A simple pill that switches off a genetic trigger could potentially provide a powerful treatment for Fabry disease, a rare disorder that radically shortens the lives of sufferers.
But first, the studies to determine that drug’s effects have to be done.
That’s expected to take place later this year at Halifax’s QE II Health Sciences Centre under the watchful eye of Dalhousie University Department of Medicine professor Dr. Michael West, and at the Alberta Children’s Hospital under the supervision of Dr. Aneal Khan.
Fabry disease is caused by a gene on the X chromosome and leaves the sufferer’s body unable to properly break down a fatty substance which then leaves deposits on the walls of blood vessels and tissues throughout the body. That then greatly increases the risk of heart attacks, strokes, and kidney failure.
Although Fabry disease can hit both sexes, women are typically less hard hit because they carry two X chromosomes and so the healthy chromosome provides some measure of protection.
“Females are less affected because they have another X chromosome that is not affected. Men only have the one X chromosome . . . so they’re severely affected,” said Dr. West in an interview Friday.
In the 16-week clinical trials expected to start later this year — if the research method is given the nod by the QE II’s ethics committee — the researchers led by West and Khan will measure the effects of the drug apabetalone on 44 patients suffering with Fabry disease. Half of these will be patients already on an enzyme replacement therapy to help their bodies break down those fatty substances. The reason for the two locations is to make it easier to recruit Fabry disease sufferers. There are only 440 of them in Canada.
The clinical trial is being undertaken for Calgary-based pharmaceutical company Resverlogix Corp., which got the green light in May from Health Canada’s therapeutic products directorate to go ahead.
Resverlogix is developing apabetalone and having it tested not only for Fabry disease but also for its potentially-important benefits for patients at high risk of cardiovascular disease, diabetes, mellitus, chronic kidney disease, and Alzheimer’s.
expectancy of only 58.2 years if the disease is untreated, said West. Female patients who do not get treatment have a life expectancy of about 74 years.
Due to that dramatic impact of Fabry disease on life expectancy and the disease’s debilitating effects, there is cutting-edge research being done to develop other treatments.
Apabetalone offers hope.