Rare Daily Staff

The U.S. Food and Drug Administration today approved Galafold, the first oral medication for the treatment of adults with Fabry disease, a rare genetic disease that results in a buildup of a certain type of fat.

Galafold is indicated for adults with Fabry disease who have a genetic mutation determined to be responsive to treatment with Galafold based on laboratory data. It is the first new therapy approved to treat Fabry disease in the United States in more than 15 years.

Fabry disease is a rare, progressive genetic disorder characterized by a defective GLA gene that causes an enzyme deficiency. This enzyme is responsible for breaking down disease substrate that, when deficient in patients with Fabry disease, builds up in the kidneys, which is one of the organ systems impacted by Fabry disease. Patients with Fabry disease develop slowly progressive kidney disease, enlargement of the heart, abnormal heart rhythm, stroke, and early death.

Treatment of Fabry disease has involved replacing the missing enzyme that causes the particular type of fat, globotriaosylceramide, to build up in the disease. Galafold differs from enzyme replacement in that it increases the activity of the body’s deficient enzyme.

Galafold works by stabilizing the body’s own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenable GLA variants, though amenability rates within this range vary by geography. Galafold is approved in Australia, Canada, European Union, Israel, Japan, South Korea, Switzerland, and the Untied States.

The efficacy of Galafold was demonstrated in a six-month, placebo-controlled clinical trial in 45 adults with Fabry disease. In this trial, patients treated with Galafold over six months had a greater reduction in globotriaosylceramide in blood vessels of the kidneys (as measured in kidney biopsy samples) as compared to patients on placebo. The safety of Galafold was studied in four clinical trials which included a total of 139 patients with Fabry disease.

The most common adverse drug reactions in patients taking Galafold in clinical trials were headache, nasal and throat irritation (nasopharyngitis), urinary tract infection, nausea, and fever (pyrexia).

Galafold was approved using the Accelerated Approval pathway. A further study is required to verify and describe the clinical benefits of Galafold, and Amicus will be conducting a confirmatory clinical trial of Galafold in adults with Fabry disease. Galafold was granted Priority Review and Orphan Drug designations.

“This FDA approval of Galafold is a transformative moment for people in the U.S. 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,” said John Crowley, chairman and CEO of Amicus Therapeutics.

Amicus Therapeutics will launch Galafold immediately and will begin shipping to a limited distribution network in the coming week. Amicus Assist, a service that will provide product assistance and support to patients to help gain access to Amicus Therapeutics’ medications, will also be initiated immediately.

August 13, 2018
Photo: John Crowley, CEO of Amicus Therapeutics