Whats Happening

What's happening in the fight to cure Sanfilippo?

"Progress is moving faster than ever before. Children are being treated in clinical trials thanks to funding support. But thousands of kids are still in need, and more breakthrough research can bring a proven treatment and hopeful cure."

Glenn O'Neill, CEO, Cure Sanfilippo Foundation

LOTS HAPPENING. Exciting progress being made.

Research & Grants

Thanks to your incredible support, the Sanfilippo community is pleased to see several potential therapies moving towards human trial. In addition to clinical stage programs, there are several other innovative approaches being developed. With your help these will move into clinical trials for children! 

Review the projects and grants funded by Cure Sanfilippo Foundation.

Fundraising Events

People around the world are hosting fundraising events and peer-to-peer fundraisers to benefit Cure Sanfilippo Foundation’s quest to cure Sanfilippo Syndrome. See what’s coming up that interest you.

See the Events Calendar.

Latest Foundation News

The following are some of the latest happenings at the Foundation. To learn more about how we are working to make and fund progress in the effort to cure Sanfilippo, visit our What We Do page.

Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

Cara O'Neill and Elise Drake, poster presentation at WORLD Symposium 2020At the WORLD Symposium 2020, Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, and Research Projects Coordinator Elise Drake, PhD, gave a poster presentation entitled “Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome,” on a subset of the findings from the Foundation’s larger Caregiver Preference Study.

The poster presentation reported survey results on caregiver priorities for meaningful treatment benefits for Sanfilippo Syndrome. It drew heavy interest from the patient advocates, scientists, NIH and FDA staff, and industry partners in attendance.

Parent Prioritization 2.7-Handout-PDF image
DOWNLOAD THE POSTER
(as a printable .PDF file)

METHODS

The study used the following methods:
  • A Best-Worst Scaling (BWS) case 1 experiment was conducted via an online survey of caregivers of children with Sanfilippo syndrome.
  • BWS methodology elicits preference weights for different attributes—in this study, features that represent the impact of Sanfilippo syndrome. Features were selected based on previous qualitative research which identified highly-valued treatment targets of Sanfilippo caregivers.
  • Participants completed 12 choice sets to select features that they considered most- and least-important to address in the context of a non-curative therapy. Figure 1 depicts an example of a BWS choice set item.
  • Subgroup analysis was conducted based on child’s age and caregiver ratings of their child’s disease-specific symptoms. Log-odds importance weights were estimated using random-parameters logit for age group (6 or younger vs 7 or older) and stage (early/mid vs later) based on symptom progression. Due to small sample sizes for Sanfilippo syndrome subtypes C and D, only simple scores (i.e., best-worst scores) were calculated for sub-type analysis. Cluster analysis allowed for estimates of a child’s disease stage based on a combination of caregiver-reported cognitive ability, self-feeding ability, and autistic behaviors. 

RESULTS

The poster reported the following results based on insights from 164 caregivers of children and adults with Sanfilippo syndrome from 14 different countries who completed the Best-Worst Scaling item sets.

BWS Results by Child’s Age:
  • Across both age groups, features with highest importance weights were having pain and unsafe behaviors.
  • Hyperactivity and communicating “no” were significantly more important for caregivers of younger children. Trouble getting around, sleep, and unsafe behaviors were significantly more important for caregivers of children aged 7 and older.
BWS Results by Disease Stage:
  • Pain and unsafe behaviors remained the most prioritized features across stage of disease.
  • Caregivers of early/mid-stage children were significantly more likely to prioritize aggressive/impulsive behaviors, paying attention, feeling frustrated, and following directions than caregivers of later stage children.
  • Caregivers of later-stage children prioritized trouble getting around, worry/anxiety, sleep, and sharing feelings, significantly more than caregivers of early/mid-stage children.
BWS Results by Disease Sub-Type:
  • Simple scores reveal caregivers of children with Type A and B similarly prioritized having pain, unsafe behaviors, and feeling unwell.
  • For Type C, caregivers prioritized aggressive/impulsive toward others, not enough sleep, and having pain.

CONCLUSION

Caregivers’ relative treatment priorities reinforce the multi-symptom impacts of Sanfilippo syndrome.

The top set of prioritized features span several domains:
  • Health: pain, sleep, and feeling unwell
  • Behavioral: hyperactivity, unsafe and aggressive/impulsive behaviors
  • Motor: trouble getting around
  • Communication: communicating “no” and sharing feelings back-and-forth
Pain and safety, two areas important to child and family quality of life, were most prioritized. Though there were differences by age and severity that reflect the child’s changing needs and function as the condition progresses, overall caregivers’ priorities for disease stage features were fairly consistent.

Additional research targeting the rarer subtypes C and D may elucidate whether there are distinct treatment priorities of those caregivers.

This study provides insight into caregivers’ treatment priorities that will help inform development of therapeutics. Results here indicate that targeted, non-curative therapies that extend beyond global cognitive ability are highly valued by caregiver participants.
DOWNLOAD THE POSTER
(as a printable .PDF file)



Cara O'Neill with Tiina K. Urv, PhD, Program Director for the NIH's Office of Rare Diseases Research

Cara O’Neill of Cure Sanfilippo Foundation with Tiina K. Urv, PhD, Program Director for the NIH’s Office of Rare Diseases Research.

 Cara O'Neill poster presentation at WORLD Symposium 2020



OUR THANKS

The Foundation is grateful to the parents of children with Sanfilippo syndrome for participating in this study. Additional thanks to the Foundation’s Advisory Committee for its valuable input and to BioMarin, Lysogene, Sobi, and Orchard Therapeutics for their kind funding support.

Contact Us

If you have questions about the Parent Prioritization of Meaningful Treatment Targets presentation, contact Dr. O’Neill at Cara@CureSanfilippoFoundation.org.

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Wells Warriors Wrestling Team, honoring Spencer, headed to state finals

Wells Warriors Wrestling Team, honoring Spencer, headed to state finals

More than 20 years agoCoach Lewia coached Spencer’s Dad, Nate, in wrestling. Today, Coach Lewia coaches the Wells High School Warriors Wrestling Team. And he was ready to do whatever he could.

Coach Lewia told his team of wrestlers about Nate, and that his son, Spencer, had been diagnosed with a rare and fatal genetic disease called Sanfilippo Syndrome, otherwise known as the Childhood Alzheimer’s. There is no treatment or cure YET.



Coach Lewia explained to his team that Spencer’s only chance at life was to raise money to fund the desperately-needed research and clinical trials to find a treatment or cure. And every wrestler was on board to raise as much money as he could. 

The team saw the urgency and how much it meant to their coach, to help Nate’s family and Spencer. Without any hesitation, the high school students joined the race to save Spencer’s life.

AND THE WARRIORS AREN’T SLOWING DOWN

For a third year, the Wells Warriors wrestling team is dedicating its season to helping raise funds for research to cure Sanfilippo Syndrome. To give kids like Spencer back their future. 

Wells Warriors win Class B regional Championship 2020

This past weekend, the Wells Warriors competed in the Regional Finals and won the Class B Regional Championship for the fourth time. Keeping Spencer front of mind as they have all season, the Wells Warriors head to the State Finals.

Support the inspirational commitment of Coach Lewia and the Wells Wrestling team to help Spencer. Make a donation to their fundraising campaign.

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A little sweetness for your Valentine’s Day

A little sweetness for your Valentine’s Day

Happy Valentine’s Day!

Here are some favorite family recipes from several of our partner families as a symbol of our gratitude for you. Enjoy one (or more) of these and think of the warm wishes we’re sending your way.

Byers’ Family Cutout Cookies

3 cups flour
1/2 tsp baking powder
1/8 tsp salt
1 cup butter
1/2 cup sugar
1 egg
2 tsp vanilla

Icing:
1 cup powdered sugar, sifted
1/4 tsp vanilla
Milk (about 1-1/2 tbsp)

Sift together flour, baking powder in salt in a medium bowl. In a large bowl, cream together butter, sugar, egg, and vanilla. Add dry ingredients gradually to wet ingredients. Mix until everything sticks together and bowl comes away clean.

Roll out dough onto a floured surface to 1/8-inch thick and cut out. Place cutouts on ungreased baking sheet.

Bake at 350°F for 8 to 10 minutes. Check often to avoid burning.

To make icing, stir together powdered sugar, vanilla, and enough milk to make a drizzling consistency. Decorate cookies with frosting once they cool.

Super Simon’s Favorite Peanut Butter (Breakfast & Snack) Bars

Super Simon’s Favorite Peanut Butter (Breakfast & Snack) BarsIngredients:
1 1⁄2 cups quick-cooking oats
1⁄2 cup raw almonds (or walnuts)
1⁄4 cup sesame seeds
3 tablespoons chia seeds
1⁄4 cup hemp seeds
1 teaspoon ground cinnamon
1⁄2 teaspoon salt*
1 cup unsweetened, unsalted, creamy peanut butter
1⁄2 cup maple syrup, Grade A
1 teaspoon vanilla extract

  1. Line a 9-by-9-inch square pan with parchment paper with enough over-hang to cover bars completely.
  2. Grind oats in food processor or power blender for a few seconds until oats resemble course powder.
  3. In a large mixing bowl, add ground oats.
  4. Grind almonds (or walnuts) in food processor or power blender for a few seconds until nuts resemble course powder. Add ground nuts to large mixing bowl.
  5. Combine seeds, cinnamon, and salt with oats and nuts.
  6. In a separate smaller bowl, whisk together peanut butter, maple syrup, and vanilla extract until very smooth.
  7. Pour liquid mixture over dry ingredients and, using a wooden spoon, stir until evenly combined.
  8. Transfer the mixture to the prepared pan.
  9. Using the back of a wooden spoon or offset spatula, firmly press the mixture evenly into the pan.
  10. Cover by folding in the two shortest ends of the paper over the mixture, and then the two longest ends.
  11. Refrigerate for at least one hour or overnight.
  12. Gently open the paper and slice into 16 square bars by making three evenly spaced slices in one direction, and then three evenly spaced slices in the opposite direction.
  13. Enjoy immediately with your favorite beverage, or recover with paper and replace in the refrigerator for later. Bars may be placed in a glass storage container in the freezer for longer term storage.

        Cooking Note: *If using salted peanut butter, use only 1⁄4 teaspoon salt.

        Special Note: Super Simon loves his bar sliced into 16 tiny squares and then each gently rolled into balls, so he may easily pop them in his mouth one by one.

        Recipe adapted from: Super-Seedy Granola Bars developed by Alexandra Caspero, MA, RD

        Sarkar’s Apple Dip

        8 oz cream cheese
        1 bag Skor pieces
        1 container carmel fruit dip
        3 tbsp brown sugar
        5 Granny Smith apples

        Mix cream cheese and brown sugar together until smooth. Take mixture and put on serving tray, leaving a few inches around the edge. Melt caramel dip and spread over cream cheese mixture. Add Skor pieces as layer on top of caramel. Surround dip with applies and serve.

        Want to share yours?

        If you would like to submit a favorite recipe from your family for future sharing, please e-mail Katie@CureSanfilippoFoundation.org. 

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        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “There is no such thing as ‘false hope’. Hope Is LOVE ON A MISSION!”


        Cara O'Neill with 2020 Patient Advocate AwardCure Sanfilippo Foundation’s Chief Scientific Officer Cara O’Neill, MD, FAAP, made powerful remarks before the audience of patient advocates, scientists, and industry partners as she accepted the international Patient Advocate Leader award at the WORLD Symposium 2020 on Feb. 11. She spoke about the power of hope and declared that there is no such thing as “false hope.”

