WATCH: There are encouraging findings from a gene therapy trial at SickKids Hospital in Toronto. Caryn Lieberman reports on a young boy with an ultra-rare disease who received the treatment and is showing potential signs of improvement.The findings from a single-patient gene therapy trial at The Hospital for Sick Children show promise in halting the progression of a young Toronto boy’s rare disease.
“It was the scariest day and happiest day because we worked so hard and our community came together to help us make that happen,” he added.“The two major outcomes that we monitored in the trial were safety and then effectiveness or efficacy,” said Dr. Jim Dowling, staff physician in the Division of Neurology and Senior Scientist in the Genetics & Genome Biology program at SickKids.
In the 12 months after receiving the treatment, and contrary to the hallmark of neurodegenerative conditions, Michael’s condition does not seem to be progressing further and he has begun to show potential signs of improvement.“He went from standing on his tippy toes to standing flatfooted … he hugs and kisses my wife, he chooses the clothes he wants to wear, the food he wants to eat,” said Pirovolakis.