A Toronto family’s harrowing journey to find a cure for their son’s ultra-rare disease has reached a new milestone.
After more than three years of intense fundraising and equally painstaking work to develop a potential cure, four-year-old Michael Pirovolakis recently became the first person in the world to receive individual gene therapy for spastic paraplegia type 50. , SPG50 for short.
This complex neurogenerative condition is caused by a missing protein in the brain and results in severe developmental delays, progressive weakness and stiffness of the legs, and paralysis by the age of 10 years.
Approximately 80 children worldwide have SPG50. However, Michael is believed to be the only one with the disease in Canada.
The Pirovolakis family, who live in East York, learned that Michael had SPG50 when he was just over a year old.
Determined to help their son, Terry and Georgia Pirovolakis immediately went to work to raise more than the $3 million needed to pay for the experimental treatment that could slow the progression of their son’s disease and perhaps even cure it.
Navigating the complexities of creating a cure for an ultra-rare disease, especially during a global pandemic, was no easy task, Terry Pirovolakis admitted.
“It’s been quite a long journey with a lot of ups and downs and then delays with COVID,” he said.
“We are very grateful for our team. For every setback we always had a plan to move forward. We always hoped that everything would stay on track.”
In December 2020, researchers created a prototype for the treatment and successfully tested it on animals in a laboratory.
Just over a year later, on December 30, 2021, Health Canada approved the first human clinical trial of SPG50. The new gene therapy was injected into Michael’s spinal canal at Toronto’s Hospital for Sick Children on March 24.
Dr. Jim Dowling, a staff physician in the SickKids Division of Neurology and a senior scientist in the hospital’s Genetics and Genome Biology program, led the effort to diagnose exactly what type of rare disease Michael has. He was also the lead physician in the recent Toronto East Child clinical trial.
Speaking to CP24 on Monday afternoon, Dowling said that he and his team at SickKids worked closely with the Pirovolakis family to discuss their options once they knew what they were up against; , or cure the progressive effects of Michael’s disease.
“It’s an incredible feat what Terry, Georgia and the SPG50 Foundation accomplished,” he said, pointing to all the work it took to get to this point.
“We are optimistic about this first hurdle and are monitoring how Michael’s body accepts this gene therapy. We are not yet sure how long it will be before the new nerve cells function properly.”
Dowling said he is confident that developing treatment options for other types of rare diseases will become easier and more affordable as genome-level sequencing continues to improve.
He also noted that the learnings and best practices from the work that went into creating SPG50 gene therapy are valuable to SickKids as the hospital works to find ways to remove barriers to finding a cure for countless other ultra-rare diseases. .
“Our last hope is to be able to provide this kind of individual care to all children with rare diseases,” he said.
“(SPG50 gene therapy) is the beginning. … There are so many people in our new PCH group who are willing to work on something that hasn’t been done before.”
Pirovolakis said it’s about giving Michael and other people with ultra-rare diseases a “better life.”
Dr. David Malkin, CIBC Children’s Foundation chair of children’s health research at SickKids, agreed.
“Successfully conducting the trial for Michael was not only a key milestone for him and his family, but also in achieving Precision Child Health’s SickKids vision, a movement to provide individualized care for each patient,” he said in a statement.
“Not only can rare diseases be a springboard to discover how to treat more common conditions, but the learnings from Michael’s trial will help pave a path for SickKids to explore innovative, precision-based treatment options for other patients with genetic diseases. rare. ”
Almost five months later, Michael is doing well.
SickKids says there are “some indications that his symptoms may be improving” and that he will continue to be monitored over time “to see if the therapy effectively slows the progression of his disease and potentially reverses some of its impacts.”
Throughout this process, the Pirovolakis always kept in mind that their search for a cure for SPG50 was not just something they were doing for their own son.
“Our goal was always to help more than just Michael,” Pirovolakis said.
The company that made the gene therapy actually created an additional 10 doses, yet it costs $250,000 per patient for the team to administer and monitor their outcome over the next five years. Funds are now being raised and distributed through the charitable foundation the Pirovolakis created to help their son.
The plan is to start giving the therapy, which the FDA just approved for use in the United States on August 11, to two more SPG50 patients in Texas this fall and continue from there.
“We hope that people will once again open their wallets and their hearts to help us treat as many people as we can,” Pirovolakis said.