Toronto boy with rare genetic disorder begins treatment after family raises US$3 million

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.

This complex neurogenerative condition is caused by a missing protein in the brain and results in severe developmental delays, progressive weakness and stiffness of the legs, and paralysis by the age of 10.

Roughly 80 children around the world have SPG50. However, Michael is believed to be the only one with the disease in Canada.

The Pirovolakis family, who live in East York, learned Michael had SPG50 when he was just over a year old.

Determined to help their son, Terry and Georgia Pirovolakis immediately got to work to raise more than US$3 million needed to pay for the experimental treatment that could stop the progression of and maybe even cure their son’s disease.

READ MORE: Family of baby boy with ultra-rare disease aims to raise $3M for gene therapy

Michael is seen with his father Terry Pirovolakis in this undated photograph. (GoFundMe)

Navigating the complexities of creating a cure for an ultra-rare illness, especially during a global pandemic, was no easy feat, Terry Pirovolakis admitted.

“It’s been a pretty long journey with lots of ups and down and then delays with COVID,” he said.

“We’re very grateful for our team. For every setback we always had a plan to move forward. We were always hopeful that everything remained on track.”

In December 2020, researchers created a prototype for the treatment and successfully tested it on animals in a laboratory.

Just over a year later on Dec. 30, 2021, Health Canada approved the first human SPG50 clinical trial. The new gene therapy was injected into Michael’s spinal canal at Toronto’s Hospital for Sick Children on March 24.

Dr. Jim Dowling, staff physician at SickKids’ Division of Neurology and a senior scientist in the hospital’s Genetics & Genome Biology program, led Michael’s clinical trial.

Pirovolakis said its all about giving Michael and others with ultra-rare illnesses a “better life.”

His son’s medical team agrees.

“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.

“Not only can rare diseases be a springboard to figure out how to treat more common conditions, but 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.”

Almost five months in, Michael is doing well.

SickKids says there are “some indications his symptoms may be improving” and that he will continue to be monitored over time “time to see whether the therapy effectively slows the progression of his disease and potentially reverses some of its impacts.”

Throughout this process, the Pirovolakis’ always kept in mind that their quest for a cure for SPG50 wasn’t just something they were doing for their own child.

“Our goal was always to help more than just Michael,” Pirovolakis said.

Four-year-old Toronto boy Michael Pirovolakis poses for a photo with his dad, Terry. Michael is believed to be the only person in Canada with an ultra-rare disease called spastic paraplegia type 50, or SPG50 for short. Last spring, he became the first person in the world to receive genetic therapy for this complex neurogenerative condition.

The company that manufactured the genetic therapy actually created 10 additional doses, however it costs US$250,000 per patient for the team to administer it and monitor its outcome for the next five years. Funds are now being collected and distributed through the charitable foundation the Pirovolakis’ created to help their son.

The plan is to start by administering the therapy, which the FDA just approved for use in the United States on Aug. 11, to two other SPG50 patients in Texas this fall and go from there.

“We’re hoping people will just open their wallets one more time and their hearts to help us treat as many people as we can,” Pirovolakis said.

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