Revolutionary gene therapy shows promise against disease in U of C study

A component of HIV is showing promise in controlling a rare chronic disease, says a University of Calgary researcher heading up a groundbreaking study.

By extracting properties from the virus that causes AIDS, researchers have been able to craft a potential treatment for Fabry disease, a DNA disorder that attacks organs such as the kidneys, brain and heart, said Dr. Aneal Khan of the Cumming School of Medicine.

“Even when we're confronted with challenges from something like HIV, human ingenuity can figure out how we can get something positive from it,” Khan said.

In research that began in 2017, scientists isolated lentivirus from HIV, placing it into DNA to mimic Fabry, he said. Lentiviruses are known for their ability to enter cells and insert genetic material.

“It merges with a patient's DNA; then we have a working copy of a gene that produces this enzyme,” Khan said.

In patients with Fabry disease, a malfunctioning gene results in a deficiency of an enzyme, leading to severe pain, diarrhea and even strokes as the disease attacks organs.

Currently, Fabry sufferers, who number only 500 in Canada, require enzyme therapy every two weeks, like kidney patients tethered to dialysis, Khan said.the disease also drastically lowers life expectancy, particularly in men, who typically don't live past their 50s.

But a Phase 1 clinical trial involving five subjects, three of them in Calgary, suggests a single treatment of gene therapy boosts production of the enzyme, possibly permanently, Khan said.

“Three of the subjects have not needed those (extra) enzymes and are producing what looks to us like adequate levels of them.”

Darren Bidulka, one of the study subjects, was diagnosed with Fabry in 2005 and for 13 years got biweekly enzyme top-ups to control symptoms centring on his gastrointestinal system.

Without those treatments, the likelihood of kidney and heart failure lurked, he said. But since a month of gene and chemotherapy in early 2017 at the Foothills Medical Centre, Bidulka has led a life untethered to those enzyme topups and the fear of organ failure.

“It's amazing — I'm grateful that for four years I haven't had enzyme treatment, and that's a miracle for a Fabry patient … maybe something can be done for someone much younger than me who won't have to suffer any organ damage.”