Research on gene therapy for rare inherited disease reduces costly, regular treatment
Global News
Out of the roughly 540 people with Fabry in Canada, the researcher says about 100 are in Nova Scotia.
A researcher says an experimental gene therapy for a rare inherited disorder is saving almost as much money for the treatment of five patients as the study itself costs.
The early-stage study published last year found that three of the men being treated for Fabry disease were able to stop using enzyme-replacement therapy — which costs about $300,000 annually — once they started on the “one-time” gene therapy.
Dr. Michael West, a co-author and kidney specialist in Halifax, says the overall savings have been $3.7 million, against research costs to date of about $4 million — which was largely provided by the federal Canadian Institutes of Health Research.
Fabry disease is a rare disorder that leaves the body unable to produce the correct version of an enzyme that breaks down fatty materials — leading to major damage to vital organs and shortened lifespans. Some people suffer various symptoms including pain in their hands and feet, intestinal problems and chronic fatigue.
The gene therapy uses the stem cells taken from a patient’s bone marrow to deliver a replacement copy of the faulty gene.
The research team wrote in the Journal of Clinical and Translational Medicine last year that one of the men with advanced kidney disease saw his condition stabilize, and the researchers also found that none of the men had major events such as heart attacks or kidney failure caused by Fabry over the last five years, West said.
“These patients are still producing more of the needed enzymes than they did prior to the gene therapy,” said the 72-year-old physician, who works at the Queen Elizabeth II Health Sciences Centre in Halifax and is a professor at Dalhousie University.
West said in other instances of gene therapy there’s been cases of severe side effects from procedures, including the development of various forms of cancer. However, West said that since the men received their gene therapy for Fabry between 2016 and 2018, there has been just two instances of side effects, neither of which were a direct result of the therapy itself.
