LGMD R1 Natural History Study

NCT05618080 | Recruiting DMC

• 3 other identifiers: HM20025359Limb-Girdle Muscular DystrophyGRASP-R1
• Study Type: observational
• Target: 100
• Locations: 3 countries
• Sites: 12

Brief Summary

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 2A; Limb Girdle Muscular Dystrophy; Limb Girdle Muscular Dystrophy Type R1; LGMD2A

Keywords

LGMD; Limb Girdle Muscular Dystrophy; LGMD R1; LGMD2A; CAPN3

Outcome Measures

Primary Outcomes (1)

• Validate the NSAD as a clinical outcome assessment in LGMD R1

  The North Star Assessment for Dysferlinopathy (NSAD) is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities.

  Baseline to 24 months

Secondary Outcomes (1)

• Validate muscle fat fraction as a biomarker

  Baseline to 12 months

Other Outcomes (11)

• Change in mobility (100-meter walk)

  Baseline to 24 months

• Change in Forced vital capacity (FVC)

  Baseline to 24 months

• Change in Forced expiratory volume (FEV1)

  Baseline to 24 months

Study Arms (1)

LGMD Type R1/LGMD2A/CAPN3

No intervention will be administered.

Eligibility Criteria

• Age: 12 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

The study population includes ambulatory individuals aged 12-50 at enrollment who are clinically affected by and have genetic confirmation of LGMDR1.

You may qualify if:

• Age between 12-50 at enrollment
• Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with LGMDR1)
• Genetic confirmation of LGMDR1 (presence of homozygous or compound heterozygous pathogenic mutations in CAPN3).
• 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.

You may not qualify if:

• Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)
• Non-ambulatory as defined by those who are not able to walk 10 meters without assistive devices (ankle foot orthotics excluded)
• Positive pregnancy test at any timepoint during the trial
• Have dominantly inherited CAPN3 mutations (LGMDD4)
• 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.

Sponsors & Collaborators

• Virginia Commonwealth University: lead
• Nationwide Children's Hospital: collaborator
• Washington University School of Medicine: collaborator
• University of Iowa: collaborator
• University of Florida: collaborator
• University of Minnesota: collaborator
• Newcastle University: collaborator
• University of Kansas Medical Center: collaborator
• University of Colorado, Denver: collaborator
• Indiana CHC (Community Health Clinic): collaborator
• University of California, Irvine: collaborator

Study Sites (12)

University of California, Irvine

Orange, California, 92868, United States

RECRUITING

University of Colorado Anschutz Medical Campus

Aurora, Colorado, 80045, United States

RECRUITING

University of Florida

Gainesville, Florida, 32610, United States

NOT YET RECRUITING

The Community Health Clinic, Inc.

Shipshewana, Indiana, 46565, United States

RECRUITING

University of Iowa Hospitals and Clinics

Iowa City, Iowa, 52242, United States

RECRUITING

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

RECRUITING

University of Minnesota, Department of Neurology

Minneapolis, Minnesota, 55455, United States

RECRUITING

Washington University School of Medicine

St Louis, Missouri, 63110, United States

RECRUITING

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

RECRUITING

Virginia Commonwealth University

Richmond, Virginia, 23298, United States

RECRUITING

Leiden University Medical Center

Leiden, Netherlands

NOT YET RECRUITING

Newcastle University

Newcastle upon Tyne, United Kingdom

NOT YET RECRUITING

Related Publications (23)

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Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be taken for biomarker development and retained for future research. No clinical diagnosis will be given to patients.

MeSH Terms

Conditions

Limb-girdle muscular dystrophy type 2A; Muscular Dystrophies, Limb-Girdle

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Nicholas Johnson, MD

  Virginia Commonwealth University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ruby Langeslay

CONTACT

804-828-6318; ruby.langeslay@vcuhealth.org

Jennifer Raymond

CONTACT

jennifer.raymond@vcuhealth.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 9, 2022
• First Posted: November 16, 2022
• Study Start: January 31, 2024
• Primary Completion (Estimated): May 1, 2028
• Study Completion (Estimated): August 1, 2028
• Last Updated: June 8, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

NL (1); US (10); GB (1)