Fabry Disease: Gene Therapy Shows Promising Results

According to a story from BioPharma Dive, gene therapy for Fabry disease is still in its early stages of development. However, it is already beginning to show potential as a game-changing therapy for people living with this rare disease. The biotech company Avrobio is operating a clinical trial, and one patient has shown no signs of the toxin that accumulates in the cells of patients a year after receiving the treatment.

About Fabry Disease

Fabry disease is a rare genetic disorder that primarily affects the heart, skin, and kidneys. As a lysosomal storage disease, it is characterized by a deficiency in the enzyme responsible for processing sphingolipids, which accumulate in the body as a result. The disorder is caused by mutations of the GLA gene. Symptoms include pain (which can affect the extremities, the entire body, or the digestive tract), kidney dysfunction, abnormalities of the heart valve and heart rhythms, fatigue, inability to sweat, and angiokeratomas (small red dots that appear on the skin). Treatments include enzyme replacement therapy, treatments to address organ-specific problems, and Galafold. Galafold is effective in roughly 50 percent of patients and only works for patients with certain types of mutations. Enzyme replacement therapy can help partially halt or reverse disease progression. To learn more about Fabry disease, click here.

Hope for the Future

Gene therapy has become a hot topic in the field of rare genetic disease, and there are multiple companies that are working in developing them, with a small number having already been approved for use. In terms of Fabry disease, the trials are still small and in the early stages. While the disease can be treated, there is still a need for better approaches as treatment is time-consuming and can’t hold off disease progression indefinitely.

Gene Therapy Approaches

Possible gene therapy approaches include using a patient’s own stem cells, which are modified in the lab setting with an engineered virus that delivers fixed copies of the affected gene to these cells. These altered cells are then reintroduced to the patient’s body. Another approach directly infuses corrected copies of the gene into the patient using adeno-associated viruses (AAV) as a delivery system. Hopefully, these will be single-administration treatments.

Avrobio intends to start a late-stage trial in the middle of next year, and several other companies are not far behind. Overall, the results of these studies could have a real impact on outcomes in Fabry disease.

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