Audentes is developing AT132 for the treatment of X-Linked Myotubular Myopathy.
X-linked Myotubular Myopathy (XLMTM) is a serious, life-threatening, rare neuromuscular disease that is characterized by extreme muscle weakness, respiratory failure and early death. Mortality rates are estimated to be 50 percent in the first 18 months of life, and for those patients who survive past infancy, approximately 75 percent will live to the age of 10. XLMTM is caused by mutations in the MTM1 gene that lead to a lack or dysfunction of myotubularin, a protein that is needed for normal development, maturation, and function of skeletal muscle cells. The disease affects approximately 1 in 40,000 to 50,000 newborn males.
XLMTM places a substantial burden on the healthcare system, including high rates of healthcare utilization, hospitalization and surgical intervention. More than 80 percent of XLMTM patients require ventilator support, and the majority of patients require a gastrostomy tube for nutritional support. In most patients, normal developmental motor milestones are delayed or never achieved. Currently, only supportive treatment options, such as ventilator use or a feeding tube, are available.
Audentes is developing the novel product candidate AT132, an AAV8 vector containing a functional copy of the MTM1 gene, for the treatment of XLMTM.
To date, Audentes has reported promising safety, efficacy and muscle biopsy data from ASPIRO, an ongoing, multicenter, ascending dose Phase 1/2 clinical study designed to evaluate the safety and efficacy of AT132. The preclinical development of AT132 was conducted in collaboration with Genethon.
AT132 has been granted Regenerative Medicine and Advanced Therapy (RMAT), Rare Pediatric Disease, Fast Track and Orphan Drug designations by the U.S. Food and Drug Administration (FDA), and Priority Medicines (PRIME) and Orphan Drug designations by the European Medicines Agency (EMA).