A Toronto boy received encouraging results from a clinical trial that helped him halt the progression of a rare disease.
Michael Pirovalakis has spastic paraplegia type 50 (SPG50), an “extremely rare” neurodegenerative disease that causes developmental delays, speech problems, seizures and progressive paralysis.
When he was diagnosed in March 2019, the boy’s family sacrificed their savings to help him.
“A month later, I met all the world experts in Washington. Three days later, we’ve cleared our life savings. A year and a half later, we started safety inspections. The drug was developed two years later, and within three years, Michael was treated with gene therapy at SickKids,” said father Terry Pirovalakis.
The family raised nearly $4.5 million and worked with scientists in Dallas, Texas to develop a gene therapy for Michael.
“It’s a very scary and happy day because we’ve worked so hard and our community has come together to help us and make this possible,” he said.
“We don’t know if it’s going to kill him, make him feel better, or something in between,” Mr.
At 12 months into treatment, Michael’s condition had not worsened and was beginning to show possible signs of improvement.
“He goes from standing on his bent toes to standing with flat feet. He kisses me and kisses my wife. He chooses the clothes he wants to wear, the food he wants to eat,” Mr. Provolakis said.
This is the first time that SickKids Hospital for Sick Children has conducted a single-patient gene therapy clinical trial.
About 80 children worldwide are affected by the disease and Michael may be the only one in Canada.
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