Toronto boy with ultra-rare disease receives groundbreaking gene therapy, funds being raised to help others with SPG50

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Toronto boy with ultra-rare disease receives groundbreaking gene therapy, funds being raised to help others with SPG50
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A Toronto family’s heart-wrenching journey to find a cure for their son’s ultra-rare disease has reached a new milestone.

After three-plus years of intense fundraising and equally laborious work to develop a possible 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.

The Pirovolakis family, who live in East York, learned Michael had SPG50 when he was just over a year old. In December 2020, researchers created a prototype for the treatment and successfully tested it on animals in a laboratory. “Successfully conducting the trial for Michael was not only a key milestone for him and his family but also for achieving SickKids’ vision for Precision Child Health, a movement to deliver individualized care for every patient,” Dr. David Malkin, who is the CIBC Children’s Foundation Chair in Child Health Research at SickKids, said in a news release.

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