IRF2BPL gene replacement therapy

IRF2BPL gene replacement therapy is an investigational gene therapy developed to treat Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS), an ultra-rare neurodegenerative disorder caused by mutations in the IRF2BPL gene. The therapy utilizes an adeno-associated virus serotype 9 (AAV9) vector to deliver a functional copy of the IRF2BPL gene, which is designed to cross the blood-brain barrier and restore the production of functional IRF2BPL protein in the brain. It was developed through a collaboration between Elly's Team, Alcyone Therapeutics, and the RTW Foundation, with manufacturing by Andelyn Biosciences. The FDA cleared the Investigational New Drug (IND) application in March 2025, and the first patient was treated in April 2025.

Other names

IRF2BPL gene therapyIRF-2BPL gene therapyIRF 2BPL gene therapy