Gene therapy gives life to child with rare genetic disorder in major medical breakthrough

Toronto

Doctors and researchers at a children's hospital in Canada have struck a rare success after gene therapy halted the progression of rare genetic condition in a young boy. 

The boy, identified as Michael, reportedly received an individualised gene therapy at The Hospital for Sick Children (SickKids) in March 2022. Michael has spastic paraplegia type 50 (SPG50).

It is an "ultra-rare" progressive neurodegenerative disorder that causes developmental delays, speech impairment, seizures, a progressive paralysis of all four limbs, and is typically fatal by adulthood. 

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According to the findings of Michael's gene therapy published in the Nature journal, approximately 80 children around the world are affected by this genetic condition.

SPG 50 gene therapy treatment: What did scientists do?

In a bid to slow the progression of the condition, a clinical research team at SickKids administered a first single-patient gene therapy to Michael less than three years after his initial diagnosis, according to a report in the Medical Express. 

What is gene therapy?

Gene therapy is a way of delivering a healthy copy of a gene into the cells of a person who has a faulty gene(s). In Michael's case, SPG50 is caused by two pathogenic variants in a gene called AP4M1.

"While these ultra-rare diseases are unique, our workflow provides a road map for gene therapies that could help many of the thousands of children in Canada with rare genetic conditions," Dr Jim Dowling, Staff Physician in the Division of Neurology and Senior Scientist in the Genetics & Genome Biology program at SickKids, was quoted as saying by the Medical Express.

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During the gene therapy, Michael was able to stand with his heels on the ground. He also experienced improvements in some aspects of his neurodevelopment.

"When we heard that Michael had been diagnosed with this terrible disease, our world fell apart. We were lost and broken as a family," Michael's parents, Terry and Georgia told Medical Express. 

"Thankfully, we had an amazing team at SickKids and a supportive community that lifted us up and gave us the confidence to raise millions of dollars and create a therapy, not only for Michael, but for other children affected by this disease for generations to come."

(With inputs from agencies)