In addition to approved therapies, scientists are looking at a number of experimental approaches for treating the disease. They would need regulatory approval before patients could use them.
Enzyme replacement therapy
The primary enzyme replacement therapy for Fabry disease is an approved treatment called Fabrazyme. It contains agalsidase beta, a copy of the enzyme alpha-galactosidase A that patients are missing.
In the absence of this enzyme, fatty molecules called globotriaosylceramide (Gb3 or GL-3), which alpha-galactosidase normally breaks down, build up inside cells and cause damage.
PRX-102 is an enzyme replacement therapy similar to Fabrazyme. It is a copy of the human enzyme alpha-galactosidase A, but it is produced in genetically modified plant cells, then chemically modified. The manufacturer, Protalix Biopharmaceuticals, says this makes the enzyme molecule more active and stable than the active ingredient in Fabrazyme. This medication is in Phase 3 clinical trials.
Another medication under development is Migalastat, a chaperone therapy that patients take orally rather than by injection, like enzyme replacement therapy. Many Fabry disease patients make some alpha-galactosidase A, but because of a genetic mutation, the enzyme is not delivered to where it is needed in the cell — a structure called a lysosome.
Migalastat binds to the patient’s alpha-galactosidase A, stabilizes it and helps get it to the lysosome. The European Union has approved the treatment, but it has yet to be approved in the U.S. The U.S. Food and Drug Administration has agreed to give it priority regulatory review, however.
A Canadian became the first person with Fabry disease to be treated with gene therapy in February 2017. Researchers harvested blood stem cells from the patient, then used genetic engineering to generate a healthy copy of the GLA gene and return it to his body.
The gene provides instructions for making the alpha-galactosidase A enzyme. Gene therapy has been successful in animals, allowing them to make their own alpha-galactosidase A enzyme. It is too soon to tell whether it can be used as a routine treatment for humans.
Sangamo Therapeutics is working on a gene editing treatment whose aim is to increase Fabry disease patients’ production of alpha-galactosidase A. This treatment is still in preclinical-trial stages of development, and little has been published on it.
Substrate reduction therapy
Venglustat, also known as GZ/SAR402671, is an oral treatment for Fabry disease. It blocks a step in the chemical process that forms Gb3, the fatty molecule that patients’ bodies are unable to break down.
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