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.

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. 






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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 his friends could join in the fun. Jacob was accompanied by two students who helped him kick the ball and guided him 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. A portion is donated to Cure Sanfilippo Foundation to help fund continued research for a treatment or cure for Sanfilippo Syndrome.

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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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.”

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Spencer’s Sprinters take on Genesis Battlegreen Run – Nov. 3, 2019

Spencer’s Sprinters take on Genesis Battlegreen Run – Nov. 3, 2019

Last year, Spencer’s Sprinters raised just over $20,000 for Cure Sanfilippo Foundation by running the Genesis Battlegreen Run in Lexington, MA. This year, Spencer’s Sprinters are crushing last year’s fundraising and are on their way to raising $30,000 in advance of the Nov. 3 race day.

LexFUN! and Lexington Neighbors and Newcomers’ Club organize the annual Spencer’s Sprinters effort on behalf of the Smiths, a local family whose son Spencer has Sanfilippo Syndrome. 

Like all toddlers, Spencer loves to splash in the pool with his daddy, dance in the yard with his mommy, and pet every puppy dog he can get my hands on. But unlike most boys and girls, he’s battling MPS-III, commonly known as Sanfilippo Syndrome. 

Sanfilippo Syndrome is a genetic neurological disorder that can most-easily be understood as “childhood Alzheimer’s.” Both are a death sentence, but where Alzheimer’s strikes people toward the end of their lives, Sanfilippo attacks kids just as they have begun to learn to walk and talk.

There are several teams of researchers around the world who are studying ways to treat Sanfilippo kids like Spencer who lack an enzyme that breaks down natural cellular waste. 

The funds raised by Spencer’s Sprinters helps Cure Sanfilippo Foundation architect and fund more research to treat and/or cure this terrible disease, as well as increases awareness of Sanfilippo. 

“It is absolutely amazing to see the local community continue to rally around Spencer and his family,” said Glenn O’Neill, President of Cure Sanfilippo Foundation. “Their generous outpouring of love and support for this family means the crucial research for a cure will continue. It also gives hope to every parent of a child with Sanfilippo. We thank Spencer’s Sprinters for their tireless work and wish them a great run on Sunday.”

Visit the official Spencer’s Sprinters fundraising site and see the impressive number of people helping raise funds to help Spencer and other children with Sanfilippo.

Learn more about Spencer and hear his parents’ thoughts about life with Sanfilippo Syndrome.


*** UPDATE – Nov. 4, 2019 ***

Spencer’s Sprinters sprinted past their 2019 goal and crossed the finish line raising $33,330 to benefit Cure Sanfilippo Foundation and research to cure Sanfilippo Syndrome with this year’s Genesis Battlegreen Run. 

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Help end the “Diagnostic Odyssey” for rare disease, Cure Sanfilippo joins in asking of Congress

Help end the “Diagnostic Odyssey” for rare disease, Cure Sanfilippo joins in asking of Congress

Cure Sanfilippo Foundation is among 107 organizations that co-signed a letter earlier this month to U.S. Rep. Peters (CA) and Rep. Shimkus (IL), thanking them for introducing HR 4144, the Ending the Diagnostic Odyssey Act. 

The legislation would allow states to conduct a three-year pilot program to increase the Federal Medical Assistance Percentage (FMAP) rate to provide Whole Genome Sequencing clinical services for children on Medicaid with a disease that is suspected to have a genetic cause.

Eighty percent of all rare diseases have a genetic cause. And rare disease patients average eight physicians and three misdiagnoses over the span of seven years before the correct diagnosis is discovered. This “diagnostic odyssey” causes patients to miss critical windows of opportunity for treatment, improved quality of life, and clinical trials, in addition to experiencing anguish and chronic uncertainty.

Chief Science Officer Cara O'Neill“The diagnostic resource that HR 4144 would create expedites early and accurate diagnoses of rare diseases, ending the emotional roller coaster of the ‘diagnostic odyssey,'”said Cara O’Neill, MD FAAP, Chief Science Officer for Cure Sanfilippo Foundation.

“Earlier diagnosis means patients can immediately start treatment, if available, that sustain or improve their quality of life or access a clinical trial for an experimental therapy,” said O’Neill. “This is especially critical in diseases like Sanfilippo Syndrome, where time is not on the side of patients.”

The letter, spearheaded by Genetics Alliance, is also being delivered to other members of Congress, requesting their co-sponsorship of this important bi-partisan bill. Select Senators are being asked to introduce companion legislation in that chamber.

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Swedish Sanfilippo Support Group Gives $23,000 to Cure Sanfilippo for Type C Program

Swedish Sanfilippo Support Group Gives $23,000 to Cure Sanfilippo for Type C Program

The first-ever gene therapy clinical trails, testing whether the treatment will work in children, are happening for Sanfilippo Syndrome Type A and B after decades of work by scientists, families, and foundations, including Cure Sanfilippo Foundation. 

Enabling a clinical trial to happen for Sanfilippo Syndrome Type C is among the priorities of Cure Sanfilippo Foundation. And families of children around the world with Type C are helping. 

Recently, Kampen Mot Klocken (Fight Against the Clock), a Swedish Sanfilippo group, raised $23,000 and donated it to Cure Sanfilippo in honor of Eyra who has Sanfilippo Syndrome Type C.

Kampen Mot Klokan, "Race Against the Clock," a Swedish Sanfilippo group Eyra Wieslander, living with Sanfilippo Type C

Kampen Mot Klocken raised the funds through creative and sometimes-frigid events throughout the year. 

Christmas Day polar dip fundraiser for Kampen Mot Klockan


Eyra Wieslander and her mom Ylva, living with Sanfilippo Type C“These funds were raised THANKS to volunteers who arranged dance shows, running events, a farmers day, and even a Christmas Day dip in the freezing ocean!” said Eyra’s mom . “But most of it comes from many small donations from all over Sweden – people who just wanted to help us. We have so much gratitude to both our amazing volunteers and donors.”

“These funds will go directly toward moving the Type C program forward toward a hopeful gene therapy clinical trial,” said Foundation President Glenn O’Neill. “Cure Sanfilippo is so thankful for this support from around the globe.”

Eyra’s family is one of many Type C families globally working to support the Foundation’s Type C program, including the partner families of Connor, Jonah, Mia, and Saga & Maia

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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.

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More than $1 million raised so far in 2019 to cure Sanfilippo Syndrome

More than $1 million raised so far in 2019 to cure Sanfilippo Syndrome

Carson Burroughs, living with Sanfilippo Syndrome (MPS III)

Carson Burroughs, Age 8 |  Missouri | HEAR HIS FAMILY’S STORY

As of Oct. 7, Cure Sanfilippo Foundation has again passed the $1 million-raised mark in a year, thanks to the 70+ partner families and the generous donors nationally and globally who are committed to finding a treatment or cure for Sanfilippo Syndrome. 

This is the fourth year the Foundation has raised more than million dollars, which is remarkable given that it was founded in late 2013.  And there are no plans to slow down in the final three months of the year in order to push towards the annual goal of $2 million. 

“The research, projects, and clinical trials that these donations enable the Foundation to fund are helping continue to accelerate medical options for children and HOPE for their families and parents,” said Glenn O’Neill, President and father of Eliza, MPS IIIA. “I’m truly humbled and in awe of the amazing people who donate to help us cure or treat this disease.”

In recent years, the activities and hardwork by families of children with Sanfilippo Syndrome and their friends has created significant momentum. In 2013, there were no clinical trials happening for Sanfilippo Syndrome. Now, there are multiple. More than ever, a cure feels inevitable among the Sanfilippo community. And donations are what will dictate how fast that new future happens. 

“Every single donation, no matter its size, is so special,” said O’Neill. “Each one brings us a step closer to saving lives and to giving families better days, and more good days, with their children.”

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Millions watch video of parents learning fate of daughter with Sanfilippo Syndrome

Millions watch video of parents learning fate of daughter with Sanfilippo Syndrome

Three years ago, Glenn and Cara O’Neill took the phone call that would change their family forever.

