Gene therapy revives child with rare disorder in major medical breakthrough

Doctors and researchers at The Hospital for Sick Children (SickKids) in Canada have achieved a significant breakthrough in gene therapy, effectively halting the progression of a severe genetic disorder in a young boy named Michael. In March 2022, Michael underwent a specialized treatment for spastic paraplegia type 50 (SPG50), a condition affecting only about 80 children worldwide. This “ultra-rare” disorder progressively impairs neurological function, leading to developmental delays, speech issues, seizures, and paralysis of all limbs, often resulting in premature death.

The innovative gene therapy administered to Michael, which was detailed in a publication in the Nature journal, was developed less than three years after his initial diagnosis. This treatment involved introducing a healthy copy of the defective gene responsible for SPG50, which arises from mutations in the AP4M1 gene. The process aimed to provide Michael’s cells with the correct genetic information necessary to combat the disorder.

Dr. Jim Dowling, a staff physician at SickKids, noted that while these diseases are rare, the methods developed for Michael’s treatment could pave the way for similar therapies that could benefit many children with rare genetic conditions across Canada.

Following the gene therapy, Michael showed significant improvements; he was able to stand flat on his heels and made progress in various neurodevelopmental areas.

Michael’s parents, Terry and Georgia, shared their emotional journey with Medical Express, describing how the diagnosis had initially devastated their family. However, the support from the medical team at SickKids and the broader community empowered them to raise millions of dollars to fund the gene therapy. This effort not only offered hope to Michael but also has the potential to help other children facing similar challenges in the future.