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.
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.
“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.
Adam 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.”
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 Klocken raised the funds through creative and sometimes-frigid events throughout the year.
“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.
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 LUKEThis 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 POWERWith 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 EMILYForever 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.
The 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 INSPIRATIONALPerseverance 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 HAMMERWhen 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.
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.”
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.
Most 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.”
Sharing 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.
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.
See additional pictures from the event on the Foundation’s Facebook page.
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.
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.
A 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.