A call letting them know whether their daughter Eliza would be permitted in a possibly life-saving clinical trial for Sanfilippo Syndrome, a rare, genetic, and fatal neurodegenerative disease likened to a childhood Alzheimer’s.

And they had a personal camera documenting the moment.



Thankfully, the news was good; Eliza was accepted into the first-ever gene therapy clinical trial for Sanfilippo Syndrome, Type A, conducted by Abeona Therapeutics and Nationwide Children’s Hospital and followed by a trial for Type B. (NOTE: Both clinical trials are still enrolling patients.)

Months later, Glenn and Cara decided to share that raw and life-changing moment in the hopes of spreading awareness to gain more funding for research for the many Sanfilippo children suffering and in need of a chance at life.

Today, the video continues spreading awareness with people still sharing and viewing it. In April 2019, it surpassed 3 MILLION views on YouTube.

The video also sparked extensive interaction and discussion, with 19,000 likes, 1,800 dislikes, and more than 2,000 comments.

One of the most-common comments was the of question of why the O’Neills chose to record and share the moment. The O’Neills directly responded to the commenters with a thoughtful explanation in the hopes of providing insight to their decision:

“Any time during our journey where we feel a moment is going to be special, we video it so that perhaps we might use it to spread more awareness to gain more funding for research for the so many children suffering and in need of a chance at life. … We will film and post any personal moment if we feel it will help the cause to Cure Sanfilippo and get more funding for clinical trial options to save children.”

“We used to be a private family, but we’ve had to change that to try to get attention for this rare disease. I truly hope no one ever finds themselves in the position we and other families are, and the desperation of having your beautiful child with a rapidly degenerative terminal brain disease with no cure or treatment. Perhaps you understand now why we posted this…even if you don’t agree.”


O'Neill family - living with Sanfilippo Syndrome

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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.

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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.

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    Rome, NY, community raises $86K for fight to cure Sanfilippo Syndrome

    Rome, NY, community raises $86K for fight to cure Sanfilippo Syndrome

    The community of Rome, New York, turned out in the hundreds for the third annual My Pal Spencer Fundraiser and raised a record $86,522, benefiting Cure Sanfilippo Foundation and supporting medical research to help find a cure and create pathways to more clinical trials for Sanfilippo Syndrome.

    2019 My Pal Spencer annual fundraiser photo

    Spencer Smith, 5, is the grandson of a Rome, New York, family and has Sanfilippo Syndrome, Type A. 

    The annual fundraiser was an incredibly inspiring evening with touching speeches, an entertaining live auction, and hundreds of Sanfilippo children represented by displays at each table.

    “The tremendous kindness, love, and generosity from the Rome community and sponsors, as well 
    as the dedication of the volunteers, make this event such a huge success,” said Glenn O’Neill, President & Founder of Cure Sanfilippo Foundation and father of a child with Sanfilippo, who was present. “All in honor of Spencer and the mission to cure Sanfilippo. Thank you, Linda and team, for all you do!”

    Supporters of Spencer, on his maternal (Hinman) and paternal (Smith) sides, have now raised close to $1 MILLION dollars in just two-and-a-half years. Simply amazing.

    “On behalf of all the families with Sanfilippo, we have so much appreciation and thanks for just how much they have done to move the research needle forward!” said O’Neill.

    2019 My Pal Spencer annual fundraiser photo

    The Hinman family, grandparents to Spencer, expressing their thanks to the nearly 300 supporters in attendance at the annual fundraiser.

    See additional pictures from the event on the Foundation’s Facebook page.

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    Cure Sanfilippo competing for Chan Zuckerberg Initiative’s Rare As One project

    Cure Sanfilippo competing for Chan Zuckerberg Initiative’s Rare As One project

    We are thrilled to announce that Cure Sanfilippo Foundation is officially in the running for the Chan Zuckerberg Initiative Rare as One funding opportunity.

    Rare as One invites patient-led 501(c)(3) organizations focused on a rare disease to apply for a two-year funding opportunity to develop and launch innovative collaborative research networks in partnership with clinicians and researchers.


    On July 22, we submitted the application. We feel its a strong application with brilliant new ideas from our Scientific Team.

    “This would be huge awareness for 
    Cure Sanfilippo Foundation‘s mission and Sanfilippo Syndrome as a whole,” said Glenn O’Neill, President, Founder, and Father of Eliza (Type A).

    “Thank you to the Chan Zuckerberg Initiative for venturing into this rare disease space and realizing the urgent and unmet need for this large community.”

    In late August, invitations will be sent to selected organizations to submit full applications.


    Confirmation screen for Cure Sanfilippo Foundation's submission into CZI Rare As One project

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    Cure Sanfilippo joins in supporting amendment to manage prescription affordability

    Cure Sanfilippo joins in supporting amendment to manage prescription affordability

    Cure Sanfilippo Foundation signed-on to a letter to U.S. Senators Bill Cassidy (R-LA) and Mark Warner (D-VA), voicing our strong support of an amendment to facilitate value-based payment arrangements (VBAs) in commercial markets as part of the U.S. Senate Finance Committee’s forthcoming legislation related to prescription-drug pricing.

    The letter, led by the Council for Affordable Health Coverage (CAHC) and co-signed by 14 patient-advocacy organizations, encouraged the Senators to include the VBA amendment.

    “VBAs that link payment for medicine with patient-centered outcomes are one tool to help lower costs and promote value over volume. Public and private payers should be provided with multiple options for coverage of these transformative therapies,” stated the letter.

    Joining other patient-advocacy organizations, including partner Jonah’s Just Begun, in signing on to the letter demonstrates the wide-spread, patient-community support for the ability of VBAs to help with lowering out-of-pocket costs and improving care.

    July 2019 VBA Sign-On Letter to Amendments.


    Update: July 29, 2019 
    While the amendment was not get included in the final legislation passed out of Committee, Cure Sanfilippo continues supporting efforts for value-based arrangements to be included in the final bill language that goes to the Senate floor in the fall. Additionally, we are supportive of the House introducing a standalone VBA bill later this year.

    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

    Foundation Update – July 2019

    Foundation Update – July 2019

    When you make a donation, you make an investment in Cure Sanfilippo Foundation. We want to share how your investment continues to pave a new future for families with Sanfilippo children.

    FUNDRAISING PROGRESS UPDATE

    Through the end of June, the generous support of donors and hard work of partner families has raised $631,367 in 2019. AMAZING!

    We’re immensely thankful for the time our partner families and their friends and loved ones devote to hosting events and the treasure that people, strangers, relatives, and friends alike, have contributed. Large or small, every donation and fundraiser counts. Your contributions are turning hope into action to save children.

    People support the Foundation in so many ways – collecting change, making donations in lieu of wedding favors, involving their local school and businesses – each an expression of their own personalities and kindness. One that continues to amaze us are the people who create their own Facebook fundraisers on behalf of the Foundation’s mission, often forgoing their birthdays to fund research to cure Sanfilippo. And they’re often relatives and friends of Sanfilippo families, who have chosen to purpose over presents.

    And this year, more than a dozen Sale2Save lemonade, yard, and bake sales by families, friends, and supporters collectively raised nearly $10,000. And while the “official date” was June 15, it is a simple fundraiser that can be hosted anytime this summer. 

    2019 Sale2Save 2019 Sale2Save 2019 Sale2Save

     

    RESEARCH + SUPPORT PROJECTS UPDATE

    We’re working daily to fill gaps in knowledge and information among the medical and scientific communities and general public and to directly influence the pace, focus, and measurement of research of patient-focused treatments and therapies for children with Sanfilippo Syndrome.

    Scientific & treatment projects on the horizon

    Thanks to your support, we’re working on several new research projects to tackle aspects of treating Sanfilippo, including the inflammation side effect, the body’s production of heparin sulfate (the sugar that can’t be broken down), and next-generation gene therapy. We hope to have details of one project solidified soon so we can share the news with you. But science is an ever-evolving field, so moving things forward is a bit like aiming at a shifting target, which naturally takes longer and requires careful attention to details. We’re committed to getting it right and bringing this new research to kids as quickly as possible.

