Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study.

ABSTRACT:

Background

The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders.

Methods/design

The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes. We will perform a multi-center, 12-month study of 188 LGMD patients within the established Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Research Consortium, which is comprised of 11 sites in the United States

SUBMITTER: Doody A 

PROVIDER: S-EPMC10602119 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature