Meeting summary now available to download
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.
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 datasets 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. The setting for this highly-focused session provided participants the opportunity to continue discussions and follow-up throughout the week.
To learn more about this initiative, key takeaways from the discussion, and next steps, download the complete meeting summary.
Next Steps of Data-Sharing Initiative
- Cure Sanfilippo Foundation will leverage the ideas and enthusiasm generated by the meeting to forge a collaborative effort aimed at promoting and facilitating data sharing.
- Collaborators will continue efforts to inventory and characterize the components of existing datasets in order to generate focused and achievable research analyses for high-priority questions.
- Inform and share among stakeholders the best practices to incorporate broader data-sharing language into informed consent documents.
- This effort to accelerate research and advance therapeutic development will be driven by science and inspired by the urgent unmet need of affected children and their families.