RECRUITING

LGMD R1 Natural History Study

Description

This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.

Conditions

Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2ALimb Girdle Muscular DystrophyLimb Girdle Muscular Dystrophy Type R1LGMD2A
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Related Conditions:

Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2ALimb Girdle Muscular DystrophyLimb Girdle Muscular Dystrophy Type R1LGMD2A

Study Overview

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Study Details

Study overview

This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.

GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1

LGMD R1 Natural History Study

Condition
Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A
Intervention / Treatment

-

Contacts and Locations

Orange

University of California, Irvine, Orange, California, United States, 92868

Aurora

University of Colorado Anschutz Medical Campus, Aurora, Colorado, United States, 80045

Gainesville

University of Florida, Gainesville, Florida, United States, 32610

Shipshewana

The Community Health Clinic, Inc., Shipshewana, Indiana, United States, 46565

Iowa City

University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States, 52242

Kansas City

University of Kansas Medical Center, Kansas City, Kansas, United States, 66160

Minneapolis

University of Minnesota, Department of Neurology, Minneapolis, Minnesota, United States, 55455

Saint Louis

Washington University School of Medicine, Saint Louis, Missouri, United States, 63110

Columbus

Nationwide Children's Hospital, Columbus, Ohio, United States, 43205

Richmond

Virginia Commonwealth University, Richmond, Virginia, United States, 23298

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Age between 12-50 at enrollment
  • 2. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with LGMDR1)
  • 3. Genetic confirmation of LGMDR1 (presence of homozygous or compound heterozygous pathogenic mutations in CAPN3).
  • 4. Must be able to provide written informed consent and be willing and able to comply with all study requirements. Note: Adult participants must be able to provide consent themselves. Legally authorized representatives are not permitted to consent on behalf of adult participants.
  • 1. Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)
  • 2. Non-ambulatory as defined by those who are not able to walk 10 meters without assistive devices (ankle foot orthotics excluded)
  • 3. Positive pregnancy test at any timepoint during the trial
  • 4. Have dominantly inherited CAPN3 mutations (LGMDD4)
  • 5. 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.

Ages Eligible for Study

12 Years to 50 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Virginia Commonwealth University,

Nicholas Johnson, MD, PRINCIPAL_INVESTIGATOR, Virginia Commonwealth University

Study Record Dates

2028-08