SanfilippoLINK, established by Cure Sanfilippo Foundation, is an international, secure clinical research and patient voice registry platform built specifically with the needs of the Sanfilippo syndrome community in mind. Consisting of the secure data SanfilippoLINK Portal and Biobank, this centralized approach facilitates the collection of high-quality, longitudinal clinical data and biosamples from individuals with all subtypes of Sanfilippo syndrome (Types A, B, C, and D) and their families. This initiative aims to support better understanding of disease progression, inform care, and accelerate the research and development of meaningful therapies.

A biobank is a storage facility that stores and manages biological samples, also called biosamples, for use in research. SanfilippoLINK Biobank is hosted by SAMPLED, a fully integrated laboratory and biorepository with industry-leading storage, security, and analytical services located in New Jersey (USA) and Glasgow (Scotland).

A natural history study is a preplanned observational study designed to track the course of how a disease manifests in affected individuals over time. It describes how the disease starts, develops, and changes - from before any symptoms appear through all its stages.

Natural history studies often aim to find trends within those affected by the disease. They also help identify factors including genetic, sociodemographic, environmental, and other variables (e.g., routine medications or illnesses) that may explain the differences in symptoms and changes over time that are seen in different individuals with the same disease.

This type of natural history data play significant roles in defining and characterizing medical understanding of disease progression, patient populations, novel biomarkers, genetic correlations, and patient care best practice development. In addition, these studies can serve as an ‘external control arm’, allowing for comparisons between untreated disease progression and experimental treatment results, without having to conduct a randomized, placebo controlled trial.

Natural history data on all forms of Sanfilippo syndrome will be collected via the SanfilippoLINK Portal and biosamples via the Biobank.

Data is collected through a secure web-based application (that can be accessed by computer, tablet or mobile phone). This secure software platform hosted by Matrix, enables patients, caregivers, family members, clinicians, and researchers to collect and manage rare disease data in one place. Study participants respond to questions grouped within a series of surveys which are developed per study standards and in collaboration with Sanfilippo syndrome experts.

Clinicians who request use of the SanfilippoLINK platform, may also enter data for their patients.

Patients, family members and/or caregivers will be asked to complete surveys, and provide information on topics such as:

• Socio-demographics
• Medical history
• Research participation
• Signs and symptoms
• Treatment and disease progression
• Management of care

Participants in SanfilippoLINK will be asked to upload documents related to the diagnosis such as diagnostic test reports that were performed in making the diagnosis of Sanfilippo syndrome or other medical records for research purposes. You may also find that it is convenient for you to have these key documents easily accessible to you within the platform.

Participants may also choose to share additional documents, to provide a more complete picture of daily life and disease impact. With permission, SanfilippoLINK may also request access to relevant medical records to help researchers better understand how Sanfilippo syndrome changes over time and to help answer research study questions. Participants in the United States also have the opportunity to securely connect electronic medical records directly to the SanfilippoLINK platform. All information is handled securely and used only for approved research purposes.

The SanfilippoLINK’s informed consent describes exactly what is collected, how it will be used, and who can access it.

To make strides in research and understanding of very rare diseases, like Sanfilippo syndrome, being able to share and connect de-identified data is considered to be very important by experts. To share data in a private way, a unique identifier code is needed - a CRID code is one example of this type of code. The code itself does not contain personally identifying information. Making the most of data contributed to SanfilippoLINK by the community means being able to connect this data with other research data and biosamples through a CRID code.

To connect data in a secure and private way, SanfilippoLINK uses a unique identifier code called a CRID code (Clinical Research ID). The CRID code method was chosen because it allows patients and families to be in control of generating their own CRID code. Participants then can share their own CRID code with research programs they choose to participate in now and in the future, instead of relying on codes generated by each separate research programs’ algorithms, (many of which may not be sharable across databases or that become lost after research studies are finished). With a CRID code, the participant is in control.

The CRID code allows for participant data to be connected in a way that protects their privacy and does NOT reveal their identity. Data and samples associated with a CRID code are considered ‘de-identified’.

You can generate a CRID code at this link (www.thecrid.org). Caregivers, family members and individuals with Sanfilippo syndrome can each have their own CRID code.

Cure Sanfilippo Foundation (CSF) is the sponsor of SanfilippoLINK and is responsible for the overall management, oversight, and stewardship of the research data, biosamples, and platform on behalf of the Sanfilippo community. The Foundation oversees appropriately trained staff, qualified researchers, and operational partnerships to support SanfilippoLINK activities, including the conduct of research and natural history studies utilizing the SanfilippoLINK Portal and Biobank. CSF is also responsible for the costs associated with the operation and management of SanfilippoLINK.

Overall, the sponsor’s role is to:

• Act as a facilitator of research activities between participants and researchers
• Enable data sharing while protecting patient privacy
• Promote research centered around patient needs and priorities
• Ensure that the study is conducted in an ethical and scientifically-rigorous manner, upholding regulations as they apply to the study

Cure Sanfilippo Foundation is a U.S. registered 501(c)3 nonprofit that was founded in 2013 by a pediatric physician and parents of a child impacted by Sanfilippo 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. The foundation’s work is guided by its Scientific and Clinical Advisory Board, Board of Directors, and importantly, community parent and patient perspectives.

