A little boy from Toronto received encouraging results from a clinical trial that helped stop the progression of the rare disease he suffers from.
Michael Pirovolakis has spastic paraplegia type 50 (SPG50), an “ultra-rare” neurodegenerative disease that causes developmental delays, speech problems, seizures and progressive paralysis.
When he was diagnosed in March 2019, the little boy’s family sacrificed their savings to try to help him.
“A month later, I was in Washington meeting all the world experts. Three days later, we had liquidated our life savings. A year and a half later, we started security studies. The drug was created two years later and in just under three years, Michael was treated with gene therapy at SickKids,” said father Terry Pirovolakis.
The family raised nearly $4.5 million and worked with scientists in Dallas, Texas, to create a gene therapy for Michael.
“It was the scariest and happiest day because we worked so hard and our community came together to help us and make this possible,” he said.
“We didn’t know if it was going to kill him, make him feel better, or something in between,” added Mr. Pirovolakis.
In the 12 months after receiving treatment, Michael’s condition did not appear to get worse and even began to show potential signs of improvement.
“He went from standing on his bent toes to standing flat-footed. He kisses me and kisses my wife. He chooses the clothes he wants to wear, the food he wants to eat,” Pirovolakis said.
This is the first time SickKids Hospital for Sick Children has conducted a single-patient gene therapy clinical trial.
There are about 80 children with this disease worldwide and Michael may be the only one in Canada.
