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'There's no stopping': Family of boy treated for rare genetic disease looks to cure others


Terry Pirovolakis and his family may have achieved the unthinkable, but the father from Toronto says the work isn't over yet.

The Pirovolakis family raised $3 million to develop a possible cure for their son, Michael, who suffers from a rare genetic disease called spastic paraplegia type 50 or SPG50.

Three years after receiving his diagnosis, and with the help of an international team of doctors and scientists, on March 24, 2022, four-year-old Michael became the first person to receive a new form of gene therapy meant to treat the disease.

On Monday, Michael's father Terry Pirovolakis told CTV's Your Morning that the drug has received U.S. Federal Drug Administration approval and clinical trials are set to take place in Texas, with the goal of treating 10 more children.

"There's no stopping, we have to cure them all," he said.

SPG50 is a neurodegenerative disease that causes the body to fail to produce a certain protein needed for development, leading to lost muscle tone and possible paralysis.

The aim of the gene therapy is to create that crucial missing protein.

"It was a lot of work, but we were fortunate to have an amazing community and an amazing bunch of scientists support us," Pirovolakis said.

Every week, he said he receives at least one call from a family around the world, whose child is going through a similar situation. Altogether, he said he and his family have helped guide about 30 other families since his son was diagnosed.

Now that Michael has received the therapy, Pirovolakis said it's a matter of waiting to see what happens.

"It's like building a rocket ship landing on Mars. You kind of know what's going to happen but you don't really know," he said.

Watch the full interview with Terry Pirovolakis at the top of the article. With files from CTV News Top Stories

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