Cure Sanfilippo Foundation is proud to announce the development of SanfilippoLINK, a dedicated international Sanfilippo syndrome clinical research and patient voice platform. The goal of SanfilippoLINK is to better understand the evolution of disease symptoms, inform care, and accelerate research and the development of meaningful therapies for all forms of Sanfilippo syndrome (A, B, C, D).
SanfilippoLINK has two key components, the data Portal and the Biobank. Together, these components centralize patient, clinical and biosample data, enabling robust real-world evidence generation for research and for drug review agencies. For example, data and insights from SanfilippoLINK could be used to support FDA applications and long-term evidence, creating an important resource for drug development and enabling smoother approvals.
“As a parent of a child with Sanfilippo, it means so much to have a way for my daughter’s experiences to truly count,” said Elise Drake-Esposito, Cure Sanfilippo Foundation Volunteer Research Projects Coordinator and parent of a child with Sanfilippo syndrome. “SanfilippoLINK gives our family a tangible way to contribute to research right from our own home – helping scientists better understand our children and develop treatments focused on what matters most to them. SanfilippoLINK empowers families like mine with tools to track individual symptoms, learn from community experiences, and share with our care team. By enrolling we can make a meaningful impact for all the children and honor our own child’s precious life.”
Qualified researchers will be able to benefit from SanfilippoLINK to conduct research projects, access data and samples in their study of disease symptoms, care needs, and development of treatments.
“SanfilippoLINK is designed to support and accelerate patient-centered drug development and clinical care for Sanfilippo syndrome,” said Cara O’Neill, MD, FAAP, Chief Science Officer and Co-Founder of Cure Sanfilippo Foundation. “Biosamples from individuals with Sanfilippo are a critical yet limited resource and are often not linked to the longitudinal patient data needed to fully interpret biomarker and clinical research findings; SanfilippoLINK aims to overcome this barrier.”
Creation of SanfilippoLINK reflects Cure Sanfilippo Foundation’s commitment to ensuring that patient data, family experiences, and biological samples are thoughtfully collected, securely managed, and actively utilized for research to move the field forward faster and together.
More information coming later in 2026.