Increased efficiency in drug development is urgently needed for Sanfilippo syndrome
Sanfilippo syndrome is an ultra-rare, neurometabolic disease which leads to severe neurodegeneration and multisystemic impacts for those affected. Individual heterogeneity, the protracted timespan of disease evolution across body systems, limitations of currently-available clinical outcome measures in symptomatically-impaired patients, near inability to identify pre-symptomatic patients due to lack of newborn screening, and the small, geographically-dispersed patient population are some of the barriers faced in the development of urgently-needed treatments. To date, there are no approved therapies for any of the four subtypes of Sanfilippo syndrome (Types A, B, C, or D).
Finding ways to increase the power of our learnings through utilization of existing datasets has been proposed as a useful strategy in the rare disease space and specifically the Sanfilippo community over the past several years. Patients and their families who participate in research studies are overwhelmingly supportive of data sharing and expect that the sacrifices they make to participate in clinical studies will contribute to a greater common good. However, by and large, existing Sanfilippo datasets remain in silos, limiting our ability to effectively and efficiently build upon those learnings. With increasing interest in broader collaborations, we recognized that this is an opportune time to address this gap and to convene stakeholders around this topic.
Recognizing that gaining access to existing datasets may help address some of the community’s challenges in drug development, Cure Sanfilippo Foundation, launched the Leveraging Data to Advance Sanfilippo Syndrome Therapeutic Development in 2023. Since then, the Foundation has created significant momentum around data sharing through quarterly full group meetings and more frequent workstream meetings comprising 75 stakeholders in total across academia, pharmaceutical companies, regulators, and patient advocacy groups.
Updates
2026
A poster on the Leveraging Sanfilippo Data Collaborative was presented at the WORLDSymposium 2026, Feb. 2-6, 2026, in in San Diego, California. Download and view a PDF of the poster.
2024
Four workstreams spent the year helping provide tangible efforts to move the initiative forward. The workstreams were focused on exploring essential data sharing topics, generating a list of top research questions that existing clinical study data could help answer, development a comprehensive inventory of data elements and outcome measures utilized in clinical studies thus far, and development a draft template for standard data sharing language to be incorporated into informed consent forms for upcoming studies. Read the meeting summary.
2023
Cure Sanfilippo Foundation hosted 30 leaders representing academia, biopharmaceutical companies, and patient advocacy organizations in a first-of-its-kind discussion to address the challenges, needs, and goals of sharing of existing data sets to further the development of therapies for Sanfilippo syndrome, also known as mucopolysaccharidosis type III or MPS III. The meeting was held Feb. 23, 2023, from 10:00 a.m. – 1:00 p.m., in Orlando, Florida, as a prelude to the 2023 WORLDSymposium, a scientific meeting attracting nearly 3,000 participants from across the globe to share research updates on lysosomal diseases. Read the meeting summary.