Team Sanfilippo Collaborative: Towards a therapy for MPSIII through a research-family partnership.
Rare diseases, including lysosomal diseases, typically receive less attention in both basic research and therapy development than common disorders. Team Sanfilippo is a research collaborative initiated by a group of family-based foundations to accelerate therapy development for Sanfilippo Syndrome (Mucopolysaccharidoses III). This effort is conceived as a research collaborative consisting of scientists at academic, industrial and government institutions conducting basic, translational and clinical research on MPSIII disease. The specific objective for which the families anticipate providing funding is to develop, within a three-year period, a potential therapy that can be tested clinically to prevent or significantly delay the onset and progress of clinical neurological disease in MPSIII patients. The envisaged Collaborative will conduct regular teleconferences to share and discuss research findings and set objectives. The parent-funders will conduct regular calls as well, and the entire group will meet in person at least annually. Each of the scientists in the Collaborative will bring unique expertise which fosters collaboration between the laboratories and enhances research efforts towards the common goal of developing treatments for MPSIII disease. The research will be focused on three areas necessary for identifying potential therapies suitable for clinical trials: High throughput screening for drug identification, animal models for drug testing, and biomarker identification.
Accomplishments to date include the identification and retention of a Project Manager with extensive pharmaceutical industry experience who has been successfully working on a similar collaborative project involving another lysosomal storage disease (Niemann Pick Type C). As a first step in forwarding the objectives of Team Sanfilippo, a scientific meeting has been held to review the status of research and development related to MPSIII disease. Attending this meeting was a group of more than a dozen leading scientists from academic, government (including the FDA and NIH), and industrial institutions willing to share their knowledge and willingness to help formulate a strategic plan for achieving the Team Sanfilippo objectives research.