June 22, 2026 —
Riaan Research Initiative announced that Riaan Singh Digeorge, a six-year-old child from New York City, has become the first patient to receive an experimental AAV9 gene therapy for Cockayne syndrome, a devastating ultra-rare genetic disorder associated with premature aging and early death.
The treatment was administered at NewYork-Presbyterian Komansky Children’s Hospital on April 21, 2026, through a neurosurgical procedure performed by Dr. Mark Souweidane. The milestone reflects an unusual and highly focused parent-led drug development effort initiated by Riaan’s parents, Jo Kaur and Richard Digeorge, after their son was diagnosed.
Cockayne syndrome is a severe DNA repair and transcription disorder with no FDA-approved treatments. The condition can cause brain atrophy, growth failure, vision and hearing loss, developmental impairment, and early death. Children with more severe forms of the disease may have a life expectancy of only five to seven years.
The experimental therapy uses an adeno-associated viral vector, AAV9, to deliver a functional copy of the ERCC8/CSA transgene directly to the brain. ERCC8, also known as CSA, is one of the genes associated with Cockayne syndrome. By delivering a functional copy of the gene, the therapy is intended to address the underlying genetic defect that contributes to disease progression.
The program advanced after promising preclinical results in mice, where treatment with the gene therapy reportedly increased lifespan by 8.5-fold. Following investigational new drug-enabling work and regulatory review, the FDA cleared the IND application sponsored by UMass Chan Medical School, enabling first-in-human treatment.
Riaan Research Initiative, founded in 2021, helped move the program from concept to clinical administration through fundraising, scientific coordination, and collaboration with academic researchers, clinicians, regulatory experts, and the Cockayne syndrome community. The organization raised nearly $4 million to support the development effort.
Two months after treatment, Riaan’s family reported that he was recovering with resilience and maintaining his positive spirit. Long-term follow-up will be essential to evaluate safety, durability, and potential clinical benefit.
The case highlights both the promise and complexity of developing genetic medicines for ultra-rare pediatric diseases. For conditions with extremely small patient populations and limited commercial pathways, parent-led organizations are increasingly playing a central role in accelerating translational research, coordinating expert teams, and creating possible treatment paths where none previously existed.
While this first-in-human treatment remains experimental, it represents an important milestone for Cockayne syndrome and for broader efforts to develop individualized and community-driven gene therapies for devastating rare diseases.
