Rare Disease Report

Gene Therapy for Fabry Disease Now a Reality

FEBRUARY 17, 2017
James Radke
The first person with Fabry disease has been treated using gene therapy. The news came in a press release from Calgary, Alberta, thousands of miles away from San Diego where researchers attended the WORLDSymposium were showing off the latest research in lysosomal diseases, including Fabry disease.
Fabry disease is a genetic lysosomal disorder in which patients have a dysfunctional enzyme, alpha galactosidase A (a-GAL A) that leads to a buildup of GbB3 in the body. A buildup of Gb3 can lead to problems throughout the body.
The current treatment for Fabry disease is biweekly infusions of enzyme replacement therapy but that does not stop the progression of the disease completely. 

Researchers in Calgary collected the Fabry patient’s own blood stem cells then replaced the faulty gene with functional genes that can produce a-GAL A.
The altered stem cells were then transplanted back into the patient on January 11, 2017.

Investigators Cautiously Optimistic

Dr. Aneal Khan of the Alberta Children’s Hospital Research Institute, Cumming School of Medicine, University of Calgary said, “It’s too soon to say whether this therapy will ultimately be a long-term treatment for Fabry disease but, based on the success of animal trials, we are hopeful there will be a benefit to patients.”
Dr. Jeffrey Medin, a researcher with the Medical College of Wisconsin and the project’s principal investigator, said it is too early to determine if the gene therapy is a success but they are cautiously optimistic. Dr Medin said, “This experimental trial nevertheless marks a major step forward in treating inherited genetic diseases in adults,” adding, “It is very promising that we were able to engineer the complex logistics of such a trial and that the procedure itself seems to have been well-tolerated.”

 48-Year-Old Patient Happy To Advance Science

And the patient himself, 48-year-old Calgary resident Darren Bidulka is grateful that he no longer has to do the biweekly infusions. Biduilsa said,  “A long-term treatment for Fabry disease would be fantastic, but I don’t want to create any false hopes for myself or others at this preliminary stage,” Bidulka added, “If my involvement in the research helps shed more light on the disease and brings doctors closer to an ultimate cure, then it will have been worth it.”

About Fabry Disease

In Fabry disease, mutations in the GLA gene cause a deficiency of an enzyme alpha-Gal A that breaks down certain lipids.  With low levels of functioning alpha-Gal A, these lipids begin to accumulate.

Multiple system of the body are affected, including the autonomic nervous system, heart, kidneys, and eyes. The progressive symptoms typically begin during childhood or early adolescence. The disease can cause burning sensations, skin blemishes, and gastrointestinal symptoms as well. Individuals with the condition, mostly males, often die prematurely from complications of stroke, heart disease, or kidney failure.
Enzyme replacement therapy via infusion has been available for Fabry disease since 2001. The therapy does not prevent progression of the disease, but it reduces the risk for complications. It is of little or no help in advanced disease.

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