SanfilippoLINK is open to participants worldwide to advance understanding and treatments of all forms of Sanfilippo syndrome
Cure Sanfilippo Foundation is proud to announce that SanfilippoLINK, a global clinical research and patient registry platform dedicated to Sanfilippo syndrome, is now live and open for enrollment.
SanfilippoLINK integrates a clinical data portal and biobank to establish critical foundational infrastructure for the Sanfilippo community, leveraging the secure Matrix software platform and biorepository expertise of Sampled. Together, the SanfilippoLINK Portal and Biobank centralize patient, clinical, and biosample data, enabling robust real-world evidence generation for research, with an aim towards advancing therapeutic development, discovery, and an improved standard of care for all.
The SanfilippoLINK platform is positioned to:
- Generate high-quality longitudinal clinical, real-world, and biosample-linked data to support regulatory decision-making, external control natural history studies, biomarker discovery, genotype-phenotype research, and long-term evidence collection.
- Advance the development and evaluation of new therapies by supporting outcome measure refinement, enabling data and sample sharing across the research community, and reducing reliance on randomized control studies in small patient populations.
- Improve understanding of unmet medical, support, and quality-of-life needs while minimizing participation burden on families involved in multiple research studies.
- Enable families to access personalized tools within the platform.
“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. This platform will empower families with personalized tracking tools and provide real-world data to accelerate research that supports the development of meaningful therapies.” said Cure Sanfilippo Foundation Scientific & Clinician Advisory Board Member Neena Champaigne, MD, Division Chief of Medical Genetics and Genomics at the Medical University of South Carolina.
“SanfilippoLINK transforms families’ personal experiences into an enduring legacy that will shape the future of Sanfilippo Syndrome treatments and care,” said Cure Sanfilippo Foundation Chief Science Officer Cara O’Neill, MD, FAAP. “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.”
Matrix, developed by Across Healthcare, is a secure, configurable research and patient registry platform designed to help rare disease communities collect, manage, and share high-quality patient-reported, clinical, and real-world data. Built to support global participation, longitudinal data collection, consent management, and research-ready datasets, Matrix enables patient advocacy organizations, researchers, clinicians, and industry partners to collaborate around trusted data infrastructure. The platform currently supports hundreds of rare disease communities worldwide and is used to advance natural history studies, clinical research, regulatory evidence generation, and therapy development efforts.
“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.”
Sampled is an integrated laboratory and biobanking service provider with industry-leading storage, sample management, multiomics, cellular services, and custom clinical kitting. Founded in 1999 as RUCDR at Rutgers University, Sampled operates facilities in the US and UK and is CAP accredited and CLIA licensed. Sampled is committed to providing the highest quality sample storage, processing, and analysis services that enable researchers to make new discoveries and advance human health. When combined with state-of-the-art biorepository facilities, these capabilities provide comprehensive scientific solutions that speed time to quality data.
“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 & 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.”
Participation in SanfilippoLINK is open globally to individuals and their families affected by any form of Sanfilippo syndrome (A, B, C, D).
Additional information about SanfilippoLINK, including how to join, is available on the official SanfilippoLINK website, https://SanfilippoLINK.org. For inquiries, you may also reach out to Info@SanfilippoLINK.org.
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About Cure Sanfilippo Foundation
Cure Sanfilippo Foundation is a U.S. registered 501c3 nonprofit that was founded in 2013 by parents of Eliza O’Neill with a mission to accelerate scientific development and access to a cure or therapeutic options for all affected by Sanfilippo Syndrome, to drive advocacy to improve care and outcomes, and to empower families with information, guidance, and support to navigate the journey. Development of SanfilippoLINK builds on the organization’s long standing commitment to supporting rigorous, patient-centered evidence generation and reducing barriers to research participation.