Michael, 4, is the only child in Canada diagnosed with Spastic Paraplegia 50 (SPG50), a slowly progressive neurodegenerative disorder that generally presents with global developmental delay leading to cognitive impairment and eventual paralysis. Last March, doctors at the Hospital for Sick Children in Toronto injected a normal version of the missing gene into Michaels’ spinal fluid to transfer to his brain. The single-dose treatment is part of a pioneering clinical trial where Michael is the only participant. And already, Georgia and Terry Pyrovolakis, Michael’s parents, say they see some signs of hope. Georgia says goodbye to Michael before surgery at the Hospital for Sick Children in Toronto in March. (The Hospital for Sick Children) “You know, we’re cautiously optimistic, shall we say, we’re seeing some improvements,” Georgia said. “Pointing or playing with his toys, you know, grabbing a truck and actually pushing it, he’s doing all these things he’s never done before.” “Hopefully, you know, he becomes normal, obviously a normal boy, you know, living his life being able to communicate, walk, whatever. tell us what he wants, I think it would be a huge win for us.”
The first single, individual clinical trial
When Georgia and Terry were told in 2019 that their 18-month-old son might never walk or talk, they said they were devastated. They were also determined to find a potential cure where none existed. Through a GoFundMe page and community fundraisers, they have raised more than $3 million in donations to fund the development of a specialized gene therapy that could replace the mutated or missing gene that causes Michael’s condition. With the help of scientists around the world, a prototype was developed and once the treatment had been successfully tested in animal models in the laboratory, it was ready to be given to Michael. “In gene therapy, that’s really the strategy,” said Dr. Jim Dowling, a staff physician in the department of neurology and senior scientist in the Genetics & Genome Biology program at the Hospital for Sick Children, who led Michael’s clinical trial. the doctor who first diagnosed him. “We believe this is one of the first times that someone has taken the gene therapy strategy and done a single clinical trial, so we’re very excited about the results for Michael for this trial, but also what it could mean for other children with rare diseases,” he said. The neuroradiologist Dr. Manohar Shroff during Michael’s surgery at the Hospital for Sick Children. (The Toronto Hospital for Sick Children) The hope is that the treatment will halt the progression of the disease and perhaps even reverse some degeneration that has already occurred, he explained, adding that improvements in Michael’s cognitive and motor skills should become apparent in the coming months. The Children’s Hospital will monitor his progress for the next five years. “Obviously the hope is that it will reverse some of the problems that have already occurred and allow it to have functions that it didn’t have before,” Dowling said.
The treatment could help others with rare conditions
And, beyond helping Michael, the treatment developed to treat him has the potential to help thousands of other children with rare conditions. Doctors involved in the trial said they hope the lessons learned here could be developed to help in these cases as well. “As a physician, this gives me hope that the future is brighter, hopefully for him and certainly for many children for many generations,” said Dr. David Malkin, chief of Precision Children’s Health at the Hospital for Sick Children. “The lessons learned from Michael’s trial will help pave the way for SickKids to explore innovative, precision-based treatment options for other patients with rare, genetic diseases.” Michael’s gene therapy received FDA approval on Thursday of last week, and his family plans to continue raising money to help fund a clinical trial for other children through a foundation they set up to help Michael. These trials could begin as early as October. Georgia, Michael and Terry Pyrovolakis are pictured after Michael’s physical therapy session in Toronto on August 11, 2022. (Ousama Farag/CBC) That momentum is something the Pyrovolakis say they hope will inspire other families to keep fighting for their own children, even when the path forward looks bleak. “That’s the kind of hope that I think we need to give people out there and show that, you know, if you work hard enough, raise enough money and have amazing people supporting you, you can do this,” he said. Type of cloth. “It’s not easy, you have to work as hard as you’ve ever worked in your life, but you can do this.”
