Gene therapy halts progression of rare neurodegenerative disease in Toronto boy [Video]

The findings from a single-patient gene therapy trial at The Hospital for Sick Children (SickKids) show promise in halting the progression of a young Toronto boy’s rare disease.

Michael Pirovolakis has spastic paraplegia type 50 (SPG50), an “ultra-rare” neurodegenerative disorder that causes developmental delays, speech impairment, seizures and progressive paralysis. He is believed to be the only child in Canada with the disease.

There are approximately 80 children around the world affected by the genetic condition.

“Michael was diagnosed April 2, 2019,” said Michael’s father, Terry Pirovolakis. “A month later, I was in Washington meeting with all the world experts. Three days later, we had liquidated our life savings. A year and a half after that, we started safety studies. We then made the drug two years in and just under three years, Michael was treated with the gene therapy at SickKids.”

The family raised $4.5 million and worked with …