​Principal Investigator: Drs Jeremy Tanner and Megan Iammarino

Disease: Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Research Description: Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) is an ultra-rare and severe neurodevelopmental disease that begins in infancy and is associated with high early-childhood mortality with no known treatments. Artificial Intelligence (AI) modelling techniques and drug screening identified aprepitant, a medication approved to curb nausea in cancer patients, as a potential CLIFAHDD therapy, supported by additional preclinical research. This Phase I/IIA open label trial is testing the safety and exploring early signs of symptom improvement in individuals with CLIFAHDD. If successful, this trial could point to the first potential therapy for children with this devastating disease and demonstrate a new approach for identifying and testing therapies for other ultra-rare diseases.

Funding Partners: Lyda Hill Philanthropies, Biohub

Initial CWR Funding Role: Primary