X-linked myotubular myopathy: A prospective international natural history study.

ABSTRACT:

Objectives

Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.

Methods

We designed an international prospective and longitudinal natural history study in patients with XLMTM and assessed muscle strength and motor and respiratory functions over the first year of follow-up. The humoral immunity against adeno-associated virus serotype 8 was also monitored.

Results

Forty-five male patients aged 3.5 months to 56.8 years were enrolled between May 2014 and May 2017. Thirteen patients had a mild phenotype (no ventilation support), 7 had an intermed

SUBMITTER: Annoussamy M 

PROVIDER: S-EPMC6550499 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature