Influencing the Community Working on a Cure
Curing Sanfilippo is our ultimate goal, but your support also allows us to play a critical roll in influencing the road that leads there.
The path from identifying symptoms to diagnosis to evaluating treatments needs to be as direct as possible and filled with accurate and patient-centric information for families, scientists, physicians, and regulators.
The following are projects led or supported by the Foundation that promote valuable, disease-specific and patient-preference information about Sanfilippo Syndrome, benefiting the scientific and medical communities as well as caregivers.
Projects To Influence Thinking
Leveraging clinical metadata in Sanfilippo syndrome: A scoping review, WORLDSymposium 2026 poster
This poster was presented at the WORLDSymposium 2026. Click on the poster to download a PDF of the poster.
Psychosocial burden in parents of individuals with Sanfilippo syndromes, WORLDSymposium 2026 poster
This poster was presented at the WORLDSymposium 2026 audience. Click on the poster to download a PDF of the poster.
“FDA’s inaction blocks progress for a cure” says Foundation’s O’Neill in USA Today op-ed
"Right now, 30 million Americans – half of them children – have rare diseases, 95% of which have no approved treatments. That’s why it’s so concerning that progress has been blocked by the recent rash of FDA denials of proposed treatments from drugmakers, despite the...
Foundation’s Dr. O’Neill publishes op-ed in The Hill, urging FDA to act
“The FDA must now ensure that its commitment to safety and efficacy is balanced with the urgency of patient need and the relentless progression of serious rare diseases. Action is needed now — before more life-saving therapies, and the patients who need them, fall...
Foundation launches family support webinar series, “Sanfilippo Speak”
Life with Sanfilippo Syndrome can be extremely isolating for parents and siblings. Few understand the day-to-day challenges of caring for a person with Sanfilippo Syndrome, fighting for their educational needs, and providing a safe and supportive environment. The most...
A Doctor And Mother’s Plea To FDA To Help Save Children With Rare Disease
The following opionion editorial by Dr. Cara O'Neill was published in International Business Times on Jan. 5, 2024.I'm confident that beneficial treatments for Sanfilippo exist today. We just need the FDA to break down the barrier to the accelerated approval pathway...
Sanfilippo researchers, leaders discuss data sharing to advance Sanfilippo Syndrome therapeutic development
Meeting summary now available to download Sanfilippo syndrome is an ultra-rare, neurometabolic disease which leads to severe neurodegeneration and multisystemic impacts for those affected. Individual heterogeneity, the protracted timespan of disease evolution across...
Replay of ADVANCE 2022, Sanfilippo conference, available on-demand
The virtual ADVANCE 2022, Sanfilippo Community Conference, July 7-8, 2022, brought together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters. All to engage and advance the work to help children...
Registration is open for ADVANCE 2022: Sanfilippo Community Conference
Registration is open for ADVANCE 2022: Sanfilippo Community Conference! A virtual conference on July 7-8, bringing together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters. All to engage and advance...
Community’s vision for Rare Disease Center for Excellence at FDA
The Speeding Therapy Access Today (STAT ACT), H.R. 1730/S. 670, includes creation of a Rare Disease Center for Excellence within the U.S. Food and Drug Administration (FDA). The legislation was introduced March 2021 and is currently assigned to the House Committee on...
Book recommendations: Talking to kids about differently-abled people
As a community of differently-abled people, it means so much when folks show love to our children through acceptance and inclusion. (I can speak personally when my daughter Eliza is shown this type of love.) Our children are often vocal, active, and spontaneous...
How sharing medical records can advance new treatments | AllStripes partnership
Sharing your child’s journey with Sanfilippo can advance new treatments Because Sanfilippo Syndrome is rare, researchers need more information directly from patients and their families to understand the condition. Your child’s progression, symptoms and health...
“Doing nothing is the biggest risk in Sanfilippo”
Sanfilippo Syndrome is ideal for the FDA's Accelerated Approval Pathway. Families are willing to accept modest benefit regarding a treatment, even if it contains risk, documents study. Glenn O’Neill closed his presentation at the 2021 Rare Disease Scientific Workshop...
Foundation applauds North Carolina lawmakers for newborn screening legislation
Ealier this month, North Carolina Governor Roy Cooper signed critical legislation that updates the state's newborn screening program. Referred to as "RUSP alignment legislation," the new state law implements a three-year timeline in which the screening must begin for...
Any developmental delay or intellectual disability calls for genome sequencing
The American College of Medical Genetics and Genomics strongly recommends exome and genome sequencing as a first or second-tier test for children with developmental delay or intellectual disability that occurs by age 18, as well as those with congenital anomalies that...
Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders
The challenges of the pandemic shined a light on the critical role of special educators and rehabilitative therapists to protect the skills of children’ with neurodegenerative disorders. This academic publication and white paper provides teachers with a guide for...
Cure Sanfilippo agrees: The need to use surrogate biomarkers in an accelerated drug approval pathway for diseases like Sanfilippo
A powerful article from Dr. Emil D. Kakkis outlines the critical need for use of surrogate biomarkers in an accelerated drug approval pathway for diseases like Sanfilippo syndrome. In the article, "Aduhelm’s accelerated approval offers a promising roadmap for rare...
Free online CME course available on Sanfilippo syndrome
A free, online, continuing medical education (CME) course is available for any healthcare provider interested in learning about Sanfilippo syndrome. The 30-minute course is targeted to healthcare providers who are unfamiliar with Sanfilippo, also known as...
AAV immunity is a significant issue for genetic therapies for all diseases
Glenn and Cara O'Neill, President and Chief Science Officer, respectively, of Cure Sanfilippo Foundation, were honored to be invited by the National Institutes of Health (NIH)/National Center for Advancing Translational Sciences (NCATS) group to speak at their...
Peer-reviewed publication of first-ever Caregiver Preference Study on Sanfilippo
The first peer-reviewed publication of the Sanfilippo Caregiver Preference Study was released in December 2020 in Neurology and Therapy. This is the first-ever Caregiver Preference Study regarding Sanfilippo Syndrome, which explores what parents consider “meaningful...