        In introducing O’Neill, a pediatrician who has worked in private practice and academic settings and mother of a daughter with Sanfilippo Syndrome, emcee Dr. Chet Whitley noted, “Her uniquely-paired career and life experience have allowed her to bridge gaps between scientists and clinicians, and even industry and families, helping foster patient-centered research and translational paths forward for rare diseases.”

        He went on to say, “Guided by the mission to support creation of treatments and eventual cure for the disease [Sanfilippo Syndrome], she has persisted and been a force in the field … Thank you for what you do, and don’t stop!”

        Taking the stage to accept the honor, O’Neill first thanked the community who together work in making advances for rare diseases and recognized the patients and their families that are the ultimate mission. 

        “It’s really, really such an honor to be recognized among so many amazing advocates that I continue to learn from every day,” said O’Neill. “And among the neuron of this entire conference: the children, the patients, and the parents in the room with very special children. For me, it’s my daughter Eliza.”

        She shared how the WORLD Symposium played a significant role in the Foundation’s founding.

        “The WORLD Symposium, this collection of brilliant scientists and clinicians will always be a part of our beginnings at Cure Sanfilippo Foundation. 

        “After our daughter Eliza was diagnosed with MPS III A about seven years ago, this was the first meeting my husband and I went to. We came to get immersed in science and meet the leaders in the field. And it was a critical first step.”

        The came away from the meeting with an important question.

        “And to be honest, at the time in 2014, we left the meeting feeling like, ‘Why are so few people talking about Sanfilippo’?”

        O’Neill and her husband, Glenn O’Neill, President of Cure Sanfilippo, used this realization to take action.

        “I’m not sure exactly what we expected at the time, but it lit a fire under us to get moving, to serve things up, to raise up the cause for Sanfilippo to anyone that would hear it. And through our Foundation efforts, many people were willing to hear it.”

        And their efforts had wider reaching impact than they ever could have predicted.

        “We never imagined Sanfilippo and our family would be featured on the Today Show, The Doctors TV show, People magazine, media stories around the world.

        “And as if ‘rare disease life’ isn’t bizarre enough, we got to share our wild Sanfilippo story on Inside Edition,” she shared with a chuckle.

        Their efforts and willingness to speak turned into action.

        “But with a lot of help, we were starting to see more and more people now talking about Sanfilippo. In that time, millions of dollars had been raised thanks to families just like us around the country, around the world. Critical dollars to fund Sanfilippo research leading to many meaningful collaborations and advances. All striving for an effective and ultimately approved treatment for all children.”

        The wave of action turned into results, into science that is testing possible therapies for Sanfilippo Syndrome right now.

        “Today, seven years since my first WORLD meeting, it’s a bit surreal to look back and see how much work has taken place in those years. There are now seven therapies for Sanfilippo Syndrome in clinical trials right now and much more science coming along the pipeline that really amazing. It’s remarkable to think that all these trials are happening.”

        Despite the years, O’Neill never forgets the initial feelings that drove her and Glenn to the conference.

        “But being here today, also takes me back to those early days, especially when I meet families like the Barrises and Grace Kerns; I meet those families who are here for the first time. It takes me back – maybe a little too much,” she said with emotion thick in her voice.

        “It takes me back to that utter panic and desperation to do whatever needs to be done to fill in the gaps, to create the right partnerships, and find a way forward to some sort of lifeline for these children. 

        Her work with the Foundation, scientific and clinical community, and industry are an outlet for those feelings. 

        “The past seven years have given me such privilege to work with so many like-minded advocates, Sanfilippo families, researchers, and industry partners who are all trying to move the needle forward. And that helps give me purpose in this tragedy.”

        She praised her family for the support and perspective that they provide her. 

        “I’m lucky also to have a true partner in this work and this ‘rare life,’ and this recognition is as much my husband Glenn’s as it is mine. And also my amazing children, Beckham and Eliza, who show me beautiful really is, despite the heartbreak this disease can bring.”

        Then she spoke powerfully of hope, sharing words that press people to never give up hope because it is what drives action. And, most importantly, that all hope is valuable.

        “My family and this community show every day that ‘hope’ is an action. It is being willing to work toward what might seem impossible. It’s about vision and perseverance.”

        “You see, there is no such thing as ‘false hope.’ Because hope is not conditional upon an outcome. Hope is actually just love on a mission!”

        She closed by again voicing her heartfelt thanks for the others in the room.

        “Thank you all for what you do and for this honor.”

        Her remarks received a standing ovation from the audience of patient advocates, scientist, and industry professionals.


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        Yahoo! Finance features Foundation’s Chief Science Officer

        Yahoo! Finance features Foundation’s Chief Science Officer

        Headshot of Dr. Cara O'NeillCure Sanfilippo Foundation’s Chief Science Officer Cara O’Neill, MD, FAAP, is at the WORLD Symposium 2020 in Orlando, FL, this week to make an important presentation about an innovative way to approach recording and measuring disease hallmarks post-gene therapy using video-based technology. 

        The PROVide Study uses video capture technology to monitor daily living, motor skills, and events, such as details regarding seizure frequency and length, sleep, stooling, and irritability/agitation. An additional layer of innovation in this study is the use of wearable devices to record additional data.

        Her presentation was included in a recent Yahoo! Finance article.

        Additionally, O’Neill is being awarded the Patient Advocate Leader of the Year at the WORLD Symposium. An honor that recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs.

        To learn more about the PROVide Study, contact the Foundation at Contact@CureSanfilippoFoundation.org.

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        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo Foundation joined 72 other patient- and disease-advocacy organizations in voicing support for a strong national Open Access policy that would guarantee immediate, free access to and full reuse of the results of scientific research that our tax dollars support in a joint letter to the Trump Administration.


        The letter urged the Administration to issue a policy that eliminates the current 12-month
        delay on articles access, and to ensure that articles and supporting data resulting from
        taxpayer funded research be made immediately available under terms and conditions that
        allow their full reuse. 

        The U.S. government funds more than $60 billion in scientific research each year on behalf of the public. Making sure that the results of this research are readily accessible to all citizens will speed the pace of scientific discovery, spur innovation, and, most importantly, give patients and their families hope of finding cures to rare and currently untreatable diseases.

        Read the full letter here.

        The letter was coordinated by Genetic Alliance, a group that engages individuals, families, and communities to transform health.

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        Thousands raised by local Maine band for Sanfilippo research

        Thousands raised by local Maine band for Sanfilippo research

        Boyz Gone Wild has done it again, raising thousands for research to cure Sanfilippo Syndrome, in honor of a Wells, ME, child. 

        2020 Boyz Gone Wild fundraiser, Wells, ME

        This is the second year Boyz Gone Wild, the self-declared New England’s Ultimate 80s tribute band, has hosted this retro fundraiser in honor of Spencer Smith and his family. 

        The night featured the 80s band Boyz Gone Wild performing, dancing, and raffles, raising $4,000 to benefit Cure Sanfilippo Foundation. 

        The band also gifted Spencer with his own bass guitar.

        2020 Boyz Gone Wild fundraiser, Wells, ME2020 Boyz Gone Wild fundraiser, Wells, ME

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        Artists bring to life inner superhero of children with Sanfilippo Syndrome

        Artists bring to life inner superhero of children with Sanfilippo Syndrome

        The children and their families who battle Sanfilippo Syndrome have superhero levels of resilience, strength, and courage.

        The Superhero Project brings the superhero within children facing serious illness or disability to life through unique art pieces, and has recently captured the superheros that live inside several children with Sanfilippo Syndrome. 

        Founded in 2016 by Lisa Kollins, The Superhero Project transforms children into superheroes through vibrant posters created by professional artists from around the world. The families are personally interviewed by one of The Superhero Project’s volunteer sidekicks and walked through a series of questions that explore the superhero that lives inside – how they make the world a better place, what they stand for, what tools they need, what they wear, and more. The information is shared with The Project’s professional animators, comic book artists, and graphic designers, who volunteer their time to turn the ideas into reality and create a fully-realized color image of each one-of-a-kind superhero. Each family receives an 11″ X 17″ poster, plus a digital copy. All at no cost to the families. 

        “People often comment that the children, parents, and siblings facing Sanfilipo Syndrome are ‘superheros,’ so it’s incredibly moving to see that sentiment brought to life. And in a way that’s unique and specific to the personality and passions of each child,” said Glenn O’Neill, President of Cure Sanfilippo Foundation and father of Eliza. “These compassionate artists volunteer their talent and time to create superheros and super stories, which lifts the spirits of children with terminal illnesses and of the parents grasping onto HOPE.”

        Recent illustrations bringing to life the inner superhero of children with Sanfilippo Syndrome:

        DRAGON MASTER LUKE
        Illustration of "Dragon Master Luke" by The Superhero ProjectThis adventurous and outgoing superhero has the best sidekick ever – Toothless! Dragon Master Luke soars through the skies, spreading joy wherever he goes. His special intuition shows him who most needs a loving hand to hold, and his magic shovel helps him scoop up happiness to share. They crayons, markers, and paintbrushes in his tool belt help him create beautiful images that inspire people. Of course, most inspiring is Dragon Master Luke himself and his buddy, Toothless. They have lots in common, from their giant smiles to their AFOs. You can’t miss this dynamic duo – giant silent fireworks (to make sure that even kids with sensitivity to noise aren’t bothered) accompany them along their paths. Inspired by Luke (age 7) and created by Miranda Pavelle

        “It’s so incredibly beautiful, and so much Luke! Luke doesn’t have the biggest attention span, but when I showed him the poster, he just stared at it. He loves Toothless and his shovel so much, and I can only imagine what he thought when he saw himself drawn riding his favorite dragon, holding one of his favorite things.” – Luke’s parents

        WILL POWER
        Illustration of "WILL Power" by The Superhero ProjectWith a smile that never quits and a heart that’s never met a stranger, Will Power is the newest superhero on the block! He inspires people to never give up and to be thankful for the blessings we have–big blessings like love and family, and little blessings like the perfect slice of peach pie. He runs with lightening speed wherever he’s needed and doesn’t let a locked door stop him. His magic keys give him the power to enter (or to escape!) any room in the universe. Will Power is happy to meet people, help them and make them smile–the world needs more superheroes with the power to connect people like he does! Inspired by W. (age 9) and created by Sarah Chalek.

        “We are so grateful for the The Superhero Project and the artist for immortalizing our in-home hero and capturing his personality and energy so perfectly! Will was so excited to see himself as a hero!!!” Will’s parents

        FOREVER EMILY
        Illustration of "Forever Emly" by The Superhero ProjectForever Emily carries the power of the whirlwind, the beauty of nature’s branches and the spirit of the stars everywhere she goes. This heart warrior inspires all who meet her with her energy and loving soul – even if she can clear a shelf at Target in seconds, she’s a character you simply must adore. Forever Emily has a collection of water pails that she uses to summon whirlwinds that bring strength to the people around her. She stands for survival; running, climbing and jumping through the night in her sparkly sneakers, free to move and to live in love. Inspired by E. (age 8) and designed by Taryn Cozzy.

        SUPER J

        Illustration of "Super-J" by The Superhero ProjectThe newest superhero in town is sweet and lovable, but don’t be misled – he can destroy a room with his amazing energy in seconds! Super-J is here to remind the world how important friendship is. Protected by his shield and his big moon heart, he’s armed with everything people need to have fun – Uno, friendship bracelets, Goldfish crackers, and more. He flies from place to place with smoke trailing behind. (No flames – safety first!) With the confidence of Buzz Lightyear, the wackiness of Stitch, and a smile that lights up a room, Super-J is ready to grab your hand, make friends, and take you to infinity and beyond! Inspired by J (age 9) and created by his brother and sister. Designed by Eric Angel Pabon

        ELIZA THE INSPIRATIONAL
        Illustration of "Eliza The Inspirational" by The Superhero ProjectPerseverance and strength – that’s what this unique superhero so perfectly exemplifies. Eliza the Inspirational is as powerful and joyful as an Olympic swimmer, with energy to spare. Wearing her striped socks and water shoes, she relies on super-speed running to carry her across the ocean waves she commands with a flick of her wrist. Eliza dares to dream of what seems impossible: a world where every child is happy, healthy, strong and free. Perhaps she knows more than we do, since she sees the future with her magical headband, its aquamarine jewel glowing ethereally. She carries a satchel filled with water books that inspire people with their stories of strength and courage – her beautiful eyes and big smile inspire them too! Inspired by E. (age 9) and designed by Sarah Wilson.

