Grounded in a deep understanding of the Sanfilippo research landscape and lived experiences, SanfilippoLINK employs a patient-centered approach to ensure that collected data are both scientifically robust and clinically meaningful. By enabling data collection by families, patients, and clinicians within a single, interoperable ecosystem, the platform aims to fill critical gaps in natural history and outcome measurement to more fully capture the spectrum of multisystemic disease burden and progression over time.

SanfilippoLINK is designed to:

• Facilitate a robust repository of data and samples about Sanfilippo syndrome.
• Create a growing external control natural history datase comprised of high-quality, integrated data (clinical data, patient-reported data, electronic health record data, and biosample analytics), which can reduce the need for randomized control studies.
• Identify and quantify unmet medical, support, and quality-of-life needs to inform evolution of clinical care.
• Enable biomarker and genotype-phenotype advancements through clinical data (SanfilippoLINK Portal) linkage to biosamples (SanfilippoLINK Biobank).
• Test and refine outcome measurement tools to accelerate the design, evaluation, and regulatory advancement of new therapies.
• Minimize burden on families who may participate in multiple research studies.
• Support data and sample sharing across the research community.
• Develop high-quality standards to reduce variability across databases or biobanks and increase quality of research outcomes.

SanfilippoLINK consists of two components: SanfilippoLINK Portal, a secure online data collection platform hosted by Matrix, and SanfilippoLINK Biobank, a repository of biological samples hosted by SAMPLED.

SanfilippoLINK Portal questionnaires were built using common data element standards, and include topics such as:

• • Socio-demographics
  • Medical history and diagnostic reports
  • Clinical signs, symptoms, and disease progression
  • Treatment and medical management
  • Clinical research participation

Through this integrated approach, SanfilippoLINK serves as foundational infrastructure to de-risk and accelerate therapeutic development, improve patient care and deepen our understanding of disease spectrum, and reduce barriers for patients, caregivers, clinicians, and researchers to participate in and conduct research. SanfilippoLINK facilitates these aims while ensuring that the patient voice is at the forefront of research and care.

If you are interested in applying to conduct a research project, access research data and/or biological samples, or notify participants about an opportunity to participate in a research study, please contact us using the form below Requests are contingent upon review and project approval.