Journal article
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
BMC neurology, Vol.24(1), 96
03/15/2024
DOI: 10.1186/s12883-024-03588-1
PMCID: PMC10941356
PMID: 38491364
Abstract
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.
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 and 2 sites in Europe. Enrolled patients will be clinically affected and have mutations in CAPN3 (LGMDR1), ANO5 (LGMDR12), DYSF (LGMDR2), DNAJB6 (LGMDD1), SGCA (LGMDR3), SGCB (LGMDR4), SGCD (LGMDR6), or SGCG (LGMDR5, or FKRP-related (LGMDR9).
To the best of our knowledge, this will be the largest consortium organized to prospectively validate clinical outcome assessments (COAs) in LGMD at its completion. These assessments will help clinical trial readiness by identifying reliable, valid, and responsive outcome measures as well as providing data driven clinical trial decision making for future clinical trials on therapeutic agents for LGMD. The results of this study will permit more efficient clinical trial design. All relevant data will be made available for investigators or companies involved in LGMD therapeutic development upon conclusion of this study as applicable.
Clinicaltrials.gov NCT03981289; Date of registration: 6/10/2019.
Details
- Title: Subtitle
- Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
- Creators
- Amy Doody - Virginia Commonwealth UniversityLindsay Alfano - Nationwide Children's HospitalJordi Diaz-Manera - Newcastle UniversityLinda Lowes - Nationwide Children's HospitalTahseen Mozaffar - University of California, IrvineKatherine D Mathews - University of IowaConrad C Weihl - Washington University in St. LouisMatthew Wicklund - The University of Texas Health Science Center at San AntonioMan Hung - Roseman University of Health SciencesJeffrey Statland - University of Kansas Medical CenterNicholas E Johnson - Virginia Commonwealth UniversityGenetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Consortium
- Resource Type
- Journal article
- Publication Details
- BMC neurology, Vol.24(1), 96
- DOI
- 10.1186/s12883-024-03588-1
- PMID
- 38491364
- PMCID
- PMC10941356
- ISSN
- 1471-2377
- eISSN
- 1471-2377
- Grant note
- 1R21TR003184 / NCATS NIH HHS
- Language
- English
- Date published
- 03/15/2024
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984573827602771
Metrics
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