Queen Elizabeth II Health Sciences Centre

Gene Therapy for Fabry Disease Shows Promise with $3.7 Million Cost Savings in Early-Stage Trial

- A small-scale gene therapy study for Fabry disease enabled three of five male patients to discontinue costly enzyme-replacement therapy, generating $3.7 million in savings against $4 million research costs. - The experimental treatment uses bone marrow stem cells to deliver replacement copies of faulty genes, with patients maintaining elevated enzyme production five years post-treatment. - Researchers plan to expand the study to 25-30 patients including women over two to three years, as the current therapy requires bi-weekly treatments costing $300,000 annually per patient. - The gene therapy demonstrated a favorable safety profile with only two minor side effects related to preparatory chemotherapy rather than the gene therapy itself.