- Researchers achieved a breakthrough in gene therapy at Canada’s SickKids Hospital, halting the progression of the rare genetic disorder SPG50 in a young boy.
- The successful single-patient trial for Michael Pirovolakis shows promising signs of gene therapy's safety and effectiveness.
A clinical trial published in Nature Medicine reveals that doctors and researchers at a children's hospital in Canada have achieved a significant breakthrough with gene therapy that stopped the advancement of a rare genetic disorder in a young boy named Michael Pirovolakis.
Michael has spastic paraplegia type 50 (SPG50), a rare and progressive neurodegenerative disorder. This condition leads to developmental delays, speech difficulties, seizures, and gradual paralysis of all limbs, and it usually results in death by adulthood. It affects about 80 children globally.
Michael’s treatment was administered in a unique single-patient trial at The Hospital for Sick Children (SickKids) in March 2022, significantly changing the trajectory of his condition. As per reports, in the year following his treatment, Michael experienced no serious side effects, and his condition, unlike typical neurodegenerative disorders like SPG50, appears to have stopped progressing.
Dr. Jim Dowling, Staff Physician in the Division of Neurology and Senior Scientist in the Genetics & Genome Biology program at SickKids, said:
“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.”
Reports also suggest that the clinical research team is monitoring Michael's progress. The trial offers promising early proof in the healthcare domain that gene therapy is safe and effective in slowing or stopping the advancement of SPG50. Additionally, the results further demonstrate the potential for rapidly developing and customizing gene therapy for patients with rare genetic disorders.
Edited by Harshajit Sarmah