    Beyond new research, your funding of past projects continues to make a difference. For example, the funds that helped launch the gene therapy clinical trial in 2016 continues to benefit Sanfilippo kids and their families today. The company is still running the trial, adding new children, giving even more families a chance at changing fate. And it’s all because of you. Your investment made the clinical trial initially happen.

    Visit the Foundation’s research page for details about the projects underway. 

    INFLUENCING COMMUNITY & AWARENESS

    SPEEDING DIAGNOSIS BY EMPOWERING PEDIATRICIANS

    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.

    STORY OF HENRY & BLAIR RAISES AWARENESS

    Henry and Blair, a devotion like you wouldn't believeIn May, the story of Henry’s devotion to his beloved Blair, even in the final moments, was shared with the world. Learning about Sanfilippo Syndrome through the eyes of Henry, the video was viewed nearly 300,000 times and shared more than 2,400 times, bringing greater awareness about the need to cure this disease.


    KEEPING SANFILIPPO IN THE SPOTLIGHT

    Being seen is part of being known, which is why we accept opportunities to represent the Sanfilippo community and speak about the Foundation’s mission. Most recently, Chief Science Officer Cara O’Neill was the dinner keynoter at the National Institute of Health’s CNS Immunogenicity Meeting, President Glenn O’Neill was a featured panelist at the Rare Innovation & Partnering Summit, and VP of Marketing Katie Walton participated in the BioMarin Patient Advocacy Forum alongside other rare disease advocacy organizations, including Jennifer Siedman of Ben’s Dream – Sanfilippo Research Foundation and the Courageous Parents Network.

    Cara O'Neill speaking at 2019 National Institute of Health’s CNS Immunogenicity Meeting Glenn O'Neill speaking at 2019 Rare Innovation & Partnering Summit Katie Walton at 2019 BioMarin Patient Advocacy Forum

    While in Washington, DC, for the CNS Immunogenicity Meeting, Cara took advantage of the meetings on Capitol Hill to deliver the parent perspective of Sanfilippo and rare disease to Congressional offices, including U.S. Senator Tim Scott (R-South Carolina) who sits on the Committee on Health, Education, Labor, and Pension. 

    Cara O'Neill in front of U.S. Capitol Cara O'Neill meeting with U.S. Senator Tim Scott

    ORGANIZATIONAL UPDATE

    We are a network of Sanfilippo families that continues growing

    We are incredibly proud and deeply humbled by the more than 65 partner families who have chosen to align with the Foundation’s efforts. They *are* the Foundation. And every day, we endeavor to represent and fight for their best interests.

    Hero Matthew
    Matthew
    Age 5 | Massachusetts
    Read his family’s story



    Competing for Chan Zuckerberg Initiative’s “Rare As One” project

    The Chan Zuckerberg Foundation has invited patient-led 501(c)(3) organizations to apply for a two-year funding opportunity to develop and launch collaborative research networks in partnership with clinicians and scientists. This opportunity would help the Foundation expand the impact of our thought-leadership and innovative approaches regarding patient involvement in scientific research and empowering clinicians with genetics tools and resources, further improving evaluation of therapies and getting children diagnosed sooner.
    Thank you for fighting to save children and their families

    Read more

    Cure Sanfilippo Asks U.S. Senator Graham to Include Funding for Rare Disease Burden Study

    Cure Sanfilippo Asks U.S. Senator Graham to Include Funding for Rare Disease Burden Study

    Understanding the economic impact of rare disease, as a whole, on all aspects of society is a critical need in order for public and private entities to make the best policies and decisions possible.

    Cure Sanfilippo Foundation has joined with other patient-led rare disease advocacy organizations working to fill that gap by asking members of the U.S. Senate Appropriations Subcommittee on Labor, Health and Human Services, Education, and Related Agencies to include $1.5 million to its appropriations bill to study the economic and societal burdens of undiagnosed and untreated rare diseases.

    Based in Columbia, South Carolina, Cure Sanfilippo sent the following letter requesting support to U.S. Senator Lindsey Graham (R-SC) who serves on the committee.

    Letter to U.S. Senator Lindsey Graham asking for funding for rare disease burden study

    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.

