Gene therapy gives hope to treat a rare hereditary disease

(Halifax) A researcher claims that experimental gene therapy for a rare hereditary disease saves almost as much money for the treatment of five patients as the cost of the study itself.

The preliminary study published last year revealed that three of the men treated for Fabry’s disease were able to stop following an substitute enzymatic treatment, which costs around $ 300,000 a year, after starting “unique” gene therapy.

The D^r Michael West, co -author and nephrologist in Halifax, says that total economies have been 3.7 million, against research costs of approximately 4 million to date, largely funded by Canada’s health research institutes (IRSC).

Fabry’s disease is a rare disease that prevents the body from producing the correct version of an enzyme that breaks down lipids, which leads to significant lesions of the vital organs and a reduction in life expectancy. Some people suffer from various symptoms, including pain and feet pain, intestinal disorders and chronic fatigue.

Gene therapy uses stem cells taken from a patient’s bone marrow to administer a replacement copy of the defective gene.

The research team wrote in the Journal of Clinical and Translational Medicine Last year that one of the men with an advanced kidney disease had seen his condition stabilize. Researchers also found that none of them had undergone major events, such as a heart attack or renal failure caused by Fabry’s disease in the past five years, reported the D^r West.

“These patients produce even more necessary enzymes than before gene therapy,” said the 72 -year -old doctor, who works at the Queen Elisabeth II Health Sciences Center in Halifax, and is a professor at Dalhousie University.

Few cases of side effects

The D^r West said that in other cases of gene therapy, serious side effects have been observed, including the development of various forms of cancer. However, he said that, since patients received their gene therapy for Fabry’s disease between 2016 and 2018, there were only two cases of side effects, none being a direct consequence of therapy itself.

In one case, a chemotherapy medication used to “make room” in the bone marrow for modified cell transplant led to a drop in the number of white blood cells in a man. He was treated by antibiotics for potential infection and recovered, detailed the researcher.

In another case, a man has developed significant leg bruising, which researchers attribute to the possible side effects of the chemotherapy medication.

Even if research must be carried out on a larger scale before becoming a conventional treatment, the D^r West believes that it deserves to be continued, in particular due to costs and “support for patients” that current treatment represents.

The specialist said that the conventional substitute enzymatic treatment should be administered every two weeks, each session requiring about two hours.

Of the 540 people with Fabry’s disease in Canada, the researcher indicates that a hundred is in Nova Scotia. It is believed that the first person carrying this genetic mutation dates back to a Frenchwoman who immigrated to Lunenburg, Nova Scotia, in colonial times. His descendants were carriers of the defective gene during the following 18 generations.

“Currently, there are cases in Ontario, British Columbia, the United Kingdom and Florida, but they are all from here and share the same mutation,” said the D^r West.

The specialist said that the final cost of gene therapy per patient remains to be determined, as it should first be approved by the main regulatory organizations as a recognized treatment.

However, he said that an option for hereditary genetic diseases, where the group of patients is relatively limited, would be that government research organizations develop and appropriate treatment, and then perceive fees to provide other national health systems.

The D^r West said it was aware of the small sample size and that the objective is now to carry out a similar study with 25 to 30 patients, including women, over a period of two to three years.

The main director of research in Health Nova Scotia said on Friday in an email that the project offers new hope to people with Fabry’s disease because he replaces life treatments with a “potential curative solution”.

“The impact could be both deeply personal and economic, making it possible to save lives, improve the quality of life and save millions of dollars in health care. This is a perfect example of the importance of research, ”wrote the D^re Ashley Hilchie.