Gene Therapy Halts Progression of Rare Genetic Condition in Young Boy

The findings from SickKids’ first single-patient gene therapy trial show promise in halting the progression of SPG50. When Michael Pirovolakis received an individualized gene therapy in a single-patient clinical trial at The Hospital for Sick Children (SickKids) in March 2022, the course of his condition was dramatically altered.

Michael Pirovolakis, one year after gene therapy

Michael has spastic paraplegia type 50 (SPG50), an “ultra-rare” progressive neurodegenerative disorder that causes developmental delays, speech impairment, seizures, progressive paralysis of all four limbs, and is typically fatal by adulthood. Approximately 80 children around the world are affected by this genetic condition. In a bid to slow the progression of the condition, a clinical research team at SickKids administered a first single-patient gene therapy to Michael less than three years after his initial diagnosis. The ground-breaking clinical trial report, published June 28 in Nature Medicine, documents Michael’s journey in the 12 months following the procedure, along with the novel impact this trial holds for the future of genetic medicine in Canada. The open-access article is titled “AAV Gene Therapy for Hereditary Spastic Paraplegia Type 50: A Phase 1 Trial in a Single Patient.”

Login Or Register To Read Full Story