        HENRY, THE HAPPY HAMMER
        Illustration of "Henry, The Happy Hammer" by The Superhero ProjectWhen life gives him lemons, this amazing superhero makes lemonade! Henry – The Happy Hammer zooms from place to place with his canine sidekicks Bailey and Carl hitching a ride. With his courage and strength, he protects his family from foes large and smile, and reminds them to look for the bright side of life. He has an amazing ability to be happy in almost every situation! With a smile as bright as the twinkly stars on his shirt and in the skies, Henry – The Happy Hammer will laugh his way right into your heart. Created by H. (age 5) and designed by Jen Davreux.
        SETHY MAN
        Sethy Man, illustration by The Superhero ProjectBringing joy, hope, and love to the world is Sethy Man, a new superheor with a big heart, a beautiful smile, and the best laugh you’ll ever hear. He soars above the clouds on his sidekick Bernoulli, wearing his signature purple suit and cape. Sethy Man carries his blue iPad and, with just a point of his finger, can make iPads appear in a pop of glitter for every child he encounters. These everlasting iPads (no dead batteries ever!) are loaded with everyone’s favorite Disney movies that are guaranteed to make people happy. Sethy Man’s laid-back and chill personality puts everyone at ease and, for thsoe who need some extra comfort, he simply holds their hands. He just loves making people smile. Inspired by Seth, age 8, and designed by Miranda Pavelle.
        Super Rylan
        Super Rylan, The Superhero Project illustrationAs sweet as a country love song and as tough as an all-weather ATV, Super Rylan uses the power of music to bring hope and joy to everyone he meets. From the tips of his Ariat boots to the top of his cowboy hat, he lights up the world with his unconditional love. His guitar plays tunes without strumming and his magic iPhone lets people watch YouTube music videos of their favorite songs on command. Once you meet Super Rylan (Goo to his family and friends), you’ll never listen to country music without thinking of him – and without smiling – again! Inspired by Rylan (age 9) and designed by Haley Pak.

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        Meglio Knives donating 10% of premium knives to benefit Sanfilippo

        Meglio Knives donating 10% of premium knives to benefit Sanfilippo

        Meglio Knives in San Diego, CA, is known for making the best culinary, chef, utility, paring, and tactical knives from military-grade materials. These premium knives are used by some of the best chefs in the world, as well as home cooks who want an exceptional experience with flair and innovation.

        CEO and Founder Brandon Hampton has decided to use their quality knives to make an impact in the Sanfilippo community. He is donating 10% of EVERY KNIFE that is sold in the next run of its preorder 10-inch chef knives to Cure Sanfilippo Foundation.

        “As a parent, it’s really tough seeing what they have to go through. I wouldn’t wish it on anyone. And I’m excited to be a part of trying to make these parents and kids’ lives better,” said Brandon in his Facebook video announcing this special run of knives.




        Knives are now available for pre-order and orders will likely ship by the end of April. There’s no limit to the number that will be sold benefiting the Foundation.
        All of Meglio’s materials are American made. All of its vendors are located in America. And all of the labor is done in America.

        Meglio Knives has done promotions to benefit others in need previously. However, Cure Sanfilippo Foundation is the first charitable organization the knife maker has chosen to benefit. 

        “We are very honored to have Brandon and Meglio Knives support the fight to cure Sanfilippo Syndrome,” said Glenn O’Neill, President of Cure Sanfilippo Foundation. “These exceptional knives will last for generations, as will their impact in helping accelerate research to cure Sanfilippo Syndrome. A cure is even closer because of Meglio Knives and its customers.”

        Before beginning Meglio Knives, Brandon worked with the mother of Emmy, who has Sanfilippo Syndrome. Their families have remained friends, and that friendship inspired Brandon to find a way to help.

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        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Cure Sanfilippo Foundation has an ambitious plan for the next three years:

        5 clinical trials, treating 100 children, to prove at least 1 effective treatment

        Amazing things have happened in the six years since the Foundation was created because of the generosity of tens of thousands of people and the hard work of families and friends of children with Sanfilippo around the world. 

        So much progress toward a cure has been made. But there still isn’t an approved treatment or cure at this time. Yet.

        We have an ambitious plan to bring more clinical trials to children in the next three years. AND YOU CAN HELP MAKE IT HAPPEN.

        The Three-Year Plan:

        By driving the pace of science, we will find a cure in this lifetime.

        The remarkable support, progress, and need inspired the Foundation to create an audacious plan for the next three years. Because the supporters and families have proven that achieving bold goals is possible.

        Clinical trials are where the rubber meets the road, scientifically. It’s the crucial step of determining
        whether earlier research is able to show the same therapeutic benefits in people.


        Three-Year Plan - Element - Image Three-Year Plan - Element - Image Three-Year Plan - Element - Image


        There are no shortcuts in science.

        A cure requires significant resources. The daring price tag for this initiative is $10 million.

        It’s a big goal. But it can happen with support.

        Despite these dramatic costs, Cure Sanfilippo Foundation is finding
        innovative and collaborative ways to support and conduct clinical trials, as
        well as research.

        These strategies make your donations go further. It makes $10 million help even more children, and with an effective treatment, potentially thousands.

        The Future You Give Back

        With a cure, families like these can dream of the future again.

        The Burroughs Family The O'Neill Family

        How You Can Help

        Your support, now and tomorrow, gives children the chance at life.

        Every donation is deeply appreciated. And a multi-year commitment ensure the Foundation can achieve this plan to bring about these clinical trials in three years.

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        About the Foundation

        Cure Sanfilippo Foundation leads in driving research to accelerate discovery of a cure for Sanfilippo Syndrome.
        In just six years, generous donors like you have enabled Cure Sanfilippo to generate more than $8 million through grassroots and viral fundraising to support and/or architect 20+ research projects globally, including several clinical trials.
        The Foundation’s exceptional thought-leadership enables us to chart a progressive course to find a cure.

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        Sanfilippo girl coronated as Princess Rose, fulfilling her wish

        Sanfilippo girl coronated as Princess Rose, fulfilling her wish

        Rose Mendoza, coronation 2020 Tournament of RosesRose Mendoza has always loved princesses, especially the part where you wave regally to your subjects.

        Rose also has Sanfilippo Syndrome, a terminal children’s disease likened to Alzheimer’s in children.

        Volunteer members of the Tournament of Roses volunteer and the 2020 Royal Court worked with Make-A-Wish Greater Los Angeles to fulfill Rose’s dream of being a princess, complete with a magical royal coronation. 

        The wish-made-real had several special moments for Rose and her family. 

        In late October, Rose was crowned “Princess for the Day” and enjoyed a day of delights. 

        As described by Make-A-Wish Greater Los Angeles … “On a gorgeous, sunny day in Pasadena this October, the community came out in droves for the coronation of Princess Rose. She was welcomed by the Royal Court, including Rose Queen Camille who gave her a royal makeover, complete with custom princess dresses for Rose and her sister. Then Rose was showered with Frozen-themed princess gifts (her favorite!) before she was whisked off to a tea party complete with rose-infused tea from the famed Langham Hotel and all the sweet treats she could eat. The sound of trumpets beckoned her to the front stairs of the historic Tournament House, where she was surprised to find hundreds of well-wishers who came out with signs to cheer her on. Here she was fitted with her new crown and coronated as Princess Rose of Pasadena. A Pasadena Police Officer even served as her Prince Charming and escorted her to a horse-drawn carriage, which drove her around the kingdom of Pasadena. Rose squealed in excitement the entire day and sang along to her favorite songs while waving to her royal subjects.”





        The coronation was featured in The Pasadena Star:

        Suffering from ‘childhood Alzheimer’s,’ this Covina 6-year-old became a Rose Princess for a day



        In addition to the amazing coronation, Rose rode in the La Puenta Holiday Parade in a vintage sports car and the Covina and Glendora Christmas Parades. Proudly wearing her tiara and sash, of course.

        Rose Mendoza in local 2019 holiday parade

        On Jan. 1 of the New Year, Rose and her family enjoyed front-row seats at the 2020 Rose Parade. Rose and her family delighted at seeing the marching bands, flower-covered floats, and performers up close. She especially enjoyed the float depicting the parade’s theme of “The Power of Hope.”

        Rose Mendoza at 2020 Rose Parade

        Rose Mendoza at 2020 Rose Parade

        This special honor recently sparked a conversation about wishes between Rose’s big sister and mom Muna, which she shared as a letter to Rose on Facebook:

        “Your sister asked me the other day what my ‘make-a-wish’ would be. Well, I didn’t tell her because I thought I’d be too much for 7-year-old heart to take. My wish would be for a cure for this cruel disease. A cure not only for you, but for every kiddo, every family suffering watching their child die right now! It might not have been to much for your sister because she said, ‘I’d wish for a time machine to go into the future get the cure for Sanfilippo and bring it back.’ She knows that a cure will come one day. Rose, you have a whole community around you advocating and praying that future cure comes soon. No matter what the future holds, you will always be our Princess. I know no matter how your life goes, you’ll always be rocking on. We love you more than we could ever say.”

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        Foundation-supported Anakinra clinical trial listed as “recruiting”

        Foundation-supported Anakinra clinical trial listed as “recruiting”

        As a collaborator on this study, Cure Sanfilippo Foundation is thrilled to announce the MPSIII (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on ClinicalTrials.gov.

        This is an option for any Type of Sanfilippo (A, B, C, D).

        Read the full listing at https://clinicaltrials.gov/ct2/show/NCT04018755.

        Study Description

        Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.

        Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that Anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III.

        The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement, and fatigue.

        However, there is no guarantee that participants will get any benefit from being in this study.

        Study Contact Information


        If interested, please contact the Clinical Trial site, Lundquist Institute (formerly LA Biomed). All contact details can be found at link below.

        If you have any questions for the study collaborator, Cure Sanfilippo Foundation, e-mail Contact@CureSanfilippoFoundation.org./.

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        Sanfilippo child featured on St. Louis billboards this holiday season

        Sanfilippo child featured on St. Louis billboards this holiday season

        If you are driving around the greater St. Louis area, there’s the chance that you might see the face of Carson Burroughs. 

        OutFront Media featured Carson and the fight to cure Sanfilippo Syndrome on multiple billboards this holiday season.

        According to Carson’s mom Sara, “He wasn’t sure what to think when he saw his face up on the billboard!”

        Billboard in St. Louis, MO, featuring Carson Burroughs

        Billboard in St. Louis, MO, featuring Carson Burroughs

        The week of Dec. 16, Carson was appearing on the billboards at
        270 & McDonnell, Lindbergh & Tesson, and Hwy 94 & Jungs Station. The will continue running the following week and possibly on more billboards.

        Carson has Sanfilippo Syndrome Type A and he and his family live in O’Fallon, MO, a suburb of St. Louis. You can read his family’s words about how Sanfilippo has impacted their lives.

        Thank you to OutFront Media for bringing awareness to Sanfilippo Syndrome and efforts to find a cure.

        UPDATE:
        In late December, OutFront Media added three more billboards featuring Carson in the greater St. Louis area. This brings the total number of billboards featuring Carson to six during the holiday season.

