Pilot Feasibility Core

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Abstract CMT affects 1/2500 people and there are no proven treatments that modify the disease. Clinical and basic research in inherited peripheral neuropathies is expanding rapidly on many fronts. Next generation sequencing enables the identification of novel genetic causes such that > 90 genes causing CMT neuropathy have now been identified, many by sites within the INC. Rational therapeutic approaches for the most common subtypes of CMT are being actively pursued or have even already developed. The INC needs to rapidly respond to new opportunities and needs that result from novel discoveries in fields such as genetic diagnosis, gene editing, cell biology, or outcome measures in CMT. To this end we propose a Pilot/Feasibility Core to support single- or multi-site projects that will advance the diagnosis, clinical trial readiness, management, and/or treatment of CMT subtypes. Approved projects will typically be approved for a single year, with a budget of $25,000 to $50,000. Funds will be available to support two Pilot/Feasibility projects per year. Junior INC investigators and senior investigators wishing to expand their research in new directions will be encouraged to apply. Evaluating Pilot/Feasibility applications and monitoring the projects will be the responsibility of the Pilot/Feasibility Core, which will be directed by Dr. Mario Saporta (the site-PI of the clinical University of Miami site and Dr. Alex Rossor (from our UCL site). They were the first two scholar/trainees of the INC 10 years ago, and are now recognized as independent investigators in our field. Core membership includes expertise in COAs, genetic diagnosis, and therapeutic development. Members include the INC leadership - Drs. Shy, Scherer, Herrmann, Reilly, Züchner, and Burns, as well as Drs. Finkel (an expert in neuromuscular trials) and Svaren (a member of our External Advisory Committee, and an expert in biomarker development) and representatives from two PAGS, Amy Gray (CMTA) and Dr. Amanda Haidet-Phillips (MDA).