Rare Disease Report

Fabry Drug Approved in Europe. U.S. Approval Unknown.

JUNE 01, 2016
Ruth J Hickman, MD
The European Commission (EC) has approved the drug Galafold (migalastat) as first-line treatment for adults and adolescents with Fabry disease. The approval will apply to the 38 member European Union (EU) states with final authorization pending in Norway and Iceland.

Meanwhile, the drug is still unavailable in the US, and will be for some time to come.

Fabry disease

In Fabry disease, mutations in the GLA gene cause a deficiency of an enzyme that breaks down certain lipids alpha-galactosidase A (alpha-Gal A). With low levels of functioning alpha-Gal A, these lipids begin to accumulate. This damage multiple system of the body, including the autonomic nervous system, heart, kidneys, and eyes. The progressive symptoms typically begin during childhood or early adolescence. The disease can cause burning sensations, skin blemishes, and gastrointestinal symptoms as well. Individuals with the condition, mostly males, often die prematurely from complications of stroke, heart disease, or kidney failure.
Enzyme replacement therapy via infusion has been available for Fabry disease since 2001. The therapy does not prevent progression of the disease, but it reduces the risk for complications. It is of little or no help in advanced disease.

Galafold (migalastat)

Galafold is an oral drug, a chaperone molecule. This type of drug helps stabilize patient’s naturally occurring enzymes so they can perform their normal function. In the case of Galafold, this means alpha-Gal A. Galafold is only potentially effective for certain types of mutations, however. Developers estimate the drug could be effective for 35% to 50% of Fabry patients who have specific genetic mutations. The drug developer, Amicus Therapeutics, is providing a list of the mutations thought to be treatable with the drug.
Clinical data from two Phase 3 studies and ongoing long-term extension studies helped secure the drug’s approval by the EC.

Excitement in Europe about Approval

Physicians in Europe are looking forward to utilizing this new treatment option in their Fabry patients. “During my 20 years in treating Fabry disease, I am convinced that it is underdiagnosed and that significant unmet need remains among these patients,” stated François Eyskens, MD, PhD, of the University of Antwerp, in a press release, “Galafold is an innovative oral precision medicine with a unique mechanism of action that has demonstrated compelling results in naive and treatment-experienced Fabry patients who have amenable mutations.”
Fabry disease advocates are also excited about the drug’s approval in the EU. “The EU approval of the first oral precision medicine for Fabry disease is a major step forward for patients in Europe,” said the President of the Fabry International Network (FIN). “For the first time in more than a decade, patients with Fabry disease who have amenable mutations now have a choice for an innovative new treatment option.”

Expansion to the US and other countries

Amicus Therapeutics is currently undergoing independent regulatory review in several other countries outside of Europe, including Japan, Australia, and Canada.
The company is hoping to make the drug available in the US as well. The approval process here was stalled last fall. In a pre-NDA meeting, regulators requested further data about the drug which would need more time to be obtained.
The company is expected to meet again with regulators soon to help clarify the best path to potential approval. In a press release, the Chief Executive Officer of Amicus Therapeutics, John F Crowley, said, “Amicus remains committed to making migalastat available to Fabry patients with amenable mutations in the U.S. as rapidly as possible. We are appreciative of the FDA’s ongoing collaboration in this program.”

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