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news.US-based Audentes Therapeutics has received orphan drug designation from the FDA and the European Medicines Agency (EMA) for its AT001, an investigational product being developed to treat X-Linked Myotubular Myopathy (XLMTM), a rare, severe, inherited disorder.
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AT001 is developed based on adeno-associated virus (AAV) gene therapy technology that is designed to restore the ability of skeletal muscle to produce myotubularin.
XLMTM affects skeletal muscles from birth and is caused by mutations in the MTM1 gene that encodes an enzyme called myotubularin, which plays a major role in the development, maintenance and function of muscle cells.
It is characterized by debilitating muscle weakness, respiratory impairment and early mortality and affects approximately one in 50,000 newborn males across the world.
The company noted that administration of AT001 has resulted in improved muscle strength and survival in a murine model of XLMTM as well as improved muscle strength, respiratory symptoms and survival in a canine model of the disease.