        Again, many, many thanks to OutFront Media for their generosity and willingness to spotlight a rare disease.

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        Happy Holidays from our families to yours

        Happy Holidays from our families to yours

        2019 Holiday Greeting header

        Sharing food is a universal symbol of love, gratitude, and caring. All of which we have in abundance for you, our supporters.

        Here are some treasured recipes from several of Sanfilippo families as a symbol of our profound gratitude for your support. Perhaps one or two of these favorite family recipes will be a part of your holiday celebrations.

        We hope they bring you joy (and lots of compliments!).

        The Butler Family’s Fruit Cake

        The Butler FamilyFrom Tom, Leighann, Ella, and Paisleigh (MPS IIIA)

        1 lb butter, melted
        12 eggs
        4 cups self-rising flour
        2-1/2 cups sugar
        1 lb white raisins
        1 lb red cherries
        1/2 lb green cherries
        1 lb candied pineapple
        1 lb nuts
        1 tsp lemon juice

        Place nuts and fruit together in a bowl, and sprinkle with lemon juice. Mix all together. In another bowl, mix flour, eggs, and sugar. Add melted butter. Mix well. Pour over fruit and nuts. Mix.

        Bake at 250°F for two hours.

        The Byers Family’s Cranberry-Glazed Meatballs

        The Byers FamilyFrom Tim, Valerie, Will (MPS IIIB), and Samantha

        1-1/2 lb lean ground beef
        1/2 cup onion, finely chopped
        1/2 cup plain bread crumbs
        1/2 tsp salt
        1/8 tsp pepper
        2 eggs, slightly beaten
        12 oz bottle chili sauce
        8 oz jellied cranberry sauce

        Preheat oven to 375°F. In large bowl, combine beef, onion, bread crumbs, salt, pepper, and beaten eggs. Mix well. Shape into 60 1-inch meatballs. Place on ungreased baking pan.

        Bake at 375°F for 25 to 30 minutes until meatballs are no longer pink.

        Combine chili and cranberry sauces in large sauce pan, blending well. Bring to a boil over medium heat. Reduce heat to low; simmer for 5 minutes, stirring occasionally.  Add meatballs to sauce, stir to coat. Cook until thoroughly heated, stirring occasionally.

        The Esposito Family’s Roasted Garlic Guacamole Dip

        The Esposito FamilyFrom Dave, Elise, Keira (MPS IIIA) and Keaton

        1/2 of a medium yellow or red onion, cut into coarse slices
        1/2 cup of fresh cilantro leaves, stems removed
        1/2 of a jalapeño pepper
        10-12 cloves freshly-roasted garlic
        3 tbsp lime juice
        5 to 6 medium-ripe avocados
        1/2 cup diced tomatoes*
        1 tsp kosher salt
        1/2 tsp garlic salt
        1/2 tsp of Creole seasoning
        1/3 cup of Cotija cheese, crumbled**
        1/8 tsp of a chili powder or cayenne pepper, optional

        Remove the seeds and white, inner ribs from the 1/2 of a jalapeno pepper. Place the jalapeno. Combine with onion, cilantro, garlic, and lime juice in a food processor until chunkily puréed. Set aside.

        Slice the avocados in half and remove the pit. Scope the meat out from the inner walls of the outer skin and place in a bowl.

        Use a potato masher to mash until desired consistency/texture. With a mixing spoon, fold the tomatoes, salt, garlic salt, Creole seasoning, and cheese into the puree.

        Stir the avocadoes into the puree very well, but gently, to combine and make sure the seasonings are evenly distributed. If you want it spicier, add the chili powder or cayenne pepper. Serve with tortilla chips. Recipe adapted from Jeffrey Eisner.

        *If using canned tomatoes, make sure to drain thoroughly.
        **Substitute with grated Parmesan if you absolutely can’t find Cotija.

         

        JACKSON’s Family’S Maine Blueberry Pie

        The Clark FamilyFrom Hannah, Allan, and Jackson (MPS IIIA)

        2 cups flour
        1-1/2 tsp sugar
        1 tsp salt
        3/4 cup shortening (Crisco is best)
        1 egg
        1/4 cup cold water
        1-1/2 tsp vinegar
        3 cups frozen Maine Wild Blueberries
        1/2 cup sugar
        1/8 cup tapioca

        Preheat over to 425°F. Mix together flour, sugar, and salt. With pastry blender, add the shortening. In a separate bowl, beat together egg, cold water, and vinegar. Combine dry and wet ingredients. *This makes enough for one pie (a bottom and top crust).

        For the filling, mix together blueberries, sugar, and tapioca in a large bowl. Place filling on top of bottom crust. Place top crust on and sake edges. Make several slits on top crust to vent steam.

        Bake at 425°F for 15 minutes, then turn down to 375°F for 45 minutes.

        The Sarkar Family’s Spinach-Artichoke Dip

        The Sarkar FamilyFrom Samir, Jen, Sophia, and Carter (MPS IIIA)

        8 oz cream cheese
        16 oz sour cream or plain Greek yogurt
        1 stick of unsalted butter
        1-1/2 cup shredded Parmesan cheese
        14 oz. of quartered artichoke hearts, drained and coarsely chopped
        4 oz diced jalapenos, drained
        10 oz frozen spinach, thawed and drained
        2 to 3 cloves garlic

        In a large pit, melt butter then add cream cheese, sour cream, and Parmesan cheese, stirring often until fully melted and smooth. Add artichoke hearts, jalapenos, and spinach. Then add garlic. Stir all together. Put in a crockpot on low heat and serve with chips or veggies.

        The Shamaly Family’s Sour-Cream Coffee Cake

        The Shamaly FamilyFrom Kerry, Josephine, Alexander, and Ellie (MPS IIIB)

        1 cup finely-chopped California walnuts
        1/2 cup sugar
        1 tsp cinnamon
        1/2 cup butter or margarine
        1 cup sugar
        2 cups all-purpose flour
        1 cup sour cream
        2 eggs
        1 tsp double-acting baking powder
        1 tsp baking soda
        1 tsp vanilla extract

        About two hours or a day ahead: In a small bowl, combine nuts, 1/2 cup sugar, and cinnamon; set aside.

        Preheat oven to 350°F. Grease 9-inch tube pan.

        In a large bowl, with a mixer at medium speed, beat 1 cup sugar with butter or margarine until light and fluffy. Add remaining ingredients and beat at low speed until blended, constantly scraping bowl with rubber spatula. At medium speed, beat 3 minutes, occasionally scraping.

        Spread half of batter in pan; sprinkle with half of nut mixture. Spread evenly with remaining batter and spring with remaining nut mixture.

        Bake at 350°F for 60 to 65 minutes until cake pulls away from side of pan.  Cool in pan on wire rack for 10 minutes. Loosen inside edge; invert from pan onto wire rack.

        To serve later, cover completely and wrap. Makes 8 to 10 servings.

        Wishing you happy holidays.
        And a wonderful New Year!

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        Holidays are different, but still precious as a Sanfilippo parent

        Holidays are different, but still precious as a Sanfilippo parent

        The following was written by Brittany Lagarde, parent of Sawyer (MPS IIIA). Originally posted on Facebook. We appreciate her permission to share her unique perspective on the holidays as a parent of a child with Sanfilippo Syndrome.

        this time of year…
        lots of expectations, ya know?
        lots of unmet expectations, ya know?

        What do you get a sweet girl for Christmas that has no idea Christmas even exists?
        She can’t comprehend it.
        She can’t tell me what she wants.
        She can’t bake cookies with me.
        She can’t sing Christmas songs (even though, she tries to make sounds when she hears music).
        She doesn’t understand the man in the big red suit. She can’t really open presents without help, nor does she care.
        She could careless if the house is decorated.
        She can’t play out in the snow and make snowmen as her body temperature doesn’t regulate.
        My sweet almost six-year-old has no comprehension of this magical time of year.

        But it’s ok.

        It’s ok because she’s happy watching her iPad. She’s happy when she gets snuggles.
        She’s happy when you sing to her.
        She’s happy jumping on her trampoline.
        She’s happy when she gets to eat her favorite foods.
        She’s happy when she’s with those she loves.
        This time of year is full of so many romanticized traditions, but that’s not our reality.

        All that matters is we still have our little girl and she’s not in pain.
        Time is all we have, friends.
        Treasure each day, each moment with those you love.
        That’s the real meaning of the season.

        Sawyer Lagrade, living with Sanfilippo Syndrome

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        Fun twist on ugly holiday sweater helps cure kids with Sanfilippo Syndrome

        Fun twist on ugly holiday sweater helps cure kids with Sanfilippo Syndrome

        Does an ugly holiday sweater help you get into the seasonal spirit?

        How about one with unicorns!

        Better yet, this sweatshirt also helps find a cure for Sanfilippo Syndrome.

        So what are you waiting for? Grab what’s sure to be you and your kids’ favorite holiday shirts this year, and enjoy knowing that you’re also helping cure kids with Sanfilippo Syndrome.



        The shirt’s artwork features prancing unicorns, evergreen trees, snowflakes, and the reminder that “All I Want For Christmas Is A Cure.”

        Shirts are available in adult and children’s sizes. Order soon to ensure delivery in time for the holidays.

        Proceed of the 2019 ugly holiday sweater benefit Cure Sanfilippo Foundation.

        PLACE YOUR ORDER


        *Special thanks to the Sarkar family for the idea, design, and modeling by big sister Sophia!

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        Sanfilippo families & supporters lead Foundation to record-breaking 2019 Giving Tuesday

        Sanfilippo families & supporters lead Foundation to record-breaking 2019 Giving Tuesday

        The goal for 2019 Giving Tuesday, Dec. 3, was a big one: $100,000. Ambitious and hopeful, the Foundation collaborated with its partners families on a plan to far surpass the 2018 record of $43,000. At end of Giving Tuesday, more than $130,000 had been raised. 

        Families of children with Sanfilippo Syndrome and their supporters hosted more than 50 individual fundraisers via Facebook in the week leading up to Giving Tuesday.

        2019 Giving Tuesday main image

        Donation gives children with Sanfilippo Syndrome the gift of more good days. And parents more quality time with their terminally-ill child. Plus … it may just save their lives.

        A donation helps keep Carson playing baseball.
        Keeps Liv laughing and smiling.
        Keeps Spencer splashing in the pool.
        Keeps Sadie singing her favorite songs.
        Keeps Connor playing basketball and soccer.
        Keeps Oliver giving hugs to everyone he meets.
        Keeps Eliza playing in the backyard.
        Keeps Will eating the pie he loves.

        2019 Giving Tuesday e-mail array 1 2019 Giving Tuesday e-mail array 1

        Donation helps fund promising research projects that could extend children’s quality of life, giving them and their families more good days together.

        The Foundation provided content such as graphics, sample posts, videos, and funny takes on trending memes to support the individual fundraisers. 

        Once again our Sanfilippo community came out strong. With all 53 Cure Sanfilippo Foundation fundraisers going on for Giving Tuesday, you have helped raise over $120,000!!, said Lisa Bittner, mom of Luke (MPS IIIA), posted on her 2019 Giving Tuesday Facebook fundraiser. “That is an incredible amount, and will make an impact on moving research forward, faster.”

        We are always humbled by the love and support that our family receives not only today but everyday,” said Josephine Shamaly, mom of Ellie (MPS IIIB), on her 2019 Giving Tuesday Facebook fundraiser.

        Several supporters waited until 8:00 a.m. ET on Giving Tuesday to compete for Facebook’s $7 million in matching funds. The competition for those matching funds is fierce and it will be weeks until the Foundation knows whether any of those 8:00 a.m. donations were able to snag a match.

