P.105INCEPTUS pre-phase 1, prospective, non-interventional, natural history run-in study to evaluate subjects aged 4 years and younger with X-linked myotubular myopathy (XLMTM)

XLMTM is a rare disease caused by mutations in the MTM1 gene, leading to profound muscle weakness, respiratory failure and early death. INCEPTUS (NCT02704273) is a prospective, non-interventional study in patients (pts) ≤4 years old to characterize the course and natural history of XLMTM using neuromuscular and respiratory assessments and to identify adverse events (AEs). INCEPTUS will generate within-pt control data to support a Phase 1/2 gene therapy clinical trial (ASPIRO). As of 22MAR19, 32 male pts (0.3-4.6 years of age) have been enrolled and assessed every 3 months for up to 24 months.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: L. Servais, P. Shieh, J. Dowling, N. Kuntz, W. M üller-Felber, B. Smith, C. Bönnemann, F. Muntoni, D. Bilder, T. Duong, R. Graham, M. Jain, M. Lawlor, V. MacBean, M. Noursalehi, T. Pitts, G. Rafferty, S. Rico, S. Prasad Source Type: research