XLMTMX-Linked Myotubular Myopathy
Copyright 1988-2018 AcronymFinder.com, All rights reserved.
References in periodicals archive ?
in Neuromuscular Disorders indicated that incidence of XLMTM may be up to 1 in 40,000 live male births, a 20% increase over earlier reports.
AT132 is the Audentes product candidate being developed to treat XLMTM, a disease caused by mutations in the MTM1 gene, which encodes the protein myotubularin.
Over the course of 2018, Audentes has reported promising safety, efficacy and muscle biopsy data from ASPIRO, a multicenter, ascending dose Phase 1/2 clinical study to evaluate the safety and preliminary efficacy of AT132 in approximately 12 XLMTM patients less than five years of age.
Audentes has three products in development, AT001 for the treatment of X-Linked Myotubular Myopathy (XLMTM), AT002 for the treatment of Pompe disease, and AT003 for the treatment of the CASQ2 subtype of Catecholaminergic Polymorphic Ventricular Tachycardia (CASQ2-CPVT).