Fabry disease is a rare genetic disease caused by mutations in the GLA gene. The GLA gene provides instructions to build the alpha-galactosidase A enzyme, which breaks down a fat molecule called globotriaosylceramide (Gb3). Fabry disease patients don’t make enough functional alpha-galactosidase A. As a consequence, Gb3 cannot be broken down and accumulates in various tissues causing damage.
There is currently no cure for Fabry disease. However, there are approved medications that work by restoring the activity of alpha-galactosidase A enzyme, preventing organ damage and improving patients’ quality of life.
Fabrazyme (agalsidase beta), developed by Sanofi Genzyme, is the first treatment specifically developed for Fabry disease. It was approved by the U.S. Food and Drug Administration in 2003. In the European Union, the use of Fabrazyme for the treatment of Fabry disease is authorized by the European Medicines Agency.
Fabrazyme contains agalsidase beta, which is an alpha-galactosidase A enzyme made in the laboratory. It is identical to the naturally occurring alpha-galactosidase A enzyme and helps Fabry disease patients break down Gb3.
Galafold (migalastat) is another medication that can be used to treat some people with Fabry disease. It was developed by Amicus Therapeutics and approved under the FDA’s accelerated approval program in August 2018. The accelerated approval pathway is for medications that fill an unmet medical need and that have shown likely clinical benefits to patients but require further studies to verify its potential.
Galafold acts as a chaperone that binds to the faulty alpha-galactosidase A enzyme and helps it fold into the normal conformation, making it functional.
There are several mutations in the GLA gene that can result in the production of misfolded and nonfunctional alpha-galactosidase A enzyme. Galafold only binds to specific mutant forms of the alpha-galactosidase A enzyme, so-called amenable mutations, and therefore is not effective in all Fabry patients. Of 850 known GLA mutations causing Fabry disease, 269 have been categorized as amenable.
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