    Read more

    Dog mourning his human fights to change fate for other terminally-ill kids

    Dog mourning his human fights to change fate for other terminally-ill kids

    Henry was just a puppy when he met the love of his life. Blair was bright eyed and dark haired, just like him, and they bonded instantly. “Constant companions” would be putting it lightly.

    Henry The Black Poodle standing guard over Blair ChapinSo when things started to change for Blair because of Sanfilippo Syndrome, Henry was more devoted to her than ever. She needed him, through the seizures, through her body’s slow loss of every ability, even through the moment when she took her last breath. And he was there, standing guard and comforting her.

    At the age of 14, Blair passed away on April 4, 2017. Henry misses her every day, but he also fights for a day when special bonds like theirs no longer end too soon because of Sanfilippo Syndrome. He’s hoping to raise $100,000 and has created a three-minute video sharing his story that you can see on his GoFundMe page www.HenryAndBlair.com.

    When Blair and Henry found each other, their lives changed forever. Help Henry change the lives of other Sanfilippo children, to find a cure, by sharing his story and fight.

    See the Facebook post where Henry’s story debuted.

    Read more

    Foundation Update – April 2019

    Foundation Update – April 2019

    When you make a donation, you make an investment in Cure Sanfilippo Foundation. We want to share an update on how your investment continues to pave a new future for families with Sanfilippo children.

    FUNDRAISING PROGRESS UPDATE

    Thanks to your tremendous support, $400,000 was raised in first-quarter 2019, largely from fundraisers and events hosted by several of the Foundation’s partner families. Large or small, every fundraiser and donation counts. And we’re immensely thankful for the time our partner families and their friends and loved ones devote to hosting events and the treasure that people like you — strangers, relatives, and friends alike — have contributed. You can’t help but believe in the goodness of our world when you see generosity and kindness like this.

    Since the Foundation was created in late 2013, fundraising has largely relied on a few main sources: people generously supporting partner families leveraging their personal networks and viral campaigns attracting grassroots support. To continue growing as a Foundation, we’re exploring other sources for donations and income to support our mission, including options for private foundation grants. It’s a new realm that we’re diving into, but we have high hopes.

    RESEARCH + SUPPORT PROJECTS UPDATE

    We’re working daily to fill gaps in knowledge and information among the medical and scientific communities and general public and to directly influence the pace, focus, and measurement of research of patient-focused treatments and therapies for children with Sanfilippo Syndrome.

    Scientific & treatment projects on the horizon

    • Thanks to you support, the Foundation is working to start a clinical trial in 2019 for a new treatment method to reduce inflammation of the brain, a severe effect of Sanfilippo Syndrome that causes brain damage, which could improve a child’s quality of life.
    • Work is underway to plan and fund a clinical trial for a new gene therapy treatment.
    • In addition to these, the Foundation is constantly seeking and collaborating with others on additional research and treatment projects, including some under consideration that show promise and are going through our due-diligence review process.
    Many research projects funded by the Foundation are continuing to move along with promise. Visit the Foundation’s research page for details about the projects underway. 

    Conducting first-ever caregiver preference study

    The researchers, the U.S. Food and Drug Administration (FDA), drug companies, and doctors studying Sanfilippo Syndrome don’t live with the disease like the families do. Which can cause mis-alignment regarding measuring treatment benefits. To bridge that gap and help investigators better appreciate meaningful change and benefit, 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 submitted, 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 better align research end points.

    Read more about the Caregiver Preference project.

    Developing global clinical management guidelines

    Among the Foundation’s current efforts to elevate awareness among the medical and scientific communities, we are collaborating with Sanfilippo Children’s Foundation (Australia) to create Global Clinical Management Guidelines for Sanfilippo Syndrome.

    Doing so creates best practice guidelines critical for patients and health care professionals in the management of rare diseases where scarcity of expertise is a well-known and far too-common cause of late or incorrect diagnosis and care. Such guidelines allow physicians 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 treatment.

    Having guidelines available shortens the time to diagnosis in rare diseases due to the increased awareness and the available resource to clinicians around the world. As several programs related to Sanfilippo Syndrome move through the translational pipeline to clinical trial, the need for such clinical guidelines has become increasingly evident. 

