Amicus Therapeutics’ Galafold has been approved in the US as the first oral medication for the treatment of adults with Fabry disease.

Doctors can now prescribe the drug for adults with the condition who have a genetic mutation determined to be responsive to treatment with Galafold based on lab data.

Fabry disease is a rare and serious genetic disease that results from buildup of a type of fat called globotriaosylceramide (GL-3) in blood vessels, the kidneys, the heart, the nerves and other organs, caused by a non-functional or only partially functional enzyme called alpha-galactosidase A (alpha-gal A).

Patients develop slowly progressive kidney disease, cardiac hypertrophy, arrhythmias, stroke and early death.

Galafold is an oral, small molecule drug designed to bind to alpha-gal A as it is made, helping it to fold correctly and improving its function.

The drug’s efficacy was shown in a six-month, placebo-controlled clinical trial in 45 adults with Fabry disease, in which those treated with Galafold over six months had a greater reduction in GL-3 in blood vessels of the kidneys than patients given a placebo.

Galafold was approved using the Accelerated Approval pathway, which allows the US Food and Drug Administration to approve drugs for serious conditions where there is an unmet medical need if a treatment drug is shown to have certain effects reasonably likely to predict a clinical benefit.

A further study is needed to verify and describe the clinical benefits of Galafold in Fabry disease, the regulator noted.

“This FDA approval of Galafold is a transformative moment for people in the US living with Fabry disease, as it gives adult patients with amenable GLA variants a new treatment option for the first time in more than 15 years,” noted chairman and chief executive John Crowley.