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

A Toronto family’s harrowing journey to find a cure for their son’s ultra-rare disease has reached a new milestone.

After more than three years of intense fundraising and equally painstaking work to develop a potential 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 years.

Approximately 80 children worldwide 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 that Michael had SPG50 when he was just over a year old.

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

READ MORE: Family of baby with ultra-rare disease aims to raise $3 million 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 disease, especially during a global pandemic, was no easy task, Terry Pirovolakis admitted.

“It’s been quite a long journey with a lot of ups and downs and then delays with COVID,” he said.

“We are very grateful for our team. For every setback we always had a plan to move forward. We always hoped that everything would stay 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 December 30, 2021, Health Canada approved the first human clinical trial of SPG50. The new gene therapy was injected into Michael’s spinal canal at Toronto’s Hospital for Sick Children on March 24.

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

Pirovolakis said it’s about giving Michael and other people with ultra-rare diseases a “better life.”

Your child’s medical team agrees.

“Successfully conducting the trial for Michael was not only a key milestone for him and his family, but also in achieving Precision Child Health’s SickKids vision, a movement to provide individualized care for each patient,” said Dr. David Malkin , who is the CIBC. Children’s Foundation on Children’s Health Research at SickKids, in a press release.

“Not only can rare diseases be a springboard to discover how to treat more common conditions, but the learnings from Michael’s trial will help pave a path for SickKids to explore innovative, precision-based treatment options for other patients with genetic diseases. rare. ”

Almost five months later, Michael is doing well.

SickKids says there are “some indications that his symptoms may be improving” and that he will continue to be monitored over time “to see if 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 search for a cure for SPG50 was not just something they were doing for their own son.

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

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

The company that made the gene therapy actually created an additional 10 doses, yet it costs $250,000 per patient for the team to administer and monitor their outcome over the next five years. The funds are now being raised and distributed through the charitable foundation the Pirovolakis created to help their son.

The plan is to start giving the therapy, which the FDA just approved for use in the United States on August 11, to two more SPG50 patients in Texas this fall and continue from there.

“We hope that people will once again open their wallets and their hearts to help us treat as many people as we can,” Pirovolakis said.

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