Fabry Disease: Enzyme Replacement Doesn’t Work for Everyone

According to a story from Fabry Disease News, a recent case study analyzed the situation of two cousins living with Fabry disease who were being treated with enzyme replacement therapy, which is generally considered the best treatment available. Unfortunately, these patients developed neutralizing antibodies which prevented the treatment from working for very long. This study highlights the need for effective alternatives to enzyme replacement.

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.

About Enzyme Replacement Therapy

Enzyme replacement is a useful treatment for a lot of patients and can be successful in slowing the progression of this disease. Patients can see substantial improvements in gastrointestinal symptoms and it can even halt the progression of kidney and heart problems. However, some patients develop antibodies that prevent the therapy’s mechanism from working. 

Study Results

The cousins in the case study had been receiving the treatment for three years before their production of antibodies prevented the therapy from working. They were nine and ten years of age when they started getting the treatment and they were already considered ineligible for Galafold, the other primary treatment method for the illness. The scientists found that the patients began producing antibodies as early as two months from the beginning of treatment, with the level of them increasing over time.

As the treatment declined in effectiveness, pain symptoms returned and the cousins (both boys) also required additional treatment because of infusion site reactions. While their heart and kidney function remained more or less normal during the three year monitoring period after treatment (likely because they were still young), the study highlights the need for new therapies that can help the Fabry disease patients that don’t benefit from the current treatments.

Check out the original study here.


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