Longitudinal Assessment and Genetic Understanding of Limb-Girdle Muscular Dystrophy
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Muscular Dystrophies, Limb-Girdle (GENETICALLY CONFIRMED)
- Sponsor
- Wake Forest University Health Sciences
- Enrollment
- 13
- Locations
- 1
- Primary Endpoint
- Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression
- Status
- Completed
- Last Updated
- 4 years ago
Overview
Brief Summary
The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life questionnaires, muscle strength, motor function, routine examination, assessment of patient (or parent) understanding of LGMD, and serum (blood) for growth factors, cytokines, and biomarkers (all parts of your blood). By tracking this information, we hope to be able to understand more about the diagnosis, progression and natural history of this disorder.
Investigators
Eligibility Criteria
Inclusion Criteria
- •You have a GENETICALLY CONFIRMED diagnosis of Limb Girdle Muscular Dystrophy
- •You must be at least 6 years of age or older (if under 18 you will need Parental consent)
- •You must be able to travel to the study site
- •You must be able to provide a DNA/Gene testing report that confirms a diagnosis of LGMD
Exclusion Criteria
- •You or your child do not have a diagnosis of LGMD
- •Your child is under age 6
- •You or your child are not able to travel to the study site
Outcomes
Primary Outcomes
Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression
Time Frame: yearly up to 10 years