The U.S. Food and Drug Administration (FDA) approved the treatment in August 2018 under an accelerated approval program for medications that fill an unmet medical need and show likely clinical benefits, but require further studies to verify their potential.
How does Galafold work?
Mutations in the GLA gene are what cause Fabry disease. These mutations lead to an enzyme called alpha-galactosidase A (alpha-gal A) to become non-functional or only partially functional. As a result, fatty substances called globotriaosylceramide (Gb3 or GL-3) and lyso-Gb3 accumulate inside cells, which the enzyme would normally break down. This buildup damages in tissues throughout the body, leading to progressive and irreversible organ damage.
Fabry patients require lifelong treatments to manage the complications of their disease. Enzyme replacement therapy (ERT) with recombinant human alpha-gal A or gene-activated alpha-gal A is the current standard of care for these patients.
Galafold is what scientists call a chaperone therapy, and is the first of this class of medications. It is designed to restore alpha-gal A activity in patients with certain types of mutations. So far, researchers have identified 269 GLA mutations as amenable to Galafold’s use. The medicine does not work in patients with other types of GLA mutations.
Galafold attaches to certain unstable and dysfunctional forms of alpha-gal A, stabilizing the enzyme and partly restoring its activity. This allows the enzyme to go to areas in the cell where it can break down Gb3, reducing the toxic effects that its accumulation cause.
Galafold in clinical trials
Researchers evaluated Galafold in two Phase 3 clinical trials covering 135 people with Fabry disease.
The FACETS trial (NCT00925301) assessed the safety and effectiveness of Galafold in 67 patients with Fabry disease. A key measure of effectiveness was a reduction of at least 50% in Gb3 deposits in patients’ kidneys. The key finding was that patients with amenable mutations responded to Galafold after six months of treatment.
Amicus’ other Phase 3 study, ATTRACT (NCT01218659), evaluated Galafold’s safety and effectiveness in 68 Fabry disease patients who had been on ERT. The main measure of effectiveness was improvements in patients’ kidney function after 18 months of treatment. The key finding was that Galafold was as effective as ERT in stabilizing kidney function.
Last updated: July 15, 2020
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