Rare Disease Gene TherapyConfirmed
First Patient Treated With Gene Therapy for Cockayne Syndrome
Riaan Singh Digeorge received an experimental AAV9 gene therapy after a parent-led rare-disease development effort raised millions and reached an FDA-cleared IND.
Why now
A parent-led effort moved an ultra-rare disease from no approved treatment to first-in-human dosing, making the development story as important as the science.
- Overclaim risk
- high
- Primary source
- Official
- Published
- Jun 27, 2026