Halifax, NS , A groundbreaking study out of Halifax suggests that gene therapy could drastically reduce the financial burden of treating Fabry disease, a rare inherited disorder. Early results indicate that the experimental treatment is nearing cost-neutrality, with savings potentially exceeding the research investment itself.
The study, published last year in the Journal of Clinical and Translational Medicine, focused on a small group of male patients with Fabry disease. The core finding: several participants were able to discontinue enzyme-replacement therapy (ERT), the standard treatment, after receiving a one-time gene therapy infusion.
“These patients are still producing more of the needed enzymes than they did prior to the gene therapy,” said Dr. Michael West, a kidney specialist and co-author of the study from the Queen Elizabeth II Health Sciences Centre in Halifax.
ERT, while effective in managing the disease, carries a hefty price tag, costing approximately $300,000 per patient annually. Gene therapy offers the potential for a one-time intervention, thereby significantly lowering long-term expenses. West estimates that the savings from treating just five patients has already reached $3.7 million, compared to the $4 million spent on the research, largely funded by the Canadian Institutes of Health Research.
Fabry disease stems from a genetic defect that impairs the body’s ability to produce an enzyme crucial for breaking down fatty substances. This deficiency leads to the buildup of fatty materials in vital organs, causing progressive damage and potentially shortening lifespan. Symptoms can range from chronic fatigue and intestinal distress to severe pain in the extremities. “We didn’t realize it until later,” recalls one patient’s family member, “how much the constant infusions were impacting his quality of life.”
The gene therapy approach involves extracting stem cells from the patient’s bone marrow and introducing a functional copy of the defective gene. These modified cells are then reintroduced into the patient, effectively providing the body with the missing enzymatic machinery.
The initial results are encouraging. The research team reported that one patient with advanced kidney disease experienced a stabilization of their condition post-therapy. Furthermore, none of the participants experienced major Fabry-related events such as heart attacks or kidney failure during the five-year follow-up period. However, its important to note that its still an experemental treatment.
Here’s a breakdown of the potential impact:
- Reduced reliance on costly enzyme-replacement therapy.
- Potential stabilization or improvement of organ function.
- Improved quality of life for patients.
- Significant long-term cost savings for healthcare systems.
While gene therapy holds immense promise, it is not without risks. Past instances have been associated with serious side effects, including the development of cancers. However, in this particular study, the reported side effects have been minimal. One patient experienced a drop in white blood cell count following chemotherapy, which is used to prepare the bone marrow for the modified cells. This was successfully treated with antibiotics. Another developed a bruise, possibly linked to the chemotherapy drug.
According to Dr. Ashley Hilchie, senior director of research at Nova Scotia Health, this project offers “new hope” for people with Fabry disease, replacing lifelong treatments with a “potential curative solution.”
“The impact has the potential to be both deeply personal and economically profound, saving lives, improving quality of life and saving millions in health-care costs. This is a perfect example of the importance of research.” said Dr. Hilchie.
Dr. West emphasizes the need for larger-scale studies involving a more diverse patient population, including women, before the treatment can be widely adopted. He envisions a study with 25 to 30 participants over a two-to-three-year period. He also suggests that government research agencies could play a crucial role in developing and owning gene therapies for rare genetic diseases, potentially licensing the treatments to other national health systems.
The prevalence of Fabry disease is relatively high in Nova Scotia, with approximately 100 of the estimated 540 cases in Canada residing in the province. Researchers belive that the genetic mutation can be traced back to a French woman who immigrated to Lunenburg, Nova Scotia, during the colonial era, with her descendents carrying the faulty gene through subsequent generations. The impact of this research could therefore be particularly significant for the province, which boasts strong research institutions.