Observational study of Limb Girdle Muscular Dystrophy type R1
GRASP-01-003: Trial Readiness and Endpoint Assessment in LGMD R1
This study will follow 100 people with Limb Girdle Muscular Dystrophy type R1 for two years to see how the disease progresses and gather information that could help develop new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 12 Years to 50 Years |
| Sex | All |
| Sponsor | Virginia Commonwealth University Academic / other |
| Locations | 12 sites (Orange, California and 11 other locations) |
| Trial ID | NCT05618080 on ClinicalTrials.gov |
What this trial studies
This observational study will follow 100 participants diagnosed with Limb Girdle Muscular Dystrophy type R1 (LGMD2A) over a 24-month period. The study aims to gather comprehensive data on the natural history of the disease, including identifying biomarkers and clinical outcome assessments to aid in future therapeutic developments. Participants will undergo various assessments, including MRI scans, to monitor disease progression and muscle function. The findings will help inform the design of clinical trials for potential treatments.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 12-50 who have a confirmed diagnosis of LGMD type R1 and exhibit clinical symptoms of the condition.
Not a fit: Patients who are non-ambulatory or have contraindications to MRI will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights that lead to the development of effective therapies for LGMD2A.
How similar studies have performed: While there have been successful studies in related muscular dystrophies, this specific natural history study for LGMD type R1 is novel and aims to fill a critical gap in clinical trial preparedness.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion 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. Exclusion Criteria: 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.
Where this trial is running
Orange, California and 11 other locations
- University of California, Irvine — Orange, California, United States (Recruiting)
- University of Colorado Anschutz Medical Campus — Aurora, Colorado, United States (Recruiting)
- University of Florida — Gainesville, Florida, United States (Not_yet_recruiting)
- The Community Health Clinic, Inc. — Shipshewana, Indiana, United States (Recruiting)
- University of Iowa Hospitals and Clinics — Iowa City, Iowa, United States (Recruiting)
- University of Kansas Medical Center — Kansas City, Kansas, United States (Recruiting)
- University of Minnesota, Department of Neurology — Minneapolis, Minnesota, United States (Recruiting)
- Washington University School of Medicine — St Louis, Missouri, United States (Recruiting)
- Nationwide Children's Hospital — Columbus, Ohio, United States (Recruiting)
- Virginia Commonwealth University — Richmond, Virginia, United States (Recruiting)
- Leiden University Medical Center — Leiden, Netherlands (Not_yet_recruiting)
- Newcastle University — Newcastle upon Tyne, United Kingdom (Not_yet_recruiting)
Study contacts
- Principal investigator: Nicholas Johnson, MD — Virginia Commonwealth University
- Study coordinator: Ruby Langeslay
- Email: ruby.langeslay@vcuhealth.org
- Phone: 804-828-6318
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.