A Principal Investigator (PI) is the person with the primary responsibility for the design and conduct of a research project or study. The Principal Investigator (PI) of SanfilippoLINK is the lead researcher responsible for design, conduct and oversight of the study, its staff, and research involving the data and biosamples collected through the program.

A study participant is an individual who is enrolled in a research study. For SanfilippoLINK, study participants can include someone with a confirmed diagnosis of Sanfilippo syndrome, their legal representative or caregiver, and family members who are biologically related to the individual with Sanfilippo syndrome. A representative may also participate on behalf of someone with Sanfilippo syndrome who is deceased.

Participants can reside anywhere in the world. They will need to have at least periodic access to the internet to complete the web-based study activities and be able to complete forms in the language presented.

A Legally Authorized Representative (LAR) is someone who is authorized under applicable law, to consent and enter data in SanfilippoLINK on behalf of another individual. The LAR may be a parent, grandparent, spouse, caregiver, or guardian as long as they have the legal authority to grant consent to participate in research on behalf of that individual. A LAR will sign up on the SanfilippoLINK Portal with a "Caregiver" account.

An Informed Consent Form (ICF) is a document that provides potential research study participants with key information about research studies - in this case about SanfilippoLINK. This document helps potential participants to make a well informed and voluntary decision about whether to enroll in the research or not. Information provided in an ICF document includes topics such as: the risks and benefits of the research project, use of data, and participant privacy.

Signing the ICF is the necessary first step to enroll in a study or registry, including SanfilippoLINK. This indicates that the participant understands the information that has been provided and agrees to participate in the study as described.

Participants may stop participating in SanfilippoLINK at any time. If a participant decides to stop participating in the study, the information and samples that have already been used in research projects are not able to be recalled or destroyed. However, if requested, no future use of the participant’s information or samples will be permitted.

An Institutional Review Board (IRB) is an independent board formally designated to review, approve, and conduct periodic review and ongoing oversight of research involving people. The primary role of an IRB is to assure the protection of the rights, safety, privacy and welfare of research study participants. An IRB may also be referred to as an Ethics Committee (EC) or Research Ethics Board (REB in Canada). For SanfilippoLINK, the NorthStar IRB provides ethical research oversight for the study.

The SanfilippoLINK Advisory Committee, made up of scientific, clinical and patient advocate experts, oversee and provide advice about SanfilippoLINK. The Committee is also responsible for reviewing requests from qualified researchers who wish to communicate with participants about a research study opportunity, to conduct research project within the SanfilippoLINK platform, and/or to access data or biosamples from SanfilippoLINK.

The Advisory Committee ensures that the proposed project has scientific merit, is valuable to the community, and provides research data in a way that protects patient privacy. If any problems or breaches of privacy are reported, the Committee will make sure they are appropriately reported and resolved.

This study is open to anyone anywhere in the world who has a confirmed diagnosis of Sanfilippo syndrome (all subtypes), is biologically related to someone with this diagnosis, or who is a caregiver and/or authorized representative of someone with Sanfilippo, and meets the study inclusion criteria for participation. A representative may also participate on behalf of someone with Sanfilippo syndrome who is deceased.

There is no cost to participate in SanfilippoLINK.

There is no payment to participants for taking part in the SanfilippoLINK research study.

It may be possible that, in some instances, and for specific projects, you may be compensated for your time. In this case you will be notified and you will have the choice of whether or not to accept compensation.

The SanfilippoLINK study is designed as an ongoing longitudinal research initiative and does not have a predefined end date. Participants will be asked to update their information in the SanfilippoLINK Portal at least annually, and more often as new research surveys and opportunities are offered.

The SanfilippoLINK Portal uses an online platform which allows participants to contribute data from anywhere in the world where there is internet access.

Data in the SanfilippoLINK Portal, hosted by Matrix, is maintained on servers that are physically present in the United States of America. Matrix employs a battery of security and access controls to protect sensitive information including secure login, role-based access controls, session timeouts, encryption and secure servers. Matrix, which hosts SanfilippoLINK, is fully aligned with major compliance requirements to protect patient information including adherence to HIPAA Privacy and Security Rules (45 CFR Parts 160 and 164), features to ensure GDPR compliance, and providing Data Processing Agreements (DPAs). In addition, Matrix supports the requirements of 21 CFR Part 11, including audit trails, system validation, electronic signatures, and strong access controls. Every year, Matrix undergoes third-party security audits to verify that its safeguards remain effective and up to date.

Access to all data, including protected health information (PHI), is role-based and only permitted for essential functions of the SanfilippoLINK study by trained staff in alignment with Good Clinical Practice, HIPAA and privacy standards. Access by Matrix professional staff supporting informational technology platform maintenance is also bound by these strict privacy standards and regulations.

For individuals living outside the United States who choose to share information about themselves or their loved one(s) who have been diagnosed with Sanfilippo syndrome, the same protections for privacy and confidentiality are offered as in the United States.

Residents of the European Union and Switzerland have additional rights related to personal information, detailed within the study informed consent document. Privacy laws in an individual’s country may have different protections than those provided in the United States.

SanfilippoLINK participants who are residents of the European Union and Switzerland are entitled to protections as outlined in GDPR regulation.

Informational technology systems are maintained by Matrix who hosts the SanfilippoLINK Portal on its web-based application. Matrix provides ongoing technical support of the system. SanfilippoLINK authorized staff provide the day-to-day management of the Portal and participant support.