Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.
Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years Study objectives Primary objective: To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations. Secondary objectives: To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches
Study Type
OBSERVATIONAL
Enrollment
52
Pr John Vissing
Copenhagen, Denmark
Dr Tanya Stojkovic
Paris, France
Pr Volker Straub
Newcastle, United Kingdom
6-Minute Walk Test
Primary endpoint
Time frame: Baseline through 24 months
10-Meter Walk test (10MWT)
Primary endpoint
Time frame: Baseline through 24 months
Timed Up and Go (TUG) test
Primary endpoint
Time frame: Baseline through 24 months
Four-stair climb test
Primary endpoint
Time frame: Baseline through 24 months
North Star Assessment for Neuromuscular Disorders (NSAD)
Scale to assess patient's abilities necessary to remain functionnaly ambulant
Time frame: Baseline through 24 months
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0
Primary endpoint
Time frame: Baseline through 24 months
Recording of aids for ambulation
Primary endpoint
Time frame: Baseline through 24 months
Isokinetic muscle testing using the Biodex System (optional)
Primary endpoint
Time frame: Baseline through 24 months
Pulmonary function test
Primary endpoint
Time frame: Baseline through 24 months
Electrocardiogram
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Time frame: Baseline through 24 months
Echocardiography
Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
Time frame: Baseline through 24 months