For Researchers

You are key to unlocking a better future.

Thank you for being on the frontline to finding a treatment or cure for Sanfilippo Syndrome.

We believe it will likely take a combination of complementary treatments to truly create the life-long functional “cure” for Sanfilippo Syndrome that we all hope for. This may mean that several different treatment strategies over the course of a child’s lifetime. That is the reason we fund extensive research in a variety of research areas.

Additionally, we spearhead and/or support initiatives that create valuable disease-specific scientific models, physician education to enable earlier diagnosis, real-world data collection, and patient-preference studies. When researchers design studies with the patient perspective in mind, the drug development path is made more efficient and more meaningful.

Sanfilippo Research & Funding

Global Roadmap For Sanfilippo Syndrome Therapies

The Roadmap celebrates the significant advances that have been made to date in Sanfilippo research, as well as the clinical trials which are providing many families with opportunities for treatment and hope for the future. It aims to facilitate acceleration of effective therapies by setting out key research pillars and enablers around which the research community can coalesce.

Current Funding Opportunities

Learn more about opportunities for funding from Cure Sanfilippo Foundation.

Research We Have Funded

See the list of research grants the Foundation has funded.

Current Global Research on Sanfilippo Syndrome

Review the research avenues being investigated to find a treatment or cure for Sanfilippo Syndrome.

Sanfilippo Conference

ADVANCE, a Sanfilippo Community Conference, is an annual virtual that brings together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters from around the world. All to engage and advance the work to help children with Sanfilippo Syndrome.

Sanfilippo Literature References

A selection of published medical literature on Mucopolysaccharidosis Type III (MPS III, commonly known as Sanfilippo Syndrome)

Get in Touch With Us

Interested in Receiving Information & Updates?

Would you like to receive information about Sanfilippo research, funding opportunities, and more from the Foundation? Sign up to get updates from our scientific experts about important topics in Sanfilippo research.

Have Questions?

Do you have questions about funding opportunities from the Foundation, research regarding Sanfilippo, or collaborating with the Foundation? Please contact us via the form below. We look forward to hearing from you.

Resources for Researchers

Sanfilippo Literature References

Review published literature and references about Sanfilippo Syndrome.

Poster Presentations & Publications

The sharing of information will accelerate discovery of a cure for Sanfilippo, which is why we share as much information as possible through poster presentations and publications. We also urge the researchers we fund to do the same.

Caregiver Preference Study for Sanfilippo Syndrome

Cure Sanfilippo Foundation has published the first-ever Caregiver Preference Study for Sanfilippo Syndrome. It includes what caregivers consider “meaningful benefit,” as well functions as an exploratory staging tool.

Global Clinical Management Guidelines for Sanfilippo Syndrome

Cure Sanfilippo Foundation is leading the development the first-ever Global Clinical Guidelines for the management of Sanfilippo Syndrome, which are critical for patients and health care professionals in the management of rare diseases. The lack of experience and knowledge about a condition often causes late diagnosis and less than optimal management of the condition.

Analysis of the Caregiver Burden Associated with Sanfilippo Syndrome

A group of international clinical advisors with expertise in the care of pediatric patients with Sanfilippo and lysosomal storage disorders met to begin filling this void of understanding and create best-practice guidance for clinicians.

International Mice Registry

The International Mouse Strain Resource (IMSR) is a searchable online database of mouse strains, stocks, and mutant ES cell lines available worldwide, including inbred, mutant, and genetically engineered strains.

Discussion of Ethical Issues in Pediatric Gene Therapy Clinical Trials

A January 2021 article on explores ethical issues surrounding research in genetic interventions for pediatric population. It specifically addresses the risks and benefits of pediatric gene therapy research, equity issues, ethical challenges of immunogenicity and toxicity, the experiences of patients and their families, and operationalizing informed consent.

Milken Institute White Papers – Advancing Models of Patient Engagement: Patient Organizations As Research and Data Partners

White Paper #1. “Making the Case” for partnership with patient organizations and the inclusion of patient-generated health data in the new era of data-driven research;

White Paper #2. “For Patient Organizations” aims to provide tools and guidance to help patient organizations improve their capacity as research and data partners; and

White Paper #3. “For Researchers” informs those conducting data-driven research about the specific capabilities patient organizations can bring and how to effectively partner with them.

FDA “Patients Matter” Video Series

The “Patients Matter” Video Series is a series of short videos developed by FDA’s Patient Affairs Staff to teach patients and other stakeholders about FDA and patient engagement efforts.