Early Canadian study shows gene therapy for Fabry disease may reduce $300K annual costs, offering long-term benefits and fewer side effects for rare condition.
Promising Results in Halifax-Based Study
A Halifax-led research team studying gene therapy for Fabry disease has reported early success, with results showing significant health improvement and cost savings. The experimental treatment has helped five male patients reduce or eliminate the need for costly enzyme-replacement therapy, which typically costs around $300,000 per person per year.
Long-Term Savings for Public Health
Dr. Michael West, a kidney specialist at Queen Elizabeth II Health Sciences Centre and professor at Dalhousie University, says the study’s costs have totaled $4 million, while it has already saved $3.7 million in treatment expenses. The project is funded largely by the Canadian Institutes of Health Research. “The early results are promising—not only clinically but economically,” West said.
How the Therapy Works
The therapy involves extracting stem cells from a patient’s bone marrow and inserting a healthy version of the faulty gene that causes Fabry disease. Once reintroduced into the body, these cells start producing the missing enzyme. The study, published in The Journal of Clinical and Translational Medicine, noted no major Fabry-related health events such as heart attacks or kidney failure over five years.
Side Effects and Safety
Unlike other gene therapies that have resulted in severe side effects or even cancer, this study reported only two non-life-threatening complications. Both were linked to chemotherapy drugs used to prepare the bone marrow, not the gene therapy itself. “Overall, the treatment has been well tolerated,” West confirmed.
Impact on Patients’ Lives
Fabry disease affects the body’s ability to produce a crucial enzyme, leading to symptoms such as chronic fatigue, pain, and organ damage. Traditional treatments require bi-weekly, two-hour enzyme infusions, creating a long-term burden on patients. With gene therapy, many of those burdens may be lifted if ongoing trials prove successful.
A Canadian Genetic Legacy
Around 540 Canadians are known to live with Fabry disease, with about 100 patients in Nova Scotia alone. Dr. West says the genetic mutation likely traces back to a French woman who immigrated to Lunenburg, N.S., centuries ago. The same mutation has been found in patients across Ontario, B.C., the U.S., and the U.K., all believed to be her descendants.
What Comes Next
While these early results are encouraging, the treatment must go through larger-scale trials before becoming standard care. A follow-up study with 25–30 patients, including women, is now in development. West also suggests that public health agencies could consider owning the therapy models for rare inherited diseases, helping ensure global access while recovering costs through licensing.
“Given the clinical impact and the financial toll of current therapies, this approach is worth pursuing,” West said.
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