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        Drug Re-Purposing & Re-Positioning Studies Funded by Cure Sanfilippo Presented At International Conference

        Drug Re-Purposing & Re-Positioning Studies Funded by Cure Sanfilippo Presented At International Conference

        Last month, the research institute TIGEM presented preliminary results of two studies funded by Cure Sanfilippo Foundation at the Conference of Telethon Fundamental Associations in Italy.

        Cure Sanfilippo partnered with TIGEM (Telethon Institute of Genetics and Medicine) on research projects to explore re-positioning and re-purposing FDA-approved compounds to determine if identify they can activate the clearance of pathologic lysosomal accumulation in MSD cellular models independently of the missing enzyme in each particular disease.

        Posters were presented by TIGEM at the conference for both projects. 

        Top of poster presentation at Telethon scientific meeting Oct 2019 about re-positioning FDA-approved compounds for MPS III


        Bottom of poster presentation at Telethon scientific meeting Oct 2019 about re-positioning FDA-approved compounds for MPS III

        The team developed a new high-content screening assay to determine lysosomal activity. They have identified similar primary “hit compound” in MSD and MPS IIIA. The same compound in the screening reduces cellular heparan sulfate GAGs in cell models for MSD and MPS IIIA.

        Poster presentation at Telethon scientific meeting Oct 2019 about disease mechanisms and pharmacological targeting of MPS III

        Read more about each specific research project:

        Further work to determine efficacy and proper concentration doses and delivery is ongoing in animal models and efficacy.

        Fellow Sanfilippo Advocate Katia Moletta (mother to Francesco, MPS IIIA) was able to be attend the scientific meeting and connect with the presenters from TIGEM.

        Katia Moletta at Telethon scientific meeting Oct 2019   Katia Moletta and Sandro Montefusco of TIGEMat Telethon scientific meeting Oct 2019

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        Foundation Update – October 2019

        Foundation Update – October 2019

        “This shouldn’t happen! Especially not to children.”

        That’s what you thought when you first heard about Sanfilippo Syndrome. You put yourself in the shoes of these parents who were told that their children will suffer and die from Sanfilippo, and it broke your heart.
        But you made the remarkable decision to something to help.
        You donated to Cure Sanfilippo Foundation to find a treatment or cure. And your donation is an investment to create a different future.
        You can see how your donation is helping cure Sanfilippo Syndrome.
        More research is happening than ever before. More clinical trials than ever in the history of Sanfilippo. Including more than 20 projects and multiple clinical trials funded by Cure Sanfilippo in five years. And much more to come.
        Check out the IMPACT REPORT.

        Get a deeper look at what your generosity has already fueled. See the faces you are helping and the future you are creating. 






        USE BUTTONS ABOVE TO Download | View Full Screen
        ** on mobile?  Download is best option **

        None of this happens without you.

        Thank you for your generous support. A cure is closer than ever because of you.

        Deepest thanks,
        Glenn O’Neill
        Dad, Donor, President Cure Sanfilippo Foundation

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        A great turnout for 2019 Moonball kickball fundraiser

        A great turnout for 2019 Moonball kickball fundraiser

        2019 Moonball fundraiser in Dobbs Ferry, NY

        The community of Dobbs Ferry, NY, turned out on a Saturday morning in November for the 2019 Moonball Kickball Tournament, benefiting Jacob Moon, a local child with Sanfilippo Syndrome.

        The second annual Moonball again attracted support from the community for a day of family-friendly kickball, food, and other games. In addition to players, the event was supported by sponsors and volunteers who helped set up, picked up food, manned tables, organized teams, donated items, cleaned up. Students from the middle and high schools helped with the event, and the Mercy College Men’s Lacrosse team refereed the games.

        2019 Moonball fundraiser in Dobbs Ferry, NY

        One of the most touching moments of the day was high-school students and teachers organizing a special inclusive “Buddy Ball Game” so Jacob and 10 fellow special-needs friends could join in the fun. Each child was accompanied by two students who helped him/her kick the ball and guided him/her in running the bases. Because of Sanfilippo, this wouldn’t be possible for Jacob without the thoughtful inclusion and accommodation of these students. 

        2019 Moonball fundraiser in Dobbs Ferry, NY

        “This was definitely one of many highlights of the day,” said Bill Moon, Jacob’s dad. “I loved this for the kids who participated and the volunteers!”

        The local news station, News 12 – West Chester, featured the the 2019 Moonball Kickball Tournament. 



        Last year, Moonball raised $12,000, and they were hoping to surpass that this year. They were successful and raised $18,000 this year! A portion is donated to Cure Sanfilippo Foundation to help fund continued research for a treatment or cure for Sanfilippo Syndrome.

        Read an article about the 2019 Moonball by local newspaper The Hudson Independent.

        Learn more about Jacob and hear his family’s story about living with Sanfilippo Syndrome.

        2019 Moonball fundraiser in Dobbs Ferry, NY



          

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        Science & Research News

        Updates from entities conducting scientific research into Sanfilippo Syndrome. These updates are not limited to projects supported by the Foundation.

        Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

        Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome

        Cara O'Neill and Elise Drake, poster presentation at WORLD Symposium 2020At the WORLD Symposium 2020, Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP, and Research Projects Coordinator Elise Drake, PhD, gave a poster presentation entitled “Parent Prioritization of Meaningful Treatment Targets for Sanfilippo Syndrome,” on a subset of the findings from the Foundation’s larger Caregiver Preference Study.

        The poster presentation reported survey results on caregiver priorities for meaningful treatment benefits for Sanfilippo Syndrome. It drew heavy interest from the patient advocates, scientists, NIH and FDA staff, and industry partners in attendance.

        Parent Prioritization 2.7-Handout-PDF image
        DOWNLOAD THE POSTER
        (as a printable .PDF file)

        METHODS

        The study used the following methods:
        • A Best-Worst Scaling (BWS) case 1 experiment was conducted via an online survey of caregivers of children with Sanfilippo syndrome.
        • BWS methodology elicits preference weights for different attributes—in this study, features that represent the impact of Sanfilippo syndrome. Features were selected based on previous qualitative research which identified highly-valued treatment targets of Sanfilippo caregivers.
        • Participants completed 12 choice sets to select features that they considered most- and least-important to address in the context of a non-curative therapy. Figure 1 depicts an example of a BWS choice set item.
        • Subgroup analysis was conducted based on child’s age and caregiver ratings of their child’s disease-specific symptoms. Log-odds importance weights were estimated using random-parameters logit for age group (6 or younger vs 7 or older) and stage (early/mid vs later) based on symptom progression. Due to small sample sizes for Sanfilippo syndrome subtypes C and D, only simple scores (i.e., best-worst scores) were calculated for sub-type analysis. Cluster analysis allowed for estimates of a child’s disease stage based on a combination of caregiver-reported cognitive ability, self-feeding ability, and autistic behaviors. 

        RESULTS

        The poster reported the following results based on insights from 164 caregivers of children and adults with Sanfilippo syndrome from 14 different countries who completed the Best-Worst Scaling item sets.

        BWS Results by Child’s Age:
        • Across both age groups, features with highest importance weights were having pain and unsafe behaviors.
        • Hyperactivity and communicating “no” were significantly more important for caregivers of younger children. Trouble getting around, sleep, and unsafe behaviors were significantly more important for caregivers of children aged 7 and older.
        BWS Results by Disease Stage:
        • Pain and unsafe behaviors remained the most prioritized features across stage of disease.
        • Caregivers of early/mid-stage children were significantly more likely to prioritize aggressive/impulsive behaviors, paying attention, feeling frustrated, and following directions than caregivers of later stage children.
        • Caregivers of later-stage children prioritized trouble getting around, worry/anxiety, sleep, and sharing feelings, significantly more than caregivers of early/mid-stage children.
        BWS Results by Disease Sub-Type:
        • Simple scores reveal caregivers of children with Type A and B similarly prioritized having pain, unsafe behaviors, and feeling unwell.
        • For Type C, caregivers prioritized aggressive/impulsive toward others, not enough sleep, and having pain.

        CONCLUSION

        Caregivers’ relative treatment priorities reinforce the multi-symptom impacts of Sanfilippo syndrome.

        The top set of prioritized features span several domains:
        • Health: pain, sleep, and feeling unwell
        • Behavioral: hyperactivity, unsafe and aggressive/impulsive behaviors
        • Motor: trouble getting around
        • Communication: communicating “no” and sharing feelings back-and-forth
        Pain and safety, two areas important to child and family quality of life, were most prioritized. Though there were differences by age and severity that reflect the child’s changing needs and function as the condition progresses, overall caregivers’ priorities for disease stage features were fairly consistent.

        Additional research targeting the rarer subtypes C and D may elucidate whether there are distinct treatment priorities of those caregivers.

        This study provides insight into caregivers’ treatment priorities that will help inform development of therapeutics. Results here indicate that targeted, non-curative therapies that extend beyond global cognitive ability are highly valued by caregiver participants.
        DOWNLOAD THE POSTER
        (as a printable .PDF file)



        Cara O'Neill with Tiina K. Urv, PhD, Program Director for the NIH's Office of Rare Diseases Research

        Cara O’Neill of Cure Sanfilippo Foundation with Tiina K. Urv, PhD, Program Director for the NIH’s Office of Rare Diseases Research.

         Cara O'Neill poster presentation at WORLD Symposium 2020



        OUR THANKS

        The Foundation is grateful to the parents of children with Sanfilippo syndrome for participating in this study. Additional thanks to the Foundation’s Advisory Committee for its valuable input and to BioMarin, Lysogene, Sobi, and Orchard Therapeutics for their kind funding support.

        Contact Us

        If you have questions about the Parent Prioritization of Meaningful Treatment Targets presentation, contact Dr. O’Neill at Cara@CureSanfilippoFoundation.org.

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        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “Hope is love on a mission,” says Dr. O’Neill in acceptance speech

        “There is no such thing as ‘false hope’. Hope Is LOVE ON A MISSION!”


        Cara O'Neill with 2020 Patient Advocate AwardCure Sanfilippo Foundation’s Chief Scientific Officer Cara O’Neill, MD, FAAP, made powerful remarks before the audience of patient advocates, scientists, and industry partners as she accepted the international Patient Advocate Leader award at the WORLD Symposium 2020 on Feb. 11. She spoke about the power of hope and declared that there is no such thing as “false hope.”

        In introducing O’Neill, a pediatrician who has worked in private practice and academic settings and mother of a daughter with Sanfilippo Syndrome, emcee Dr. Chet Whitley noted, “Her uniquely-paired career and life experience have allowed her to bridge gaps between scientists and clinicians, and even industry and families, helping foster patient-centered research and translational paths forward for rare diseases.”

        He went on to say, “Guided by the mission to support creation of treatments and eventual cure for the disease [Sanfilippo Syndrome], she has persisted and been a force in the field … Thank you for what you do, and don’t stop!”

        Taking the stage to accept the honor, O’Neill first thanked the community who together work in making advances for rare diseases and recognized the patients and their families that are the ultimate mission. 

        “It’s really, really such an honor to be recognized among so many amazing advocates that I continue to learn from every day,” said O’Neill. “And among the neuron of this entire conference: the children, the patients, and the parents in the room with very special children. For me, it’s my daughter Eliza.”

        She shared how the WORLD Symposium played a significant role in the Foundation’s founding.

        “The WORLD Symposium, this collection of brilliant scientists and clinicians will always be a part of our beginnings at Cure Sanfilippo Foundation. 

        “After our daughter Eliza was diagnosed with MPS III A about seven years ago, this was the first meeting my husband and I went to. We came to get immersed in science and meet the leaders in the field. And it was a critical first step.”

        The came away from the meeting with an important question.

        “And to be honest, at the time in 2014, we left the meeting feeling like, ‘Why are so few people talking about Sanfilippo’?”

