Online research platform for Sanfilippo families goes live

Enrollment is now open for SanfilippoLINK, a global clinical research and patient registry platform that aims to advance scientific understanding of Sanfilippo syndrome.

The platform, operated by the Cure Sanfilippo Foundation, is open to people with all types of Sanfilippo syndrome.

The platform consists of two parts. First, there’s the SanfilippoLink Portal, an online patient registry where people affected by Sanfilippo can enter information about their health and experiences. The portal can be accessed by people with Sanfilippo as well as their caregivers, family members, and doctors. This will offer scientists a unique opportunity to better understand the lived experiences of people with Sanfilippo syndrome.

The platform’s second part is the SanfilippoLINK Biobank, a repository of biological samples collected from people with Sanfilippo syndrome and their biological relatives. The samples will be identified using an anonymized code to protect participants’ privacy and will allow scientists a new resource with which to conduct research into the biology of Sanfilippo syndrome.

“SanfilippoLINK transforms families’ personal experiences into an enduring legacy that will shape the future of Sanfilippo Syndrome treatments and care,” Cara O’Neill, MD, chief science officer at Cure Sanfilippo, said in a foundation press release. “As a parent who is also navigating life with Sanfilippo, the opportunity to have my daughter’s journey live on beyond our personal experience and to help contribute a brighter future for other children is incredibly meaningful to me.”

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Accelerating research

“SanfilippoLINK creates a much-needed tool to address critical gaps in our understanding of this disease while reducing barriers to long-term research participation for our community,” said Neena Champaigne, MD, division chief of medical genetics and genomics at the Medical University of South Carolina and a member of the Cure Sanfilippo Foundation’s scientific and clinician advisory board. “This platform will empower families with personalized tracking tools and provide real-world data to accelerate research that supports the development of meaningful therapies.”

The platform is being operated in partnership with Sampled, a company that provides laboratory and biobanking services.

“Advancing research into rare diseases like Sanfilippo requires bringing together high-quality clinical data with well-managed biological samples,” said Shareef A. Nahas, PhD, chief scientific officer and clinical laboratory director at Sampled. “As the sole biobank for SanfilippoLINK, we are responsible for the collection and storage of irreplaceable patient samples, creating a critical foundation that complements the portal and enables more meaningful, data-driven research.”

The platform uses software called Matrix, developed by Across Healthcare, to manage patient-reported data.

“SanfilippoLINK reflects exactly why Matrix was created: to give patient communities secure, scalable infrastructure to turn lived experience, clinical information, and longitudinal data into meaningful research assets,” said Jason Colquitt, founder and CEO of Across Healthcare. “We are honored to support Cure Sanfilippo Foundation in building a platform that can reduce burden on families, strengthen the evidence base for Sanfilippo syndrome, and help accelerate the path toward better treatments and care.”