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...
Thought-Leadership Projects
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...