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Four-Year-Old Boy Receives Cure for Rare Disease

August 20, 2022

Michael Pirovolakis, a four-year-old boy in Toronto, is now the only child in the world to receive a potential cure for his extremely rare disease. After his parents desperately raised $3 million over a period of three years, they finally have faith for their son’s possible recovery.

He is the only child in Canada diagnosed with spastic paraplegia 50 (SPG50), a slowly progressing neurodegenerative disorder that generally appears with global developmental delay leading to cognitive impairment and eventual paralysis.

Doctors at SickKids Hospital in Toronto injected a normal version of the gene Michael was missing into his spinal fluid in order to deliver it to his brain this past March.

Michael is the only participant in the one-dose therapy that is part of a ground-breaking clinical trial.

His parents, Georgia and Terry Pirovolakis are beginning to see some signs of hope.

“You know, we’re cautiously optimistic, let’s call it that. We are seeing some improvements,” said Georgia, noting that he is  “pointing or playing with his toys, you know, grabbing a truck and actually pushing it, he’s doing all these things that he never did before.”

“It’s our hope that, you know, he becomes normal, obviously a normal boy, you know, lives his life able to communicate, walk, whatever else. But, you know, again, if he’s able to be mobile, be vocal, tell us what he wants, I think that would be a huge win for us,” she added.

In 2019, Georgia and Terry were told that their 18-month-old son may never walk or talk. Even though the pair said they were devastated, they were eager to find a potential cure at a time where none existed.

GoFundMe and community fundraisers were their helping hand as they raised more than $3 million in donations. The aim was to finance the development of a specialized gene therapy that could substitute the mutated or missing gene causing Michael’s condition. Scientists around the globe helped develop a prototype, and once the therapy was successful, it was then tested in animal models in the lab. After this procedure was completed, it was ready to be given to Michael.

“In gene therapy, that really is the strategy,” said Dr. Jim Dowling, a staff physician in the division of neurology and senior scientist in the Genetics & Genome Biology Program at SickKids, who led Michael’s clinical trial and was the doctor who first diagnosed him.

“We think it’s one of the first times someone has taken the strategy of gene therapy and done a single individual clinical trial, so we’re very excited for the results for Michael for this trial, but also what it could mean for other children with rare diseases,” he said.

The doctor’s expectation is that the treatment will stop the progression of the disease and possibly even reverse degeneration that has already set in. Dr. Dowling mentioned that improvements in Michael’s cognitive and mobility abilities should be evident in the next few months. For the next five years, SickKids Hospital will monitor his progress.

“Obviously the hope is that it will reverse some of the problems that have already been presented and enable him to gain functions he didn’t have before,” said Dowling.

Further to helping Michael, thousands of other children with rare conditions around the world will now have the potential to receive help. Doctors in this trial noted that lessons learned in this case could be taken on board to help other similar situations.

“As a physician, this gives me hope that the future is brighter, hopefully for him and definitely for many children for many generations,” said Dr. David Malkin, the co-lead for Precision Child Health at SickKids Hospital.

“Learnings from Michael’s trial will help carve out a path for SickKids to explore innovative, precision-based treatment options for other patients with rare, genetic diseases,” he added.

The FDA approved Michael’s therapy on August 11, and his family plans to continue raising money to help fund a clinical trial for other children through a foundation they will soon create for Michael.

 

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