        O’Neill and her husband, Glenn O’Neill, President of Cure Sanfilippo, used this realization to take action.

        “I’m not sure exactly what we expected at the time, but it lit a fire under us to get moving, to serve things up, to raise up the cause for Sanfilippo to anyone that would hear it. And through our Foundation efforts, many people were willing to hear it.”

        And their efforts had wider reaching impact than they ever could have predicted.

        “We never imagined Sanfilippo and our family would be featured on the Today Show, The Doctors TV show, People magazine, media stories around the world.

        “And as if ‘rare disease life’ isn’t bizarre enough, we got to share our wild Sanfilippo story on Inside Edition,” she shared with a chuckle.

        Their efforts and willingness to speak turned into action.

        “But with a lot of help, we were starting to see more and more people now talking about Sanfilippo. In that time, millions of dollars had been raised thanks to families just like us around the country, around the world. Critical dollars to fund Sanfilippo research leading to many meaningful collaborations and advances. All striving for an effective and ultimately approved treatment for all children.”

        The wave of action turned into results, into science that is testing possible therapies for Sanfilippo Syndrome right now.

        “Today, seven years since my first WORLD meeting, it’s a bit surreal to look back and see how much work has taken place in those years. There are now seven therapies for Sanfilippo Syndrome in clinical trials right now and much more science coming along the pipeline that really amazing. It’s remarkable to think that all these trials are happening.”

        Despite the years, O’Neill never forgets the initial feelings that drove her and Glenn to the conference.

        “But being here today, also takes me back to those early days, especially when I meet families like the Barrises and Grace Kerns; I meet those families who are here for the first time. It takes me back – maybe a little too much,” she said with emotion thick in her voice.

        “It takes me back to that utter panic and desperation to do whatever needs to be done to fill in the gaps, to create the right partnerships, and find a way forward to some sort of lifeline for these children. 

        Her work with the Foundation, scientific and clinical community, and industry are an outlet for those feelings. 

        “The past seven years have given me such privilege to work with so many like-minded advocates, Sanfilippo families, researchers, and industry partners who are all trying to move the needle forward. And that helps give me purpose in this tragedy.”

        She praised her family for the support and perspective that they provide her. 

        “I’m lucky also to have a true partner in this work and this ‘rare life,’ and this recognition is as much my husband Glenn’s as it is mine. And also my amazing children, Beckham and Eliza, who show me beautiful really is, despite the heartbreak this disease can bring.”

        Then she spoke powerfully of hope, sharing words that press people to never give up hope because it is what drives action. And, most importantly, that all hope is valuable.

        “My family and this community show every day that ‘hope’ is an action. It is being willing to work toward what might seem impossible. It’s about vision and perseverance.”

        “You see, there is no such thing as ‘false hope.’ Because hope is not conditional upon an outcome. Hope is actually just love on a mission!”

        She closed by again voicing her heartfelt thanks for the others in the room.

        “Thank you all for what you do and for this honor.”

        Her remarks received a standing ovation from the audience of patient advocates, scientist, and industry professionals.


        Read more

        Yahoo! Finance features Foundation’s Chief Science Officer

        Yahoo! Finance features Foundation’s Chief Science Officer

        Headshot of Dr. Cara O'NeillCure Sanfilippo Foundation’s Chief Science Officer Cara O’Neill, MD, FAAP, is at the WORLD Symposium 2020 in Orlando, FL, this week to make an important presentation about an innovative way to approach recording and measuring disease hallmarks post-gene therapy using video-based technology. 

        The PROVide Study uses video capture technology to monitor daily living, motor skills, and events, such as details regarding seizure frequency and length, sleep, stooling, and irritability/agitation. An additional layer of innovation in this study is the use of wearable devices to record additional data.

        Her presentation was included in a recent Yahoo! Finance article.

        Additionally, O’Neill is being awarded the Patient Advocate Leader of the Year at the WORLD Symposium. An honor that recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs.

        To learn more about the PROVide Study, contact the Foundation at Contact@CureSanfilippoFoundation.org.

        Read more

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo advocates for open access to tax-funded research

        Cure Sanfilippo Foundation joined 72 other patient- and disease-advocacy organizations in voicing support for a strong national Open Access policy that would guarantee immediate, free access to and full reuse of the results of scientific research that our tax dollars support in a joint letter to the Trump Administration.


        The letter urged the Administration to issue a policy that eliminates the current 12-month
        delay on articles access, and to ensure that articles and supporting data resulting from
        taxpayer funded research be made immediately available under terms and conditions that
        allow their full reuse. 

        The U.S. government funds more than $60 billion in scientific research each year on behalf of the public. Making sure that the results of this research are readily accessible to all citizens will speed the pace of scientific discovery, spur innovation, and, most importantly, give patients and their families hope of finding cures to rare and currently untreatable diseases.

        Read the full letter here.

        The letter was coordinated by Genetic Alliance, a group that engages individuals, families, and communities to transform health.

        Read more

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Foundation sets ambitious plan for next three years: 5 clinical trials, 100 children

        Cure Sanfilippo Foundation has an ambitious plan for the next three years:

        5 clinical trials, treating 100 children, to prove at least 1 effective treatment

        Amazing things have happened in the six years since the Foundation was created because of the generosity of tens of thousands of people and the hard work of families and friends of children with Sanfilippo around the world. 

        So much progress toward a cure has been made. But there still isn’t an approved treatment or cure at this time. Yet.

        We have an ambitious plan to bring more clinical trials to children in the next three years. AND YOU CAN HELP MAKE IT HAPPEN.

        The Three-Year Plan:

        By driving the pace of science, we will find a cure in this lifetime.

        The remarkable support, progress, and need inspired the Foundation to create an audacious plan for the next three years. Because the supporters and families have proven that achieving bold goals is possible.

        Clinical trials are where the rubber meets the road, scientifically. It’s the crucial step of determining
        whether earlier research is able to show the same therapeutic benefits in people.


        Three-Year Plan - Element - Image Three-Year Plan - Element - Image Three-Year Plan - Element - Image


        There are no shortcuts in science.

        A cure requires significant resources. The daring price tag for this initiative is $10 million.

        It’s a big goal. But it can happen with support.

        Despite these dramatic costs, Cure Sanfilippo Foundation is finding
        innovative and collaborative ways to support and conduct clinical trials, as
        well as research.

        These strategies make your donations go further. It makes $10 million help even more children, and with an effective treatment, potentially thousands.

        The Future You Give Back

        With a cure, families like these can dream of the future again.

        The Burroughs Family The O'Neill Family

        How You Can Help

        Your support, now and tomorrow, gives children the chance at life.

        Every donation is deeply appreciated. And a multi-year commitment ensure the Foundation can achieve this plan to bring about these clinical trials in three years.

        Donate Now button


        About the Foundation

        Cure Sanfilippo Foundation leads in driving research to accelerate discovery of a cure for Sanfilippo Syndrome.
        In just six years, generous donors like you have enabled Cure Sanfilippo to generate more than $8 million through grassroots and viral fundraising to support and/or architect 20+ research projects globally, including several clinical trials.
        The Foundation’s exceptional thought-leadership enables us to chart a progressive course to find a cure.

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        Foundation-supported Anakinra clinical trial listed as “recruiting”

        Foundation-supported Anakinra clinical trial listed as “recruiting”

        As a collaborator on this study, Cure Sanfilippo Foundation is thrilled to announce the MPSIII (Sanfilippo) Anakinra clinical trial is now listed as “recruiting” on ClinicalTrials.gov.

        This is an option for any Type of Sanfilippo (A, B, C, D).

        Read the full listing at https://clinicaltrials.gov/ct2/show/NCT04018755.

        Study Description

        Inflammation has been connected with disease pathogenesis in the MPS disorders. Therapies aimed at decreasing inflammation are currently being studied in many MPS disorders and benefits in both brain and other parts of the body have been reported.

        Decreasing interleukin-1 (IL-1) in an animal model of MPS III showed benefits in brain disease and behavior. Thus, we think that Anakinra (Kineret), which decreases IL-1 levels in the body, will improve behavioral and other problems in children with MPS III.

        The expected potential direct benefits include, but are not limited to, improved behavior, sleep, stooling, communication, mood, and gait; as well as decreased seizure frequency, disordered movement, and fatigue.

        However, there is no guarantee that participants will get any benefit from being in this study.

        Study Contact Information


        If interested, please contact the Clinical Trial site, Lundquist Institute (formerly LA Biomed). All contact details can be found at link below.

        If you have any questions for the study collaborator, Cure Sanfilippo Foundation, e-mail Contact@CureSanfilippoFoundation.org./.

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        Drug Re-Purposing & Re-Positioning Studies Funded by Cure Sanfilippo Presented At International Conference

        Drug Re-Purposing & Re-Positioning Studies Funded by Cure Sanfilippo Presented At International Conference

        Last month, the research institute TIGEM presented preliminary results of two studies funded by Cure Sanfilippo Foundation at the Conference of Telethon Fundamental Associations in Italy.

        Cure Sanfilippo partnered with TIGEM (Telethon Institute of Genetics and Medicine) on research projects to explore re-positioning and re-purposing FDA-approved compounds to determine if identify they can activate the clearance of pathologic lysosomal accumulation in MSD cellular models independently of the missing enzyme in each particular disease.

        Posters were presented by TIGEM at the conference for both projects. 

        Top of poster presentation at Telethon scientific meeting Oct 2019 about re-positioning FDA-approved compounds for MPS III


        Bottom of poster presentation at Telethon scientific meeting Oct 2019 about re-positioning FDA-approved compounds for MPS III

        The team developed a new high-content screening assay to determine lysosomal activity. They have identified similar primary “hit compound” in MSD and MPS IIIA. The same compound in the screening reduces cellular heparan sulfate GAGs in cell models for MSD and MPS IIIA.

        Poster presentation at Telethon scientific meeting Oct 2019 about disease mechanisms and pharmacological targeting of MPS III

        Read more about each specific research project:

        Further work to determine efficacy and proper concentration doses and delivery is ongoing in animal models and efficacy.

        Fellow Sanfilippo Advocate Katia Moletta (mother to Francesco, MPS IIIA) was able to be attend the scientific meeting and connect with the presenters from TIGEM.

        Katia Moletta at Telethon scientific meeting Oct 2019   Katia Moletta and Sandro Montefusco of TIGEMat Telethon scientific meeting Oct 2019

        Read more

        Adam Shaywitz, MD, PhD, joins Cure Sanfilippo Foundation board

        Adam Shaywitz, MD, PhD, joins Cure Sanfilippo Foundation board

        Adam Shaywitz, Cure Sanfilippo Foundation board memberAdam Shaywitz, MD, PhD, has joined the board for Cure Sanfilippo Foundation, bringing additional scientific and treatment development expertise to the organization.

        “We are absolutely thrilled to welcome Adam to the board and are grateful for his support of the Sanfilippo community over the years,” said Cure Sanfilippo Board member Valerie Byers, PhD. “His extensive experience in the drug development process for devastating rare pediatric conditions will provide the Foundation with unique and invaluable guidance as we aim to accelerate our impact in the space for children with Sanfilippo Syndrome.”

        Adam received his degrees from Harvard Medical School and trained in adult medicine at Massachusetts General Hospital. He subsequently pursued a fellowship in endocrinology, diabetes, and metabolism jointly at the Beth Israel-Deaconess Medical Center and Joslin Diabetes Center where he concurrently pursued postdoctoral studies in molecular physiology.

        Adam is Chief Medical Officer (CMO)-in-Residence at BridgeBio Pharma, where he currently serves as CMO for three subsidiary companies: CoA Therapeutics, Aspa Therapeutics, and Adrenas Therapeutics. 

