Rare Daily Staff

Amicus Therapeutics said it submitted a new drug application to the U.S. Food and Drug Administration to seek approval for its therapeutic migalastat for the treatment of patients 16 years and older with Fabry disease with amenable mutations.

Fabry disease is a progressive, inherited lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A as a result of mutations in the GLA gene. The disease causes accumulation of certain types of lipids in tissues including the heart, kidneys, central nervous system, and skin. This abnormal accumulation can cause serious complications including pain, kidney failure, heart disease, and stroke.

Migalastat is a first-in-class chaperone therapy approved in the European Union as a monotherapy for Fabry disease in patients with amenable mutations. Migalastat works by stabilizing the body’s own dysfunctional enzyme, so it can clear the accumulation of disease substrate in patients who have amenable mutations. 

A proprietary in vitro assay has been used to classify more than 1,000 known GLA mutations as “amenable” or “not amenable” to treatment with migalastat. An estimated 3,000 people in the United State are currently diagnosed with Fabry disease, more than any other country. About 35 percent to 50 percent of Fabry patients globally have amenable mutations.

Migalastat previously received both Orphan Drug Designation and Fast Track designation from the FDA.

Migalastat is already approved in the European Union, Switzerland, Israel, Australia and Canada, with regulatory submissions under review in Japan and additional geographies.

December 14, 2017

Photo: John Crowley, CEO of Amicus Therapeutics

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