Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy (LGMD)

Last updated: March 7, 2025
Sponsor: Virginia Commonwealth University
Overall Status: Active - Not Recruiting

Phase

N/A

Condition

N/A

Treatment

N/A

Clinical Study ID

NCT03981289
HM20018721
GRASP-LGMD
  • Ages 4-65
  • All Genders

Study Summary

Limb Girdle Muscular Dystrophy comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. The overall goal of project 1 is to define the key phenotypes as measured by standard clinical outcome assessments (COAs) for limb girdle muscular dystrophies (LGMD) to hasten therapeutic development.

Eligibility Criteria

Inclusion

Inclusion Criteria - Arm 1:

  • Age between 4-65 at enrollment

  • Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)

  • A genetically or functionally confirmed mutation in ANO5, CAPN3, DYSF, DNAJB6 or SGCA-G.

  • Willing and able to give informed consent and follow all study procedures and requirements

Inclusion Criteria - Arm 2:

  • Age between 4-65 at enrollment

  • Clinically affected (defined as weakness on bedside evaluation in either a limb-girdle pattern, or in a distal extremity)

  • a genetically confirmed mutation in SGCA-G

  • Willing and able to give informed consent and follow all study procedures and requirements

Exclusion Criteria - Arm 1:

  • Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.

  • History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant.

  • Positive pregnancy test at time any timepoint during the trial.

Exclusion Criteria - Arm 2:

  • Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator.

  • History of a bleeding disorder, platelet count <50,000, current use of an anticoagulant

  • Positive pregnancy test at time any timepoint during the trial.

Study Design

Total Participants: 80
Study Start date:
June 14, 2019
Estimated Completion Date:
June 30, 2025

Study Description

The genetic heterogeneity has been a barrier to broad natural history efforts, with prior investigations often limited to single gene mutations. Much attention is paid to the variability within individual mutations (e.g. distal presentations), as opposed to defining the best strategy for measuring change in overall LGMD disease burden. This presents a major dilemma for LGMD rare disease research: how to balance diverse genes leading to overlapping phenotypes, versus variants in the same gene leading to divergent phenotypes. What is clear, is as a group, LGMDs are chronic and progressive leading to significant lifetime morbidity and represent a large unmet clinical need.

Recent developments in the investigator's genetic understanding of LGMD and molecular approaches to therapy have led to proposed gene replacement therapies for at least three of the LGMD mutations. Several of these gene replacement therapies are currently in pre-clinical/phase 1 testing, leading to an urgent need for natural history data. In addition, non-specific therapies which target muscle mass or function are being tested in other muscular dystrophies and may prove beneficial for LGMD.

Connect with a study center

  • John Walton Muscular Dystrophy Research Centre (Newcastle Upon Tyne)

    Newcastle,
    United Kingdom

    Site Not Available

  • Newcastle University

    Newcastle,
    United Kingdom

    Site Not Available

  • John Walton Muscular Dystrophy Research Centre (Newcastle upon Tyne)

    Newcastle Upon Tyne,
    United Kingdom

    Site Not Available

  • University of California Irvine

    Irvine, California 92697
    United States

    Site Not Available

  • The University of Colorado Anschutz Medical Campus

    Aurora, Colorado 80045
    United States

    Site Not Available

  • University of Florida

    Gainesville, Florida 32608
    United States

    Site Not Available

  • University of Iowa

    Iowa City, Iowa 52242
    United States

    Site Not Available

  • Kansas University Medical Center

    Kansas City, Kansas 66160
    United States

    Site Not Available

  • University of Kansas Medical Center

    Kansas City, Kansas 66160
    United States

    Site Not Available

  • Kennedy Krieger Institute

    Baltimore, Maryland 21205
    United States

    Site Not Available

  • Brigham and Women's

    Boston, Massachusetts 02115
    United States

    Site Not Available

  • University of Minnesota

    Minneapolis, Minnesota 55455
    United States

    Site Not Available

  • Washington University School of Medicine

    Saint Louis, Missouri 63110
    United States

    Site Not Available

  • Nationwide Children&#39;s Hospital

    Columbus, Ohio 43205
    United States

    Site Not Available

  • Nationwide Children's Hospital

    Columbus, Ohio 43205
    United States

    Site Not Available

  • Virginia Commonwealth University

    Richmond, Virginia 23298
    United States

    Site Not Available

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