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“It was something completely unlike any other treatment we had heard of at the time,” recalls Ryan Deveau, one of five patients with Fabry diseases to receive a single-dose gene therapy in a first-in-the-world clinical trial conducted right here in Canada.

Fabry disease is a rare genetic condition that prevents the body from making enough α-galactosidase A (α-gal A), an enzyme responsible for breaking down fatty substances. Low or no levels of α-gal A enzymes can damage the kidneys, heart, and brain, reducing life expectancy. The current treatment involving an enzyme replacement therapy every two weeks is burdensome to patients and costs the health care system about $300,000 annually per patient.

But a CHIR-funded clinical trial has transformed Fabry disease treatment, improving patient outcomes and reducing health care costs.

“It was something completely unlike any other treatment we had heard of at the time,” recalls Ryan Deveau, one of five patients with Fabry diseases to receive a single-dose gene therapy in a first-in-the-world clinical trial conducted right here in Canada.

Fabry disease is a rare genetic condition that prevents the body from making enough α-galactosidase A (α-gal A), an enzyme responsible for breaking down fatty substances. Low or no levels of α-gal A enzymes can damage the kidneys, heart, and brain, reducing life expectancy. The current treatment involving an enzyme replacement therapy every two weeks is burdensome to patients and costs the health care system about $300,000 annually per patient.

But a CHIR-funded clinical trial has transformed Fabry disease treatment, improving patient outcomes and reducing health care costs.

The journey began in the 1990s when Dr. Jeffrey Medin, then a researcher atUniversity Health Network, pioneered a gene therapy that enabled blood stem cells to produce α-gal A enzymes. In the early 2000s, he partnered with Dr. Michael West, a nephrologist at Dalhousie University, to bring this novel gene treatment to patients. Eleven years later, their team launched the first-of-a-kind clinical trial at three Canadian sites.

The gene therapy was not only a first—it was a breakthrough. Within 12 hours, new enzyme circulated in the bloodstream. “We had predicted that this would happen based on several animal studies but seeing it in a patient was an amazing feeling for everyone involved,” recalls Dr. Medin.

Within a week, all participants produced near-normal enzyme levels and received approval to stop enzyme replacement therapy. “I would basically forget that I had Fabry disease,” says Ryan who went without treatment for three and a half years. Two patients remain off enzyme replacement treatment six years later.

Results from the study confirmed that the gene therapy is effective and safe. “Kidney functions stabilized, and patients didn’t have any Fabry clinical events over five years, whereas others on enzyme therapy did,” explains Dr. West.

The single-dose gene therapy also reduced the burden of frequent enzyme infusions.  For Ryan, that meant getting two hours of his treatment time back—every 2 weeks—to work or spend time with his children. “I felt really good doing everything a person without Fabry disease could do.”

“This represents not only a tremendous relief to patients but also a big cost savings,” says Dr. West. “By treating five patients with the new gene therapy and taking them off enzyme therapy, we have saved about $300,000 a year,” he adds. The overall savings of $3.7 million offset the total CIHR funding.

The study set a global precedent for Fabry disease gene therapy. Now the researchers hope to scale up access to this lifesaving therapy through collaborations with a biotech company. “That’s what keeps me up at night,” says Dr. Medin, “I want to make sure that as many patients as possible can have access to this gene therapy.”

At a glance

Issue: Fabry disease is a rare genetic condition affecting the production of an enzyme responsible for breaking down fatty substances. Without it, damage accumulates in vital organs, causing serious symptoms and early death. Existing treatments are burdensome for patients and costly for the healthcare system.

Research: A CIHR-funded clinical trial was the first study in the world to test a gene therapy as an alternative to treat Fabry disease. Results showed the novel therapy was safe and effective and reduced treatment burden. The team is now partnering with a biotech company and plans a larger study to confirm long-term efficacy and safety of this gene therapy to make it available to more patients.