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Audentes Therapeutics Receives Orphan Drug Designation for AT001 for the Treatment of X-Linked Myotubular Myopathy in the US and Europe

2.8 from 6 votes
Wednesday, August 26, 2015

SAN FRANCISCO, CA – Audentes Therapeutics, Inc., a biotechnology company committed to the development and commercialization of gene therapy products for patients with serious, rare diseases, today announced that AT001, an investigational product in development for the treatment of X-Linked Myotubular Myopathy (XLMTM), has been granted orphan designation by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA).

XLMTM is a rare, severe, inherited disorder that affects skeletal muscles from birth. The disease is caused by mutations in the MTM1 gene, which encodes an enzyme called myotubularin. Myotubularin plays an important role in the development, maintenance and function of muscle cells. XLMTM is characterized by debilitating muscle weakness, respiratory impairment and early mortality and affects approximately 1 in 50,000 newborn males worldwide. There is no available treatment for the condition.

AT001 is a novel product based on adeno-associated virus (AAV) gene therapy technology that is designed to restore the ability of skeletal muscle to produce myotubularin. Administration of AT001 has resulted in improved muscle strength and survival in a murine model of XLMTM (Buj-Bello et al, Human Molecular Genetics, 2008, Vol. 17: 2132-2143 ; Buj-Bello et al, Molecular Therapy, 2013, 21:sup 1, S14) as well as improved muscle strength, respiratory symptoms and survival in a canine model of the disease (Childers et al., Sci Transl Med 22 January 2014 6:220ra10).

The FDA and EMA Orphan Drug programs provide orphan designation to drugs and biologics that are intended for the treatment of rare diseases (those affecting fewer than 200,000 people in the United States or 5 in 10,000 in the EU). The designation provides sponsors with development and commercial incentives including, seven years of market exclusivity in the US, 10 years of market exclusivity in the EU, consultation by FDA and EMA on clinical study design, and certain fee exemptions and reductions.

About Audentes Therapeutics, Inc.
Audentes is a biotechnology company committed to the development and commercialization of innovative new treatments for people with serious, rare diseases through the application of AAV gene therapy technology. We have two products in development, AT001 for the treatment of X-Linked Myotubular Myopathy (XLMTM) and AT002 for the treatment of Pompe disease. Our team consists of a focused, experienced, and passionate individuals committed to forging strong, global relationships with the patient, research, and medical communities. We are developing AT001 in collaboration with Genethon (

Audentes Therapeutics, Inc.
Jeffrey Gruis

Source: Audentes Therapeutics, Inc.
2.8 from 6 votes
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