A Multi-Center, Longitudinal Study of the Natural History of Subjects with Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5)
The purpose of this study is to learn about the natural progression of LGMD sarcoglycanopathies (types 2E, 2D, and 2C). Eligible participants will be enrolled and followed for an evaluation period of a minimum of 24 weeks and no longer than 3 years (144 weeks). Retrospective clinical data from the time of symptom onset to the participant enrollment date will be gathered through medical chart review.
During the evaluation period, functional assessments, laboratory assessments, and patient-reported outcomes will be obtained during visits to the clinic. Telephone call visits and/or electronic participant diary collection methods will also occur during the study. In a sub-study, a subgroup of subjects will undergo imaging assessments including skeletal muscle MRI and DEXA scan. In another sub-study, a subgroup of participants will be provided a wearable device to collect daily physical activities.
Principal Investigator: Bill Jacobsen, MD