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news.Amicus Therapeutics experimental, oral therapy for the treatment of Gaucher disease, AT2101, has received orphan drug designation from the FDA.
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Gaucher disease is a lysosomal storage disorder resulting from an enzyme deficiency that can cause damage to the liver, spleen, bone marrow and in some cases, the central nervous system.
The disease affects approximately 10,000 people in the developed world. Orphan drug designation provides extended marketing rights and other incentives to support and encourage development of drugs that affect fewer than 200,000 people annually in the US.
AT2101 acts as a pharmacological chaperone that binds to glucocerebrosidase (GCase), the enzyme involved in Gaucher disease. In most Gaucher patients, the GCase deficiency is caused by a missense mutation, which results in the misfolding and degradation of the protein. As a pharmacological chaperone, AT2101 binds specifically to the misfolded protein, which in turn restores proper structure, trafficking and biological activity.
AT2101 is expected to enter clinical studies in the first half of this year.