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

Riaan Singh Digeorge, age 6, of New York City, received an experimental AAV9 gene therapy for Cockayne syndrome following a historic parent-led drug development effort by Riaan Research Initiative.

NEW YORK, June 22, 2026 /PRNewswire/ -- Riaan Research Initiative (RRI), a rare disease patient advocacy organization based in New York City, announced that 6-year-old Riaan Singh Digeorge, a Queens resident, has become the first patient to receive an experimental gene therapy for Cockayne syndrome, a devastating genetic disorder that causes premature aging and early death. Riaan received the treatment at NewYork-Presbyterian Komansky Children's Hospital of Children's Hospital of New York on April 21, 2026, via a neurosurgical procedure performed by surgeon-in-chief Dr. Mark Souweidane.

This groundbreaking milestone reflects the critical role of parent-led efforts to develop treatments for pediatric rare diseases when traditional pathways remain limited. It is the product of an intense, nearly five-year effort by Riaan's parents, Jo Kaur and Richard Digeorge, who founded RRI in June 2021 shortly after their son was diagnosed, and the dedication of the Cockayne syndrome community. The organization raised nearly $4 million, helped move the program from concept to clinic, and built partnerships with leading academic institutions, scientists, clinicians, and regulatory experts. RRI collaborated on and fully funded every step, including preclinical studies at UMass Chan Medical School, toxicology studies at Charles River Laboratories, GMP manufacturing at Andelyn Biosciences, Investigational New Drug ("IND") – enabling studies, submission, and regulatory review, and finally the first-in-human clinical administration at NewYork-Presbyterian Komansky Children's Hospital of Children's Hospital of New York in collaboration with Weill Cornell Medicine.

"We are blown away by Riaan's superhuman resilience and good nature. He was laughing and playing balloon volleyball in PICU the day after neurosurgery," said Kaur, founder of RRI and Riaan's mother. "It has been two months since treatment, and while it obviously hasn't been easy, Riaan's smile and zest for life carry us all forward. Each day brings excitement and possibility."

Cockayne syndrome is a severe DNA repair and transcription disorder with no FDA-approved treatments. It causes significant brain atrophy, growth failure, vision/hearing loss, developmental disabilities and early death. Children who are more severely impacted, like Riaan, have a life expectancy of 5 to 7 years. The disease is estimated to affect approximately 1-3 per one million people and is one of many ultra-rare conditions where urgent patient needs often remain unmet under conventional drug development models.

The novel gene therapy used an adeno-associated viral vector, AAV9, to deliver a functional copy of the ERCC8/CSA transgene directly to the brain. Following promising results in mice treated with the gene therapy, including a lifespan increase of 8.5-fold, the FDA cleared the IND application sponsored by UMass Chan. Miguel Sena-Esteves, PhD, associate professor of neurology and genetic & cellular medicine at UMass Chan Medical School and director of the Translational Institute for Molecular Therapeutics, served as sponsor representative.

"Richie and I never imagined that our parenting journey would lead us to become drug developers, and we are grateful for the scientists and clinicians who helped us bring this treatment to our son," continued Kaur. "It was not easy knowing he would be the first child in the world to receive the gene therapy. We were full of dueling emotions. But for hope, we took that leap. For love, we accepted the challenge. We are hopeful to expand to other children who are also awaiting treatment."

About Riaan Research Initiative

Riaan Research Initiative, headed by Jo Kaur, is a rare disease patient advocacy organization dedicated to accelerating the development of treatments for Cockayne syndrome, including gene therapy and drug repurposing programs. Subscribe to the organization's blog to follow updates here, and watch the historic gene therapy announcement video here.

SOURCE Riaan Research Initiative