    INFLUENCING COMMUNITY & AWARENESS

    Advocating for families and patients with FDA

    Supported by your donations, our team works tirelessly towards the mission to cure Sanfilippo, and it is getting noticed. Recently, Chief Science Officer (and mom to Eliza, MPSIII) Cara O’Neill was invited to join industry partners for a meeting with the FDA. Her ability to provide a patient-advocate perspective and voice, in addition to medical and scientific expertise, makes her a sought-after mind to have at the table regarding the path of potential treatments for Sanfilippo Syndrome.

    Clarifying roadmap for newborn screening of Sanfilippo

    Cara also attended the 2019 Newborn Screening Bootcamp in early April to represent Sanfilippo Syndrome. She was able to gain valuable insight from those ahead of us on the road to be included on the newborn screening test, and how they were able to accomplish it. “We’ve got a lot of work to do for MPSIII, but seeing and helping forge the path ahead is exciting!” said Cara. 

    Thank you to EveryLife Foundation for a travel stipend for Cara to attend this important informational session. 

    ORGANIZATIONAL UPDATE

    We are a network of Sanfilippo families that continues growing

    We are incredibly proud and deeply humbled by the more than 65 partner families who have chosen to align with the Foundation’s efforts. They *are* the Foundation. And every day, we endeavor to represent and fight for their best interests.

    Hero Matthew
    Matthew
    Age 5 | Massachusetts
    Read his family’s story


    Be a ripple in the pond; sell lemonade during nationwide Sale2Save fundraiser in June

    2018 Lemonade Stand for Luke BittnerEvery year,  you — the families, friends, and supporters of Sanfilippo children — host garage, lawn, lemonade, and bake sales around the country to support research to cure Sanfilippo Syndrome. Join us for this year’s Sale2Save on Saturday, June 15. Nationwide events like these are powerful because of their scale. Think of it like this: if you are one of 20 people holding a Sale2Save in your front yard and generate $500 each, that amounts to $10,000! Image if you’re one of 50 people raising $1,000 … $50,000! Be a part of that magic.

    Adding a new member to Cure Sanfilippo team

    After nearly five years as a volunteer leader with the Foundation, Katie Walton joined full time as VP of Marketing to enhance our ability to professionally present and drive the Foundation mission, values, and accomplishments, in a customized way, to a variety of audiences via different mediums. Your support of the Foundation enables us to make this addition to the team, which will lead to more engagement and more ongoing support to move our mission forward, faster; always our goal. 

    Other News

    Viral video still circling the globe, but not the one you’re probably thinking of

    Three years ago, Glenn and Cara O’Neill took the phone call that would change their family forever. A call letting them know whether their daughter Eliza would be permitted in a possibly life-saving clinical trial for Sanfilippo Syndrome. And they had a personal camera documenting the moment. Thankfully, the news was good; Eliza was accepted.

    Months later, Glenn and Cara decided to share that raw and life-changing moment in the hopes of spreading awareness to gain more funding for research for the many Sanfilippo children suffering and in need of a chance at life.

    Today, the video continues spreading awareness and you and other people are still sharing and viewing it. Earlier this month, it surpassed three million views on YouTube. Thank you for continuing to help spread awareness.

    “Saving Eliza” video launched to the world five years ago

    On April 2, 2014, the three-minute “Saving Eliza” video was released. A gamble. A shot in the dark. But filled with hope. In the first 15 days, you helped the video raise $500,000, every dollar going to fund research to help all children with Sanfilippo Syndrome. By the summer, your support drove Saving Eliza to become GoFundMe’s first campaign to ever reach the $1 million-raised mark. In late 2014, it became the first to reach $2 million, thanks to your continued sharing and giving. As a result of your generosity, the gene therapy clinical trial was funded and at least 15 children, including Eliza, have since been treated.

    Read more



    Science & Research News

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

    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

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      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. 

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      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.

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      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 can be found here:
      presentation poster from the WORLD Symposium 2019.

      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



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      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

      N