Health
Gene therapy halts progression of rare neurodegenerative disease in Toronto boy
Results from a single-patient gene therapy trial at SickKids are showing promise in halting the progression of a 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 condition.
Approximately 80 million children worldwide are affected by this genetic disorder.
“Michael was diagnosed on April 2, 2019,” said Michael's father, Terry Pirovolakis. “A month later I was in Washington meeting with experts from around the world. Three days later we had spent all our life savings. A year and a half after that we began safety studies. Two years later we had a drug and just under three years later Michael received his gene therapy at SickKids.”
The family raised $4.5 million and worked with scientists in Dallas, Texas, to develop a gene therapy to slow the progression of Michael's disease.
SickKids' clinical research team administered the gene therapy to Michael in March 2022.
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“We didn't know if it was going to kill him, make him better or something in between,” Pilovolakis said.
“It was the scariest and happiest day because we worked so hard and the community came together and helped make it happen,” he added.
SickKids had never previously conducted a gene therapy clinical trial on a single patient.
“The two primary outcomes we monitored in this trial were safety and efficacy or potency,” said Jim Dowling, PhD, an attending physician in the Department of Neurology at SickKids Hospital and senior scientist in the Genetics and Genome Biology Program.
“I think it's really encouraging that this medication is helping to halt the progression of the disease, which is really big, because this disease ultimately progresses by losing meaningful use of an arm or a leg and continuing to experience cognitive decline. He's not experiencing either of those,” Dowling said.
Twelve months into treatment, contrary to the hallmarks of neurodegenerative diseases, Michael's condition does not appear to be progressing any further and he is beginning to show signs of improvement.
“He went from standing on his tiptoes to standing on flat feet…he hugged and kissed his wife and got to choose what he wanted to wear and what he wanted to eat,” Pilovolakis said.
The results of the study have now been published in the journal Nature Medicine.
“This is one of the first examples of an incredible person like Michael being motivated to develop a treatment that actually got to him, something that was able to help him. I think this really provides incredible hope for the thousands of patients with rare diseases that are diagnosed across the country every year,” Dowling said.
Pirovolakis said he sees hope in gene therapy for patients with rare genetic diseases like his son.
“Every week I get calls from families all over the world saying, 'Please help their children,'” he said. “I quit my job and started a biotech and pharmaceutical company in California. We now have five employees and 20 consultants.”
The family established the CureSPG50 Foundation, GoFundMe campaign, Because I wanted to help other kids.
“In many cases, there is something that can be done. We can create a cure. And if you're an advocate and you work hard, you can do what people say is impossible. You can create a cure.”
© 2024 Global News, a division of Corus Entertainment Inc.
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