RECRUITING

LGMD R1 Natural History Study

Conditions

Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A Limb Girdle Muscular Dystrophy Limb Girdle Muscular Dystrophy Type R1 LGMD2A LGMD LGMD R1 CAPN3

Quick Navigation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Official Title

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

Quick Facts

Study Start:2024-01-31

Study Completion:2028-08

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT05618080

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.

Ages Eligible for Study:12 Years to 50 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:CHILD, ADULT

Inclusion Criteria	Exclusion 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.

Inclusion Criteria

Exclusion 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.

Contacts and Locations

Study Contact

Ruby Langeslay

CONTACT

804-828-6318

ruby.langeslay@vcuhealth.org

Jennifer Raymond

CONTACT

jennifer.raymond@vcuhealth.org

Principal Investigator

Nicholas Johnson, MD

PRINCIPAL_INVESTIGATOR

Virginia Commonwealth University

Study Locations (Sites)

University of California, Irvine

Orange, California, 92868

United States

University of Colorado Anschutz Medical Campus

Aurora, Colorado, 80045

United States

University of Florida

Gainesville, Florida, 32610

United States

The Community Health Clinic, Inc.

Shipshewana, Indiana, 46565

United States

University of Iowa Hospitals and Clinics

Iowa City, Iowa, 52242

United States

University of Kansas Medical Center

Kansas City, Kansas, 66160

United States

University of Minnesota, Department of Neurology

Minneapolis, Minnesota, 55455

United States

Washington University School of Medicine

Saint Louis, Missouri, 63110

United States

Nationwide Children's Hospital

Columbus, Ohio, 43205

United States

Virginia Commonwealth University

Richmond, Virginia, 23298

United States

Collaborators and Investigators

Sponsor: Virginia Commonwealth University

Nicholas Johnson, MD, PRINCIPAL_INVESTIGATOR, Virginia Commonwealth University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2024-01-31

Study Completion Date2028-08

Study Record Updates

Study Start Date2024-01-31

Study Completion Date2028-08

Terms related to this study

Keywords Provided by Researchers

LGMD
Limb Girdle Muscular Dystrophy
LGMD R1
LGMD2A
CAPN3

Additional Relevant MeSH Terms

Calpain-3 Deficiency Limb Girdle Muscular Dystrophy Type 2A
Limb Girdle Muscular Dystrophy
Limb Girdle Muscular Dystrophy Type R1
LGMD2A