LGMDD1 natural history and phenotypic spectrum: Implications for clinical trials.

ABSTRACT:

Objective

To delineate the full phenotypic spectrum and characterize the natural history of limb girdle muscular dystrophy type D1 (LGMDD1).

Methods

We extracted age at clinical events of interest contributing to LGMDD1 disease burden via a systematic literature and chart review. Manual muscle testing and quantitative dynamometry data were used to estimate annualized rates of change. We also conducted a cross-sectional observational study using previously validated patient-reported outcome assessments (ACTIVLIM, PROMIS-57) and a new LGMDD1 questionnaire. Some individuals underwent repeat ACTIVLIM and LGMDD1 questionnaire assessments at 1.5 and 2.5 years.

Results

A total of 122 LGMDD1 patients were included from 14 different countries. We identified two new variants (p

SUBMITTER: Findlay AR 

PROVIDER: S-EPMC9930420 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature