Amicus : The FDA approved in February orphan drug status for an orally active, small-molecule drug : AT2101

FDA Orphan Drug Approvals: AT2101

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Ghislaine SURREL

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Yael Waknine

March 2, 2006 — The US Food and Drug Administration (FDA) has approved orphan drug status for amphotericin B inhalation powder in the prevention of pulmonary fungal infections in patients at risk for aspergillosis due to immunosuppressive therapy; a monoclonal antibody for the treatment of new-onset type 1 diabetes mellitus; and an orally active, small-molecule drug for the treatment of Gaucher disease.

Orally Active Orphan Drug (AT2101) for Gaucher Disease

The FDA approved in February orphan drug status for an orally active, small-molecule drug (AT2101, made by Amicus Therapeutics, Inc) in the treatment of Gaucher disease. According to a company news release, the condition affects approximately 10,000 individuals in the developed world.

Gaucher disease is a lysosomal storage disorder related to a deficiency of the key metabolic enzyme glucocerebrosidase (GCase) that leads to cellular accumulation of glucocerebrosidase. Over time, accumulation of these Gaucher cells results in damage to the liver, spleen, bone marrow, and potentially the central nervous system.

In most patients, the enzyme deficiency is caused by a missense mutation that results in protein misfolding and degradation. By binding to GCase, AT2101 acts as a pharmacologic chaperone to restore the enzyme's proper structure and trafficking from the endoplasmic reticulum to the lysosome. Once GCase reaches the lysosome, the chaperone is displaced and enzyme activity is restored.

According to the news release, clinical studies of the drug are expected to begin during the first half of this year.