‘Uncharted Territory’: Toronto family of child with rare disease raises $3 million for therapy

The Toronto family of four-year-old Michael Pirovolakis, the only child in Canada diagnosed with spastic paraplegia type 50, otherwise known as SPG50, has raised $3 million for gene therapy for their son.

“It could change his life. It can make it so much better,” said Terry Pirovolakis, Michael’s father.

The Hospital for Sick Children (SickKids) has never before conducted a single-patient gene therapy clinical trial. The clinical research team consulted experts around the world and coordinated multiple teams and departments to be able to deliver such an innovative treatment.

“Everyone pulled together and we just made it to the finish line — maybe not as soon as we wanted to, but we got there,” added Michael’s mother, Georgia Kumaritakis.

“In June of last year, we applied to Health Canada and the FDA and asked them if our case, in terms of our safety and efficacy for Michael’s gene therapy, was OK. They came back with some changes. We modified and on December 30 they gave us approval to dose Michael,” Terry said. “On March 24, Michael received a dose of the gene therapy we made.”

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Researchers believe gene therapy has the potential to halt SPG50 progression and even reverse some of the damage.

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Toronto family of child with ultra-rare disease fights for cure

“No one really knows. This is uncharted territory,” Terry said. “We are waiting and praying every day for Michael to get better.”

The family is now monitoring for signs that the treatment is working.

“The theory is that it would stop the disease, not that it would do more than that. So that’s what we were told. I personally think that if Michael was a month old or six months old, it would have cured him and cured him. Sadly, Michael received gene therapy when he was four years old… All we’re trying to do is give him a better life,” Terry said.

Michael was one year old in 2019 when he underwent genome-wide sequencing at SickKids, which revealed he had two pathogenic variants in a gene called AP4M1. These variants lead to SPG50, which is a progressive neurodegenerative disorder causing developmental delays, speech impairment, seizures, progressive limb paralysis, and can be fatal.

It is believed that there are approximately 80 children worldwide with SPG50, making it an ultra-rare disease.

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“We are coming across more and more situations where we see that only a few other people in the world might have it,” said Dr. Jim Dowling, staff physician in the Division of Neurology and senior scientist. in the Genetics and Genome Biology program at SickKids, who led Michael’s clinical trial.

“That was certainly the case for Michael. So we were operating with a lot of unknowns, which creates a whole new set of stresses and worries for the family.

Michael’s treatment options were extremely limited and after his diagnosis, Michael’s parents immediately began raising funds through a GoFundMe Campaign to “Cure Michael, cure SPG50”.

There have been countless fundraisers and the couple credit their East Toronto community for helping them get there.

“First, we took out all our savings to start the programs because we couldn’t wait. But the second we got our story out, people came to our house, giving us envelopes of money, people organizing events. … We had beer stands, beer markets, galas, football tournaments, little kids doing lemonade stands on the side of the street,” Terry said.

“The generosity has escalated and that’s why 23,000 donations later we have therapy for Michael,” he added.

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The family started a charity, Cure SPG50, with the aim of “giving children affected by SPG50 a brighter future”.

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The goal was to develop a gene therapy that could help Michael, and all others like him with SPG50. They worked with doctors and companies in Canada, the United States and elsewhere to coordinate the research, development and manufacture of a gene replacement therapy intended to deliver a normal version of the AP4M1 gene.

“The gene replacement therapy was administered into Michael’s cerebrospinal fluid through a spinal tap or spinal tap. We used imaging technologies to guide needle placement. The therapy was infused over a period of 10 minutes, then the needle was removed. Afterwards, Michael was held face down with hips elevated for an hour to increase drug flow to his brain,” Dowling said.

Passing the trial for Michael was not only a key milestone for him, but also for realizing SickKids’ vision of precision child health, a movement to provide individualized care to each patient, said explained Dr. David Malkin, co-head of Precision Infant Health. and Director of the Cancer Genetics Program at SickKids.

“What this demonstrated very well was that we could have a trip for Michael where a genetic test was done which identified the genetic alteration that caused the disease and then from that we understand to after the science that a drug can be developed, in this case a gene replacement therapy, and that can then be operated as a single patient for Michael,” Malkin said.

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“That’s what precision medicine is for. … We have a specific treatment for Michael’s particular illness.

SickKids doctors hope that the learnings from Michael’s trial will allow SickKids to explore innovative and specific treatment options for other patients with rare genetic diseases.

“I think when this whole process started, if you asked me, ‘Was it possible to develop a therapy for one or a small number of children affected by an ultra-rare disease?’ I don’t know if I would have said yes. But the fact that we did this tells me we could do this for all the Michaels we have at SickKids,” Dowling said.

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Since receiving his treatment, Michael now undergoes therapy for more than two hours a day at Canada’s largest children’s rehabilitation hospital, Holland-Bloorview in Toronto.

“We are cautiously optimistic. He lost a lot of the skills he had during the COVID break. His disease progressed dramatically without all of these therapies in place. And so now we see hope. There is hope at the end of the tunnel,” her mother Georgia said.

“Throughout this journey, we’ve always said to ourselves, we love Michael no matter what. … If we don’t get any therapy for Michael, it won’t change the way we love him. But if we can changing your life for the better is amazing,” Terry said.

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The family’s journey is not over.

“Even though in Toronto it has been a journey to cure Michael, the story is Cure SPG50 and we promised ourselves, me and my wife Georgia and our family that we would help as many children as possible, not just Michael,” Terry said.

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