Long-Term Development of Muscular Dystrophy Outcome Assessments (GRASP-01-005)
Virginia Commonwealth University
Summary
This is a 24-month, observational study of up to 1000 participants with Limb Girdle Muscular Dystrophy (LGMD), Myotonic Dystrophy Type 2 (DM2), and late onset Pompe disease (LOPD).
Description
Limb Girdle Muscular Dystrophy (LGMD) comprise a group of disorders made up of over 30 mutations which share a common phenotype of progressive weakness of the shoulder and hip girdle muscles. While the individual genetic mutations are rare, as a cohort, LGMDs are one of the four most common muscular dystrophies. Myotonic Dystrophy Type 2 (DM2) is a more recently discovered, rare type of myotonic dystrophy. DM2 is inherited in an autosomal dominant pattern and is caused by an unstable CCTG expansion. DM2 affects the muscles and other body systems (e.g. heart and eyes). Pompe disease is a rare…
Eligibility
- Age range
- 6–50 years
- Sex
- All
- Healthy volunteers
- Not specified
Inclusion Criteria: 1. Age between 6-50 years at enrollment 2. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with proximal weakness) 3. Genetic confirmation of a LGMD, DM2, or LOPD 4. FVC above 30% of predicted Exclusion Criteria: 1. 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 2. Participation in a clinical trial receiving an investigational product
Location
- Virginia Commonwealth UniversityRichmond, Virginia