SanfilippoLINK is an international, secure clinical research and patient voice registry platform built specifically with the needs of the Sanfilippo syndrome community in mind. This centralized approach facilitates the collection of high-quality, longitudinal clinical data and biosamples across all subtypes of Sanfilippo syndrome (Types A, B, C, and D).

SanfilippoLINK consists of two connected elements:

• SanfilippoLINK Portal, a secure online registry hosted by Matrix. Here, participants (individuals affected by Sanfilippo, their caregivers and family members) can enter information about their health and experiences. Clinicians can also securely enter information into the Portal.
• SanfilippoLINK Biobank, a repository of biological samples from individuals affected by Sanfilippo and their family members hosted by Sampled.

SanfilippoLINK was established and is managed by Cure Sanfilippo Foundation and collaborates with Sanfilippo patient organizations, researchers and clinicians to serve the global community.

The goal of SanfilippoLINK is to facilitate an ongoing, high-quality repository of centralized information about the health and the lived-experiences of those with Sanfilippo syndrome. This includes those directly affected (living or deceased), their families, and clinicians providing care for patients. In addition to participating in questionnaires, medical records and biosamples (optional) will be collected as part of this important research effort.

SanfilippoLINK is designed to:

• Collect real-world information that truly matters to families in the Sanfilippo community.
• Increase opportunities for all patients to participate in research regardless of age or disease stage - even loved ones who have passed away.
• Support the success of clinical trials and development of treatments by improving how symptom change over time is measured, and better understand treatment effects.
• Fill critical gaps in natural history data and outcome measurement to fully capture the spectrum of disease effects and progression over time.
• Create an external control dataset to be referenced in clinical trials, reducing the need for randomized placebo-controlled study designs.
• Accelerate the discovery and validation of biological signatures (biomarkers) resulting from biosample analyses that relate to disease progression and how treatments are working.
• Facilitate data and biosamples sharing and support research collaboration across different studies.
• Inform best practices in patient care.
• Provide helpful tools to families:, individualized tracking of symptoms and activities, insights, ability to keep health information in a unified portal, and opportunities to stay informed about new research opportunities, and more.

Joining SanfilippoLINK provides a unique opportunity for patients and caregivers to actively contribute to the advancement of knowledge and treatment options for this rare condition. By sharing your experiences and insights, you become an integral part of a global research effort to accelerate treatments for all types of Sanfilippo syndrome.

Your participation not only helps researchers and clinicians better understand Sanfilippo syndrome but also directly impacts the development of new therapies and interventions. Together, we can make a difference in the lives of those living with Sanfilippo syndrome now and for generations to come. Join the mission by enrolling today!

• Your experience matters: Join to be part of creating a better tomorrow for all!
• Contribute to Research & Shape Future Therapies: Your participation directly contributes to advancing knowledge and treatment options for those with Sanfilippo syndrome today and in the future. You can be part of research history from your own home.
• Impact Patient Outcomes: Help researchers and clinicians better understand how the disease manifests in different people over time, which can lead to improvements in health and quality of life for affected individuals.
• Gain Access to Useful Tools: Use the SanfilippoLINK symptom self-tracking tools, gain insights,, consolidate your health records and other information, stay up to date on new research opportunties, and more.
• Global Collaboration: Join a global effort to focus Sanfilippo syndrome data and expertise in tackling this rare condition, fostering collaboration among patients, caregivers, researchers, and clinicians.
• Be Empowered: By sharing your experiences and insights, you empower yourself and others within SanfilippoLINK with information to create positive change and advocate for better care and support.

SanfilippoLINK is open to individuals diagnosed with all types of Sanfilippo syndrome (A,B,C,D), their caregivers/parents, Legal Authorized Representatives (LARs), and family members.

SanfilippoLINK participants may include:

• Persons with Sanfilippo syndrome who are of legal adult age and able to consent for themselves.
• Legally Authorized Representative (LAR) (e.g., a parent, guardian, or spouse) of the person with Sanfilippo syndrome who is a minor (child) or an adult who is not able to consent for themselves.
• Family members of a person with Sanfilippo syndrome (e.g., a sibling, a parent who is not the designated LAR).
• Representative of a deceased individual who had a diagnosis of Sanfilippo syndrome.

• Follow the link to register on the secure SanfilippoLINK Portal website.
• Informed Consent Form: Carefully read the Informed Consent form before agreeing to participate in SanfilippoLINK. This document contains detailed information on how information in SanfilippoLINK will be collected, stored, and used for research. If you consent to participate, you can electronically sign the consent document and proceed to the first SanfilippoLINK survey. If you've already signed the consent form and set up your account, you can log in directly to SanfilippoLINK.
• Provide a unique Clinical Research Identifier (CRID code) to link all your data together in a private, non-identifiable manner. After generating your CRID code, return to SanfilippoLINK to enter your code and proceed to the next survey.
• Complete remaining online surveys covering topics such as general information, demographics, diagnosis, communication preferences, clinical research participation, medical history, symptoms, etc.
• Upload test reports and other documents. For U.S. participants, you also have the option to securely-link electronic medical records for a more complete picture.
• Come back regularly to use the helpful tools (i.e. personalized symptom tracking) and update your information.

Please contact us with any questions.

Active participation in SanfilippoLINK plays an essential role in advancing research in this field. By sharing your valuable insights, health information, and biological samples, you will make a direct and lasting impact on research and care advances.

Your contributions enable researchers to better understand the natural history of Sanfilippo syndrome, and conduct research studies to answer the many remaining questions about Sanfilippo. Ultimately, your contribution helps lead to improved treatment options and outcomes. Representation of those affected by all forms of Sanfilippo (A, B, C, D - including rapid progressing, slowly progressing, attenuated phenotypes) across their life journey is key to learning as much as possible about how Sanfilippo affects individuals in each of these circumstances.

This de-identified, aggregated data from SanfilippoLINK serve as a valuable resource for uncovering insights into disease progression, treatment effectiveness, and identifying areas for further investigation. Researchers’ access to this data is governed by stringent guidelines set forth by the SanfilippoLINK Advisory Committee, ensuring ethical oversight, privacy protection, and the scientific relevance and quality of projects using SanfilippoLINK.

Research applications may request access to SanfilippoLINK to analyze data, conduct research studies within the platform, or share information with participants about other research studies. Researchers are required to demonstrate that their project has been approved by an Institutional Review Board (IRB), which ensures patient protection in research studies, before being considered by the SanfilippoLINK Advisory Committee.

The SanfilippoLINK Portal, hosted on the Matrix platform, adheres to best practice industry-standard security controls like encryption, secure logins, and role-based access as well as strict government guidelines to ensure the protection of patient information. The platform is served over HTTPS, encrypting data transmitted between the user’s browser and the Matrix servers.

Additionally, data is stored in encrypted form within the SanfilippoLINK Portal secure database on the Matrix platform. All research databases are housed in regulatory-compliant, secure data centers. SanfilippoLINK complies with privacy regulations such as HIPAA (U.S. health data privacy), GDPR data subject rights (European Union and Switzerland resident data protection), FDA Code 21 CFR Part 11 (controls for electronic records and audit trails used in regulated research), and Cures Act guidelines, and undergoes annual third-party audits.