Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints.

ABSTRACT:

Objective

Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort across 6 years.

Methods

Twenty-three participants with LGMD R9, previously assessed over a 1-year period, were re-enrolled at 6 years. Standardized functional assessments were performed including: myometry, timed tests, and spirometry testing. Quantitative MRI was used to measure fat fraction in lower limb skeletal muscle groups.

Results

At 6 years, all 14 muscle groups assessed demonst

SUBMITTER: Murphy AP 

PROVIDER: S-EPMC6562036 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature