Muscular Dystrophies, Limb-Girdle (GENETICALLY CONFIRMED)
Conditions
Keywords
GENETICALLY CONFIRMED limb girdle muscular dystrophy
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.
Interventions
None listed
Sponsors
Muscular Dystrophy Association
Wake Forest University Health Sciences
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
6 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression | yearly up to 10 years |
Countries
United States
Outcome results
None listed