​Principal Investigator: Dr. Laura Lambert

Disease: DeSanto-Shinawi Syndrome

Research Description: DeSanto-Shinawi Syndrome (DESSH) is an ultra-rare, genetic condition caused by a mutation of the ‘WAC’ gene, reducing its functionality and leading to lifelong developmental, cognitive, behavioral and physical challenges. The only available treatments are for symptom management and currently don’t address the root cause of the disease. The research team used artificial intelligence (AI) modelling to identify that clonazepam, a generic drug widely used for treatment of seizures and panic disorder, could potentially increase WAC function. This single-arm, open label, decentralized trial is testing whether clonazepam improves WAC function and key patient outcomes. Positive results could lead to the first disease-modifying treatment for DESSH.

Funding Partners: Biohub and Lyda Hill Philanthropies

Initial CWR Funding Role: Supplemental