INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.

ABSTRACT:

Background

X-linked myotubular myopathy (XLMTM) is a life-threatening congenital myopathy that, in most cases, is characterized by profound muscle weakness, respiratory failure, need for mechanical ventilation and gastrostomy feeding, and early death.

Objective

We aimed to characterize the neuromuscular, respiratory, and extramuscular burden of XLMTM in a prospective, longitudinal study.

Methods

Thirty-four participants < 4 years old with XLMTM and receiving ventilator support enrolled in INCEPTUS, a prospective, multicenter, non-interventional study. Disease-related adverse events, respiratory and motor function, feeding, secretions, and quality of life were assessed.

Results

During median (range) follow-up of 13.0 (0.5, 32.9) months, there were 3 deaths (aspi

SUBMITTER: Dowling JJ 

PROVIDER: S-EPMC9398079 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature