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).
Age between 6-50 years at enrollment
Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with proximal weakness)
Genetic confirmation of a LGMD, DM2, or LOPD
FVC above 30% of predicted
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
Participation in a clinical trial receiving an investigational product
The study seeks to enroll ambulatory individuals aged 6-50 years at enrollment who are clinically affected by LGMD, DM2, or LOPD.
Cohort
Other
Not listed
To explore the suitability and feasibility of the North Star Assessment for LGMD (NSAD) in the muscular dystrophies
The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54.
To explore the utility of the 100 meter timed test as a clinical outcome assessment in the muscular dystrophies
The participant will be asked to complete 4 laps around 2 cones set 25 meters apart, as quickly and safely as possible, walking or running if able. The total time to complete the 4 laps is recorded in seconds.
To explore the utility of the Performance of the Upper Limb 2.0 (PUL 2.0) assessment as a clinical outcome assessment in the muscular dystrophies
The PUL 2.0 is a tool designed for assessing upper limb function in persons with neuromuscular disorders. It was developed as a conceptual framework reflecting the progression of weakness and natural history of functional decline in Duchenne Muscular Dystrophy (DMD). There are 22 scored items; a score of 42 indicates the highest level of independent function and 0 the lowest.
To explore the utility of spirometry as a clinical outcome assessment in the muscular dystrophies
Spirometry is a breathing assessment comprised of: seated and supine forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), and slow vital capacity (SVC). This assessment is performed using standardized equipment.
To explore the utility of the LGMD-HI questionnaire as a patient-reported outcome measure in the muscular dystrophies.
The LGMD Health Index (LGMD-HI) is a disease-specific, patient-reported measure that assesses overall health-related quality of life in LGMD.
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Virginia Commonwealth University
Lead sponsor
Muscular Dystrophy Association
Collaborator
