The clinical milestone followed a grueling effort by the Riaan Research Initiative, an organization founded in 2021 by Jo Kaur and Richard Digeorge shortly after their son’s diagnosis. With no FDA-approved treatments for the neurodegenerative disorder, which typically limits life expectancy to roughly seven years, the family raised $4 million to move the project from concept to the clinic. The initiative coordinated every phase, from preclinical studies at UMass Chan Medical School to GMP manufacturing and regulatory filings.

Surgeon-in-chief Dr. Mark Souweidane administered the AAV9 gene therapy, which targets the brain to deliver a functional copy of the ERCC8/CSA transgene. The treatment was backed by promising mouse studies that showed an 8.5-fold increase in lifespan. While the therapy is still in its early stages, Kaur reported that Riaan remains resilient, showing his characteristic energy just days after the neurosurgery. The team behind the project now aims to expand access to other children facing the same diagnosis, challenging conventional drug development timelines for ultra-rare conditions.