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
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...
2nd annual World Sanfilippo Awareness Day to be celebrated Nov. 16, 2020
People around the world are making a significant difference for children with Sanfilippo Syndrome. Each day, an effective, approved, and available treatment for Sanfilippo Syndrome is closer. Each year, World Sanfilippo Awareness Day is celebrated by this community...
Medical records of Sanfilippo children can accelerate discovery of a treatment
Parents and caregivers of children with Sanfilippo Syndrome have the opportunity to help accelerate drug development for the disease right from their homes. AllStripes, formerly RDMD, is a research platform dedicated to rare diseases that enables patients to...
Lack of appropriate education for children with significant special needs
Dr. Cara O'NeillChief Science Officer for Cure Sanfilippo Foundation The pandemic has Cure Sanfilippo Foundation embarking on some new advocacy work by Chief Science Officer Cara O'Neill. Many, many children with significant special needs, especially children with...
Global Genes’ RARE Cast podcast interviews Cara O’Neill
Dr. Cara O'Neill, Chief Science Officer for Cure Sanfilippo Foundation, discussed her own journey with Sanfilippo Syndrome, issues causing diagnostic delay, and how the Foundation is helping advance science for a cure in an interview as the Aug. 28 guest on Global...
“What is a life worth?” is an unconscious bias among clinicians
Dr. Cara O'Neill is Chief Science Officer for Cure Sanfilippo Foundation and mother to a 10-year-old daughter with Sanfilippo Syndrome. During a wide-ranging interview with Sonia Adnan of Instagram's autismlifegram.md, they explored the mentality toward treating...
‘Watch and wait’ approach to developmental delays is not acceptable anymore, says Dr. Cara O’Neill
Dr. Cara O'Neill, Chief Science Officer for Cure Sanfilippo Foundation, is also mother to a 10-year-old daughter with Sanfilippo Syndrome. She urged that the traditional "watch and wait" approach by physicians when a child first exhibits developmental delays is not...
Cure Sanfilippo joins in calling for addition to Cures 2.0 legislation
Cure Sanfilippo Foundation is one of 46 patient advocacy organizations to sign-on to a letter asking U.S. Representatives Diana DeGette (D-Colorado) and Fred Upton (R-Michigan) to include H.R. 4144 - Ending the Diagnostic Odyssey Act in the Cures 2.0 legislation. The...
Foundation contributes to published list of early symptoms of MPS III
Cure Sanfilippo Foundation Chief Science Officer Cara O'Neill, MD, FAAP, and Board Member Valerie Byers, PhD, are among the contributors of a newly-published paper that identifies the most-important, early symptoms of Mucopolysaccharidosis III (MPS III) to assist...