TS-002225 — Gene therapy researchers at Nationwide Children’s Hospital created an AAV medicated gene therapy for the treatment of neurological, neuromuscular and muscular disorders like SCN2A, Duchenne Muscular Dystrophy, Pitt Hopkins Syndrome, etc. Their therapy suggests using AAV gene therapy to deliver tRNA to read through premature stop codons caused by missense mutations preventing protein truncation. Multiple tRNAs will be inserted in an AAV construct to target multiple mutations. The therapy will effectively deliver genes of interest to the target cell types and can be adapted to other disorders through changing serotypes to switch targeted cell types.

TS-000470 — CuATSM is a small molecule which facilitates the delivery of copper to cells containing damaged mitochondria, the cell compartments responsible for the production of energy. Currently, CuATSM has shown success in clinical trials for treating patients with ALS. Neurodegenerative disease experts at Nationwide Children’s Hospital have elucidated novel mechanisms of action through which the small molecule can treat disorders caused by oxidative stress, mitochondrial dysfunction and elevation of stress response systems. Through these studies, our disease experts have identified several new indications which could be treated with this small molecule compound.