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Nova Scotia celebrates research milestone for patients with Fabry disease

Click to play video: 'Nova Scotia celebrates research milestone for patients with Fabry disease' Nova Scotia celebrates research milestone for patients with Fabry disease
WATCH: Nova Scotia is celebrating a research milestone for patients with a rare inherited disorder called Fabry disease. This month, promising results were published from an experimental gene therapy study conducted in the province. Global News' Elizabeth McSheffrey speaks with one of the patients, living in Dartmouth, N.S., who says the treatment changed his life. – Feb 28, 2021

Three years ago, Dartmouth resident Ryan Deveau was living a very different life.

He was in the hospital every two weeks for enzyme replacement therapy, and while that helped him managed the symptoms of Fabry disease, he still endured pain in his stomach, hands and feet, and struggled with strenuous physical activity.

“A lot of Fabry patients can’t sweat or have reduced sweating, so I wouldn’t be able to do a lot of activities outside, or if I did get warm I’d have to take time to cool off,” he told Global News.

Fabry disease is a rare inherited disorder that leaves the body unable to produce the correct version of an enzyme that breaks down fat. The ensuing buildup of fat can do major damage to vital organs and shorten a patient’s lifespan.

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In 2018, Deveau became the fourth patient in the world to receive a groundbreaking gene replacement therapy that modified his stems cells, injecting them with a virus containing a functional version of the gene responsible for the lipid-breaking enzyme.

“It is completely experimental,” he said. “I just sat on a hospital bed and watched my blood leave my body, get spun around and then go back in my body, so my entire volume of blood left my body I think two and a half times.”

So far, he added, he feels “fantastic.”

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Last week, the promising results of that gene therapy study were finally published. It included five patients across Nova Scotia, Alberta and Ontario, who started producing the corrected version of the enzyme to near-normal levels within a week of the treatment, according to Nova Scotia Health.

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“The goals were first, can we be successful in transferring this gene and getting the gene to work? And secondly, is it a safe procedure?” said nephrologist Dr. Michael West, part of the Halifax team that co-led the study.

“We can answer ‘yes’ to both of those, although we still have more work to do to prove efficacy — that is, how well the gene is going to work, will it provide enough enzyme therapy, and will it actually deliver enough enzyme therapy into tissues like the heart and kidney, where the cells are not directly changed in this process.”

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Nova Scotia’s South Shore has the highest rates of Fabry disease in Canada. West said that’s because more than 90 per cent of Fabry patients have the same gene mutation, which can be traced to a common ancestor in Lunenberg, N.S. in the 1750s.

The disease affects one in 40,000 to 60,000 people worldwide, and about one in 8,000 in Nova Scotia.

West said the most recent gene therapy study was many years in the works, and it took a long time to find patients who were willing to take a “leap of faith.”

“It’s a phase one study, no one has ever done it before,” he explained, adding that extensive animal testing requirements and ethical standards had to be met first.

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West has regularly monitored the progress of patients like Deveau since the therapy took place, but said much larger patient numbers will be needed in order to prove the treatment’s efficacy.

Another eight years or so may be needed to collect the data for phase two and three trials, and the therapy will need to clear many regulatory hurdles after that before it becomes a standard treatment for Fabry disease.

Nevertheless, he said the process has been rewarding and a professional highlight.

“It’s very gratifying and it’s not common that you can get through a big project like this,” he told Global News, crediting his colleagues in Canada and the United States, the patients and research funders.

“This is one of, probably the most important projects I’ve been involved with in my career.”

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Deveau said he’s happy his participation in the study may eventually benefit not only other Fabry patients, but all those researching single gene mutations.

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