        Prior to BridgeBio, he spent five years at BioMarin Pharmaceutical as an Executive Director in the Clinical Sciences group. While at BioMarin, Adam developed, designed and led natural history and clinical studies for Sanfilippo Syndrome. Additionally, he played a key role in developing a number of programs aimed at treating a broad range of diseases, including other lysosomal storage disorders. During his tenure at BioMarin, Adam also worked closely with the research and business development teams to develop and broaden the pre-clinical and clinical pipeline.

        “I am honored and excited to continue working with the Sanfilippo community in their mission to identify therapies that could make a meaningful impact to patients and families suffering from this devastating disease,” said Adam Shaywitz. “In addition to the urgency and drive that Cure Sanfilippo Foundation brings to their mission, they also possess a sophisticated understanding of what it takes to deliver novel therapies to patients and a willingness to dive in and participate in this process. I am looking forward to being a part of this dynamic and passionate team.”

        Read more

        International Honor of 2020 “Patient Advocate Leader” Given To Dr. Cara O’Neill

        International Honor of 2020 “Patient Advocate Leader” Given To Dr. Cara O’Neill

        Chief Science Officer Cara O'NeillThe thought leadership of Dr. Cara O’Neill, Chief Science Officer at Cure Sanfilippo Foundation, a pediatrician, and mother to a daughter with the rare disease Sanfilippo Syndrome (MPS III), in the rare disease space is being recognized at an international level.

        Each year, WORLDSymposium recognizes one individual for their patient advocacy leadership in the field of lysosomal disease. Dr. O’Neill is the recipient of the 2020 Patient Advocate Leader Award, which will be presented WORLDSymposium 2020 on Feb. 12, 2020.

        The award, which began in 2016, recognizes an individual for their direct contribution to lives of patients and families dealing with a lysosomal disease through disease awareness and education, community mobilization, non-profit development and/or good governance activities, patient care, and support programs. Past recipients include remarkable leaders such as Barbara Wedehase, former Executive Director of the MPS Society (2016); Christine Lavery, Group Chief Executive for the UK Society for Mucopolysaccharide Diseases (2017); Jack Johnson, Executive Director of the Fabry Support & Information Group (2018), and Mark Dant, Chairman of the EveryLife Foundation for Rare Diseases and founder of The Ryan Foundation (2019).

        “It is a great honor to receive this award, and I am humbled to be among past recipients of such high caliber and contribution,” said Dr. O’Neill. “Cure Sanfilippo Foundation has found many great partners interested in collaborating with us on new clinical strategies, improved patient input, and pathways for faster diagnosis, which benefits all families dealing with Sanfilippo Syndrome, as well as patient communities in other diseases.”

        Dr. O’Neill’s uniquely-paired career and life experiences allow her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and future translational paths for rare disease treatments.

        She leads patient-focused research efforts within Cure Sanfilippo and has presented at international conferences and authored peer-reviewed journal articles. In addition, she collaborates with other non-profit groups on mutual advocacy and research interests, as well as oversees the Foundation’s funding of external scientific programs.

        Dr. O’Neill leads in developing innovative integration of patient perspective and technology into study design and pioneering support for pediatricians in diagnosing rare diseases early, such as:

        • Conducting the first-ever Sanfilippo Caregiver Preference Study;
        • Piloting The GAPP Project, using cutting-edge facial recognition technology in pediatric clinics to accelerate accurate diagnosis and access to specialized geneticist for a wide range of genetic conditions;
        • Collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo, a crucial clinician tool as there is only scarce, fragmented management guidance currently available; and
        • Leveraging technology, such as wearable devices and video capture of disease symptoms (gait, motor skills, speech, social interaction), to improve the quantity and quality of date used to evaluate experimental therapies.

        “Her work has broader application than just Sanfilippo Syndrome. Many of the clinical and scientific strategies that O’Neill leads could be applied to multiple diseases, even beyond rare diseases, making her contributions to the scientific community exceptional,” said Dan Fraley, Chair of Cure Sanfilippo Foundation.

        This is fantastic news and a well-deserved honor for Dr. O’Neill. It has been a true inspiration to work with her on initiatives to improve the lives of patients with Sanfilippo Syndrome and their families,” said Wayne Pan, MD PhD MBA, Medical Director/Global Medical Affairs for BioMarin. “It is wonderful to see the lysosomal storage disease community recognizing her for all of your contributions.”

        Created in 2014 by O’Neill and her husband Glenn, Cure Sanfilippo Foundation has already raised more than $8 million through grassroots and viral fundraising which has helped fund more than 20 research projects, including the first-ever gene therapy clinical trials for Sanfilippo Syndrome. A complete list of funded projects can be viewed at CureSFF.org/Grants.

        Read more

        Why and how to achieve novel outcomes in neurodegenerative gene therapy trials

        Why and how to achieve novel outcomes in neurodegenerative gene therapy trials

        Picking outcome measures for neurodegenerative gene therapy trials in rare disease is difficult. The conditions often have a lot of heterogeneity, relatively small sample sizes, and rarely disease-specific outcome measures. That is why “outside the box” thinking is necessary, and Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, shared how novel outcomes could be used to expand and improve evaluation of gene therapy trials for neurodegenerative diseases at the Lysogene/Sarepta satellite symposium during SSIEM 2019 last week in Rotterdam, Netherlands.

        Cara O'Neill at SSIEM 2019Most of the measures used in childhood neurodegenerative conditions are drawn from more general measures based on normal neurodevelopment and behavior patterns, rather than hallmarks of particular disease. So rare diseases are always being compared to “Normal.” But is that a fair comparison knowing that these patients have had chronic ongoing brain injury to the immature developing brain? 

        “We have to do a better job of matching endpoints with the patient’s needs across the spectrum of any given disease,” urged O’Neill.

        The key is meeting the patient needs, not the clinician’s needs or fulfilling assumptions that have been made in the past about patients’ need.

        “We must get as close as we can to discerning what is going to make their life better, for however long that is.”

        Cara O'Neill at SSIEM 2019Sharing early data from the Foundation’s MPS III Caregiver Preference Study, O’Neill noted that the more than 160 Sanfilippo caregivers across 14 different countries listed pain, communication, mobility and hyperactivity among their treatment priorities. Additionally, what caregivers prioritize changes along the course of the disease. 

        O’Neill detailed how the Foundation has partnered with Aparito, Casimir Trials, and Lysogene to conduct an exploratory study of
        novel outcomes for MPS IIIA running in parallel to AAV10-SGSH intracranial gene therapy trial. The study uses frequent video capture by caregivers to monitors specific disease hallmarks and priorities identified by the Caregiver Preference Study in the child’s familiar environment  to capture the child’s best ability. 

        The patient-reported outcome videos study has allowed detection of subtle, but meaningful, incremental changes and appears feasible for longer term monitoring of real-world functioning and patient status, reported O’Neill.

          Read more

          ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

          ABO-102 Gene Therapy Preserves Cognitive Development in Young Sanfilippo Children

          Young children with Sanfilippo Syndrome who were treated with ABO-102 gene therapy in the high-dose cohort demonstrated preserved neurocognitive development 12-18 months post treatment. Additionally, the children continued to track within normal age-equivalent development.

          Abeona Therapeutics, which is conducting the ongoing Phase 1/2 clinical trial evaluating ABO-102 gene therapy, announced the positive data in late July. 

          In its statement, Abeona shared that, “Robust and sustained improvement observed in biomarkers confers additional evidence of a clear biological effect following ABO-102 administration. In addition, longer-term safety remained favorable eight months to two years after treatment.”

          Abeona is enrolling eligible patients at sites in the U.S., Spain, and Australia. Read more about the trial enrollment.

          Because of donors’ generous support, Cure Sanfilippo Foundation was an initial funder of Abeona’s gene therapy Type A and Type B clinical trials. 

          Read this article by SanfilippoNews.com for additional information about the clinical trial. 

          Read more

          Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

          Insights to Help Clinicians Understand Caregiver Burden with Sanfilippo

          Caregivers for children with Sanfilippo Syndrome face a unique set of challenges because of the disease’s complex nature. There is little understanding among clinicians of the family experience of caring for patients with Sanfilippo and how a caregiver’s experiences change and evolve as patients age. The burden and impact on caregivers’ quality of life is poorly defined and best-practice guidance for clinicians is lacking.

          Chief Science Officer Cara O'NeillA group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians. Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD FAAP, was among the advisors. As a mother of a child with Sanfilippo, Cara brought first-hand caregiver perspective to the collaboration in addition to scientific and medical expertise.

          The group reviewed key aspects of caregiver burden associated with Sanfilippo B by identifying and quantifying the nature and impact of the disease on patients and caregivers. They co-authored recommendations based on findings from qualitative and quantitative research, which were recently published in the Orphanet Journal of Rare Diseases.

          The article’s authors report that:
          “Providing care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties.
          Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.”

          Additionally, the authors call for changing the narrative associated with Sanfilippo:

          “The panel agreed that the perceived aggressive behavior of the child may be better described as ‘physical impulsiveness’ and is often misunderstood by the general public. Importantly, the lack of intentionality of the child’s behavior is recognized and shared by parents and panel members.

          Parents may seek to protect their child from public scrutiny and avoid situations that many engender criticism of their parenting skills.”

          Read the complete article from the Orphanet Journal on Rare Diseases.

          Helping the research, clinical, and regulatory communities understand the perspectives of caregivers for Sanfilippo children is a priority for Cure Sanfilippo. The fastest path to a cure is when researchers, clinicians, regulators, and patient advocates collaborate and align. Another way to the Foundation is working to amplify the caregiver voice and project it into the industry space is with its Caregiver Preference Study. Learn more about this initiative.

          Read more

          Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

          Abeona launches website with eligibility survey for its now-enrolling MPSIII clinical trial

          Abeona has launched AbeonaTrials.com, a website featuring information about its Transpher A Study clinical trial in Sanfilippo syndrome type A (MPS IIIA). The Transpher A Study currently is enrolling eligible patients as young as 6 months old.

          A part of the site is an eligibility survey to see if your child may be able to participate:
          https://www.mpstransphera.com/#s3

          The following additional information was provided by Abeona regarding its website, its Transpher A Study and Transpher B Study, and how it’s working to spread awareness of them to families with Sanfilippo Syndrome.

          Click here or directly on the image for a downloadable PDF.


          July 2019 Update from Abeona regarding clinical trial tool and AbeonaTrials.com

          Read more

          Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

          Speeding Diagnosis of Rare Diseases By Empowering Pediatricians

          First-Ever Collaboration: Pilot Program Giving Pediatricians Direct Access to Geneticists so Rare Diseases Are Diagnosed Accurately and Early

          Families need faster, accurate diagnosis so they can access clinical trial opportunities as soon as possible. A key to this happening is bridging the gap in pediatricians’ access to genetics information, especially regarding rare diseases. To help bridge this gap, Cure Sanfilippo Foundation has partnered to pilot the Genetics Access in Primary Pediatrics (GAAP) project, linking Greenwood Genetic Center’s (GCC) clinical geneticists and genetic counselors to pediatricians through the Faces2Genes app.

          Face2Gene analyzes patient photographs using machine learning and computer algorithms to help make challenging diagnoses. Through the GAPP pilot project, the Face2Gene improves patient wait times and allows a pediatrician to identify patients through a list of genetic “triggers” or features that may indicate a need for further genetic evaluation.

          If the patient’s family elects to be a part of the GAPP pilot project, the pediatrician uploads facial photos and other clinical information to Face2Gene where it can be securely shared with GGC clinicians for review. The geneticist can suggest appropriate referrals or genetic testing that can be initiated by the pediatrician in advance of the genetics appointment. Urgent referrals can be prioritized, and when the patient does come in for their genetics consultation, initial test results have already been completed, saving valuable time.

