TS-000596 — Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease and the leading genetic cause of infant mortality. Moreover, existing treatments suffer from notable floor and ceiling effects and also poorly discriminate improved motor performance in patients. To circumvent these challenges, researchers at Nationwide children’s have developed the Neuromuscular Gross Motor Outcome (GRO) worksheet. The GRO worksheet is a gross motor outcome measure designed to assess whole body strength, motor development and function for all levels of ability across the lifespan in those diagnosed with SMA. Hence, the GRO worksheet is the ideal outcome measure tool for SMA or similar conditions to answer the need to quantity gross motor ability across a wide age span.

TS-000193 — SMA currently has no treatment and is the result of an mRNA splicing defect which we have found can be corrected with heat shock. We propose using increased temperature, small molecule activators of heat shock response, or other mechanisms for inducing the heat shock response for treatment of SMA.