New York Presbyterian Hospital \ Weill Cornell University Medical Center

First Patient in the World Treated With Gene Therapy for Cockayne Syndrome

- Riaan Singh Digeorge, age 6, became the first patient worldwide to receive an experimental AAV9 gene therapy for Cockayne syndrome on April 21, 2026, at NewYork-Presbyterian Komansky Children's Hospital. - The treatment was the culmination of a nearly five-year, parent-led effort by Riaan Research Initiative, which raised nearly $4 million and fully funded every step from preclinical studies to clinical administration. - Cockayne syndrome is a severe DNA repair disorder with no FDA-approved treatments, causing brain atrophy, growth failure, and early death, with severely affected children having a life expectancy of 5 to 7 years. - The gene therapy delivers a functional ERCC8/CSA transgene via AAV9 directly to the brain; preclinical studies in mice demonstrated an 8.5-fold lifespan increase, supporting the FDA's clearance of the IND application.