          Learn more about the Faces2Gene project and Foundation’s collaboration.

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          Sobi Update regarding Sanfilippo Type A clinical trial

          Sobi Update regarding Sanfilippo Type A clinical trial

          The following letter was released by Sobi on June 24, 2019, regarding its enzyme-replacement therapy clinical trial for Type A.
          We continue to communicate and collaborate with the company about the future of the trial, in an effort to continue to help children with Sanfilippo. 

          Read more

          Creation of Global Clinical Guidelines for Sanfilippo Syndrome

          Creation of Global Clinical Guidelines for Sanfilippo Syndrome

          Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome in partnership with the Sanfilippo Children’s Foundation (Australia).

          Best-practice guidelines for clinical care are critical for both patients and health care professionals in the management of rare diseases where lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition. Such guidelines allow clinicians and other health-care professionals to make recommendations based on best-available evidence; improve consistency of diagnosis and clinical management across treatment centers; and enable affected families to make informed decisions regarding care and treatment.

          As several promising treatments move into clinical trial, the need for Global Clinical Guidelines has become increasingly important. The international  steering committee for this project includes: Dr. Simon Jones, UK (Chair); Dr. Joseph Muenzer, US; Dr. Chester Whitley, US; Dr. Nicole Muschol, Germany; Dr. Nicholas Smith, Australia; and Dr. Roberto Guigliani, Brazil.

          Experts worldwide from all of the disciplines of health professionals involved in the care of children and young adults with Sanfilippo will be invited to contribute content to the clinical management guidelines.

          These guidelines will be collated and validated by a wider pool of clinicians and the finalized Global Clinical Guidelines published in a peer-reviewed medical journal towards the end of 2019. Production of a family-friendly version of the guidelines is also planned.

          This project is supported by a grant from Global Genes and BioMarin Pharmaceutical

          Below: The team aggregated by the Foundation to lead the project.
          Global Clinical Guidelines on Sanfilippo Syndrome Steering Committee - February 2018

          Update: Read the April 2019 Foundation Update for the latest on the project.

          Read more

          Caregiver Preference Study for Sanfilippo Syndrome

          Caregiver Preference Study for Sanfilippo Syndrome

          Team working on Sanfilippo Syndrome caregiver preference studyCure Sanfilippo Foundation is working to publish the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It will include what parents consider “meaningful benefit,” as well as an exploratory staging tool.

          The aim of the Caregiver Preference Study is to help inform the selection and development of clinical trial endpoints to reflect desired treatment benefits across the lifespan of children with Sanfilippo Syndrome. 

          Our hope is that the publication of these findings further inform key stakeholders, allowing the incorporation of patient voice into the decision making regarding the drug approval process and access. 

          Team working on Sanfilippo Syndrome caregiver preference study; Cara O'NeillOur project design for the Caregiver Preference Study incorporates these various stakeholders including industry partners, regulatory, and parents of children with Sanfilippo Syndrome. 

          More than 150 caregivers recently completed the quantitative survey and are currently being analyzed. Ongoing study results will be shared via poster presentations and manuscripts, as they become available. 

          Outcomes and interim results from our focus groups (the qualitative portion) were shared in a Platform and Poster Presentation at the World Symposium in February 2019 and 2020, and can be found here:
          presentation poster from the WORLD Symposium 2019 and poster presentation from the WORLD Symposium 2020

          Cara O'Neill presenting Caregiver Preference Study results at world conferenceThis important project has received grant support from BioMarin Pharmaceutical, Lysogene, Sobi, and Orchard Therapeutics.














           

          Sanfilippo Syndrome caregiver preference study poster presentation



          Read more

          Update from Abeona Therapeutics – February 2019

          Update from Abeona Therapeutics – February 2019

          The following is a message re-published from Michelle Berg, Vice President of Patient Affairs and Community Engagement for Abeona Therapeutics, Inc. To read the message in its original letter form, click here

          – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – – 

          Hello to the International Leadership in the MPS III Community,

          I write to you on this special day that has been designated for the global recognition and deserved focus on those living with or affected by rare disease. This is a wonderful opportunity to bring more light to the everyday impact that navigating the challenges presented by rare disease has, beyond the responsibilities of daily life. Given the focus of our research efforts, rare disease is quite constantly on our minds but providing this additional insight to our team has brought further meaning. Thank you to those who have shared your perspectives with us. The following is an update that comes after continued work with the 9 collaborating foundations for additional studies investigating extended populations of children affected by MPS IIIA and MPS IIIB.

          This is a long message with the purpose of providing greater insight into the different MPS III ongoing and planned studies and other updates from Abeona. First, I’ll start with the news that João Siffert, M.D. has been appointed as CEO after serving as the interim-CEO for several months. For the time, he will continue to serve also as head of Research and Development and Chief Medical Officer until those roles can be filled.

          Next, I’ll elaborate on items we have shared previously and summarize notable updates for the ongoing and planned studies for the investigation first of MPS IIIA programs and then MPS IIIB.

          ABT-001: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA
          Our team met with both FDA and EMA regarding the progress to date on ABT-001, and it was decided that the eligibility criteria in ABT-001 Phase 1/2 study will be modified to enroll additional patients with greater function or who have experienced less neurologic decline. The listing in clinicaltrials.gov for this study is now revised with the following modifications. Those interested or with questions should contact their child’s physician to determine eligibility.
          • Inclusion criteria has been adjusted to include Age 6 months to 2 years or children older than 2 years with a minimum cognitive DQ of 60 or above calculated by Bayley Scales of Infant and Toddler Development
          • Total number of anticipated participants adjusted from 16 to 22. This means we are continuing enrollment across sites for a total of up to 8 more participants in Cohort 3.
          • Study completion date changed to Dec 2021 (from Dec 2020) to account for additional participants
          • Exclusion criteria has been modified to account for:
            • Previous treatment by HSCT or participation in gene/cell therapy or ERT clinical trial
            • Any vaccination with viral attenuated vaccines less than 30 days prior to scheduled date of treatment
            • Subjects with positive response for the ELISPOT for T-cell responses to AAV9
          • In addition to a primary outcome of safety, the change from baseline in the Age Equivalent Developmental Score (MSEL or Kaufman) compared with natural history study data will be measured
          • Additional secondary outcomes have been incorporated which include:
            • Change from baseline in the Cognitive Age Equivalent compared to natural history study, calculated using Bayley Scales of Infant and Toddler Development
            • PedsQL total score
            • Parent quality of life, using a tool called the Parenting Stress Index
            • Analysis in plasma, saliva, urine, feces of vector shedding
          • For outcomes already listed on ct.gov – change to 24 month timeframe (currently lists 12 months)

          ABT-003: Additional Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA and have further disease progression
          As a result of the changes outlined above, we have adjusted the additional planned trial, ABT003, to complement ABT-001 and to investigate the effects of ABO-102 in eligible patients with more progressed or increased neurological impact of the disease.
          • Enrollment criteria to complement upper limits for ABT-001 for no eligibility gap between these two studies
          • Inclusion/exclusion criteria and number of participants are not yet available for release
          • Protocol submission to regulatory agencies is imminent for Spain, Australia, and the United States
          • In parallel, preparations with sites in Spain, Australia, and the United States are well underway and will be limited to these countries
          • Currently, it’s not certain which country will be ready first but we will not wait for all three to initiate enrollment
          • More information will be provided as available
          ABT-002: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIB
          This study is still early with participants with safety as the highest priority followed by getting data to inform on dose. There have been recent updates to the clinicaltrials.gov listing for this study, summarized below:
          • Updated Responsible Party and main contact as Abeona
          • Added exclusion criterion of treatment with prior ERT
          • Modified age criteria for enrollment to 6 months and above
          • Removed secondary endpoint of change in brain volume by MRI
          • Added Spain as an active clinical site
          • Efforts continue to initiate sites in UK, Germany, and France
          Thank you again, as I realize this is a large amount of information. Lastly, I’ll be using this format for sending group emails in order to provide people with the option to unsubscribe should they choose to no longer receive updates from Abeona.

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          Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

          Collaborating on facial-recognition app to diagnose Sanfilippo Syndrome

          Cure Sanfilippo Foundation is collaborating with Face2Gene, a suite of digital resources for physicians from FDNA, to populate its Clinic app that uses facial recognition technology to assist in accurately and timely diagnoses of Sanfilippo Syndrome.

          One way to determine if different genetic syndromes have distinctly recognizable facial features is by using sophisticated facial recognition software. This distinction could, in time, lead to an earlier diagnosis by medical professionals.

          Cure Sanfilippo asked the network of Sanfilippo families that elect to operate under its umbrella to provide facial photos of their children to help create a definition of the facial features for Sanfilippo Syndrome (MPS III) and study the facial features over different ages, genders and ethnicities.

          Once sufficient numbers of photos have been submitted, FDNA will run an analysis on the different groups of photos to determine whether there are distinct gestalts and how these gestalts change over time.

          Update: In 2018, the information uploaded to Face2Gene was used to create a Natural History of Facial Features Observed in Sanfilippo Syndrome, Type B. The following poster presentations were displayed at the 2018 World Symposium. To download a PDF of the posters, click the image. 

          Sanfilippo Syndrome, Type B, (MPSIIIB) facial features observed using next-gen phenotyping tool

           

          Distinct facial phenotype for Sanfilippo Syndrome (MPSIII)

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          A great resource for the latest in science and research regarding Sanfilippo, visit www.SanfilippoNews.com. The site provides the latest information and presents it in a format that families can easily understand.

          Information about global research

          For information about research beyond those funded by the Cure Sanfilippo Foundation, visit these links:

          How we push for progress

          To learn more about how we are working to make and fund progress in the effort to cure Sanfilippo, visit our What We Do page.

          CURE SANFILIPPO POSTER PRESENTATIONS

          Poster 1 :  Creation of facial gestalt for patient identification in Face2Gene facial recognition app.  Click image below or view the poster here: MPSIII Facial Phenotype Poster Final-WORLD 2018





          Poster 2 :  Our research in collaboration with FDNA has highlighted the facial natural history of patients with Sanfilippo Syndrome Type B, MPSIIIB. The facial recognition tool was able to identify children with MPSIIIB accurately as young as 1-3 yrs of age.  This suggests that the Face2Gene app may be beneficial in identifying patients at risk for MPSIIIB based on their facial features  Click image below or view the poster here:  MPSIIIB Facial Natural History Poster Final- ACMG April 2018




          Poster 3 :  Caregiver Perceptions about the accuracy of Cognitive testing in children with Sanfilippo syndrome (MPS III). Click image below or view the poster here:  MPSIII Caregiver Perceptions about Cognitive Testing Poster Final – WORLD Symposium 2018




          Poster 4 : To help researchers, the U.S. Food and Drug Administration (FDA), drug companies, and doctors investigating Sanfilippo Syndrome better evaluate meaningful change and benefit from treatments, the Foundation launched the first-ever Caregiver Preference Study for Sanfilippo Syndrome.

          Tapping the Sanfilippo community, Cure Sanfilippo Foundation asked parents and caregivers to share the most meaningful symptoms to address in developing therapies for children with Sanfilippo Syndrome. Three in-person focus groups, and more than 150 survey responses from 15 different countries were collected, creating a critical mass of data. The information will be developed into a report that’s distributed to regulatory and industry and available globally, so they can best align research end-points.

          A poster presentation on the project was given at WORLDSymposium™ 2018.

          Click on the image below or here to view the poster.

          Sanfilippo Syndrome caregiver preference study poster presentation

          Cure Sanfilippo Foundation

          501c3 non-profit
          (Tax ID: 46-4322131)

          curesff@gmail.com

          P.O. Box 6901
          Columbia, SC 29260

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