Treating Fabry disease with gene therapy in Nova Scotia

FOR IMMEDIATE RELEASE Thursday, Feb. 25, 2021 Halifax, NS – Results of a world-first pilot study using gene therapy to treat patients with Fabry disease shows the treatment works and is safe. The findings of this study are being reported today in the journal Nature Communications.

A Canadian research team, including researchers in Halifax at the QEII Health Sciences Centre, was the first to use gene therapy in 2017 to treat patients with Fabry disease, a rare chronic illness that can damage major organs and shorten lives.

“Being one of the first people in the world to receive this treatment, and seeing how much better I felt afterward, it definitely gives me hope that this can help many other Fabry patients and potentially those with other single gene mutation disorders,” says Ryan Deveau, a participating patient in Dartmouth, Nova Scotia. “Now that I don’t have to get the enzyme replacement therapy every two weeks, I have more time to spend with my family.”

People with Fabry disease have a gene called GLA that doesn't function correctly. As a result, their bodies are unable to produce the correct version of an enzyme that breaks down a fat. A buildup of fat can lead to problems in the kidneys, heart, and brain.

An estimated 1 in 40-60,000 people worldwide has Fabry disease. In Nova Scotia, the number is estimated to be about 1 in 8,000. The province’s South Shore has the highest rates of the disease in Canada.

As a result of the gene therapy provided during the study in 2017, the five participating patients – located in Nova Scotia, Ontario, and Alberta – began producing the corrected version of the enzyme to near normal levels within a week of receiving treatment.

“This really was a ground-breaking study, given current therapies are not cures,” says Dr. Michael West, a nephrologist at Nova Scotia Health and director of the Nova Scotia Fabry Disease Clinic. “This is the next step in moving toward a better therapy and hopefully a cure for this disease, which can really cause patients a lot of pain and suffering. It’s promising that the participating patients are still seeing benefit from the treatment several years after the procedure was completed.”

Researchers collected a quantity of each patient’s own blood stem cells, then used a specially engineered virus to inject those virus cells with copies of the fully functional gene that is responsible for the enzyme. The modified stem cells were then transplanted back into each patient.

Regular Fabry patients currently undergo enzyme therapy infusions every two weeks. This new gene therapy would see them receive a single treatment that could prove to be more effective clinically since the modified blood stem cells continuously produce corrected versions of the defective enzyme. However, it will take several years of further testing before this experimental treatment becomes clinically available as the standard of care.

At Nova Scotia Health, Dr. West worked as a co-investigator on this study at the QEII Health Sciences Centre with the late hematologist Dr. Stephen Couban. Other members of the research team included a medical geneticist with Alberta Health Services and Alberta Children’s Hospital Research Institute and a senior scientist at Princess Margaret Cancer Centre, University Health Network in Ontario (who is now with the Medical College of Wisconsin).

Patients participating in the study were followed from January 2017 to February 2020, and ongoing follow-up will extend until February 2024.