Research on gene therapy for rare inherited disease reduces costly, regular treatment

Gene therapy has been making waves in the medical world, with a recent study showing promising results in the treatment of Fabry disease, a rare inherited disorder. The study, which was published last year, found that three out of five patients with Fabry disease were able to discontinue their enzyme-replacement therapy, which costs around $300,000 annually, after receiving gene therapy.

Dr. Michael West, a kidney specialist and co-author of the study, revealed that the overall savings from discontinuing enzyme-replacement therapy amounted to $3.7 million, almost covering the research costs of $4 million. The research was largely funded by the Canadian Institutes of Health Research.

Fabry disease is a debilitating condition that affects the body’s ability to produce a crucial enzyme, leading to organ damage and shortened lifespans. Symptoms can range from pain in the hands and feet to chronic fatigue and intestinal problems.

The gene therapy used in the study involves extracting stem cells from the patients’ bone marrow and delivering a replacement copy of the faulty gene. The researchers reported in the Journal of Clinical and Translational Medicine that one patient with advanced kidney disease saw his condition stabilize, and none of the patients experienced major events such as heart attacks or kidney failure due to Fabry disease in the last five years.

Dr. West emphasized that the patients are still producing more of the necessary enzymes than before the gene therapy. He noted that while some gene therapy procedures have resulted in severe side effects, the patients in this study only experienced two instances of side effects, neither of which were directly caused by the therapy.

The success of the study has sparked optimism in the medical community, with Dr. West advocating for larger-scale studies to validate the findings. He highlighted the burden and cost of current enzyme-replacement therapy, which requires bi-weekly treatments lasting two hours each time.

Out of the approximately 540 individuals with Fabry disease in Canada, around 100 reside in Nova Scotia. The genetic mutation responsible for Fabry disease can be traced back to a French woman who immigrated to Lunenburg, N.S., in the colonial era, with her descendants carrying the faulty gene through 18 generations.

While the ultimate cost of gene therapy per patient is yet to be determined, Dr. West suggested that government research agencies could develop and own the treatment, earning fees by providing it to other national health systems. The next step for the research team is to conduct a similar study with 25 to 30 patients, including women, over a two- to three-year period.

The potential of gene therapy in treating rare inherited disorders like Fabry disease is groundbreaking, offering hope for patients and paving the way for innovative treatment options in the future.