Dr. Michael West, a researcher from Dalhousie University and co-author of the study, appears in this image provided by The Canadian Press.
A new study on gene therapy is showing real promise for patients living with Fabry disease — a rare, inherited condition that has long required expensive, ongoing treatment.
Researchers involved in the early-stage trial say this one-time therapy may not only improve lives but also save millions in long-term healthcare costs.
Dr. Michael West, a kidney specialist in Halifax and co-author of the study, said five men undergoing experimental gene therapy have collectively saved nearly as much money in treatment costs as the study itself required to fund. The research, which cost around $4 million (mostly supported by the Canadian Institutes of Health Research), has already resulted in estimated savings of $3.7 million — just by reducing the need for lifelong treatments.
What Is Fabry Disease?
Fabry disease prevents the body from creating an essential enzyme that breaks down fatty substances. Without it, harmful materials build up and damage the kidneys, heart, and other vital organs. People with Fabry often face fatigue, stomach issues, nerve pain, and, if untreated, a shortened lifespan.
How the Therapy Works
The experimental therapy uses stem cells from the patient’s own bone marrow. These cells are genetically modified to correct the faulty gene and then returned to the body, where they begin producing the missing enzyme.
In the trial, three patients who previously relied on enzyme-replacement therapy — which costs nearly $300,000 annually — were able to stop the regular treatment altogether after receiving the gene therapy.
One man with advanced kidney problems showed stabilized health, and over the past five years, none of the five patients experienced major health crises related to Fabry, such as kidney failure or heart issues.
Fewer Side Effects Than Expected
Gene therapies often come with risks, but so far, the side effects in this study have been limited. One man developed low white blood cell counts after chemotherapy — used to make room for new stem cells — and recovered with antibiotics. Another developed a large bruise on his leg, likely a side effect of the same chemotherapy drug, not the gene therapy itself.
Dr. West emphasized that larger studies are still needed to confirm the therapy’s safety and effectiveness, but the early results are encouraging.
Why It Matters
Traditional enzyme-replacement therapy is not only costly but also physically demanding. Patients must undergo treatment every two weeks, each session lasting about two hours. Gene therapy, by contrast, could provide long-term relief with just a single intervention.
In Canada, around 540 people have been diagnosed with Fabry disease, including about 100 in Nova Scotia. Interestingly, many can trace their genetic roots back to a single French woman who settled in Lunenburg centuries ago — a rare example of a genetic disorder tied closely to a specific population.
Looking Ahead
Dr. West and his team hope to expand the trial to include 25 to 30 patients, including women, over the next two to three years.
He believes that if larger studies support the results, governments could consider producing and owning gene therapy treatments themselves. This could allow them to license the therapies to other countries and health systems — a move that could transform how rare genetic diseases are treated and funded.
Dr. Ashley Hilchie, senior director of research at Nova Scotia Health, called the therapy a potential breakthrough, not just medically but economically.
“This is a perfect example of the importance of research,” she said. “It’s saving lives, improving quality of life, and potentially saving millions in healthcare costs.”
