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Ultragenyx Granted Orphan Drug Designation for UX001 SA-ER for the Treatment of Hereditary Inclusion Body Myopathy (HIBM)
Date:10/5/2011

ceived.

About HIBM (Now Also Known as GNE Myopathy) and UX001

HIBM is also known as distal myopathy with rimmed vacuoles (DMRV) and Nonaka disease. To harmonize the naming of this disease, medical experts have now designated the disease to be called "GNE myopathy." GNE is the abbreviation for the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene, which is defective in patients with GNE myopathy. HIBM, or GNE myopathy, is a severe, adult-onset muscle disease caused by a deficiency of an enzyme in the first step of sialic acid biosynthesis needed for the modification of proteins and fats. Patients with HIBM/GNE myopathy typically begin to have weakness and abnormal walking at 18 to 30 years of age. Over the ensuing 10 to 20 years, many patients progressively lose significant functional ability and become wheelchair-bound. There are no current treatments for this disease.

UX001 is an extended release formulation of sialic acid that should allow the maintenance of steady levels of sialic acid after oral administration.  The sialic acid replacement therapy is expected to restore the proper biochemistry of glycoproteins and glycolipids by allowing proper sialylation.  Data from an HIBM/GNE myopathy mouse model show a profound beneficial effect of sialic acid replacement therapy on the biochemistry, pathology and clinical outcomes of HIBM/GNE myopathy mice.

About Ultragenyx

Ultragenyx is a privately held developmental stage biotechnology company committed to bringing life-enhancing therapeutics for patients with rare and ultra-rare genetic diseases, also known as orphan diseases, to market.  The company focuses on metabolic and rare diseases that may affect small numbers of patients, but for which the medical need is high and there are no effective treatments. Ultragenyx intends to build a sustainable pipeline of safe and effective therapies to address these clinically underserved diseases.
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SOURCE Ultragenyx Pharmaceutical Inc.
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