Michael Pirovolakis’ physiotherapist, Stephanie So, right, checks his legs as Michael plays with his mother, Georgia Kumaritakis, at Ms. So’s clinic in Toronto on March 1.A gene therapy made specially for a Toronto boy with an ultrarare genetic disorder is safe and appears to have halted the progression of his disease, according to aWhen Michael Pirovolakis, now 6, was diagnosed with spastic paraplegia type 50 at 16 months of age, he was the only patient in Canada known to have the disorder.
In March of 2022, Michael received the experimental therapy through a one-time injection in his spine at Toronto’s Hospital for Sick Children as part of a Phase 1 clinical trial in which he was the only participant – a first for SickKids. The degree of benefit is clear to Michael’s parents, and is described in the paper, but so is the reality that fixing Michael’s underlying genetic defect can’t undo the damage done to his brain before he was treated.His cognitive scores improved in the first year after gene therapy, as did his fine and gross motor skills, according to scales used to measure child development.
Dr. Dowling diagnosed Michael with SPG50 and is the lead author of the new paper. The second author is Mr. Pirovolakis, Michael’s father, who quit his job in finance to start the CureSPG50 Foundation and a non-profit pharmaceutical company dedicated to developing drugs for diseases too rare to attract research investment from traditional drug companies.