3 Clinical Trials for Various Conditions
This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years. Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.
This is a 24-month, observational study of 100 participants with Limb Girdle Muscular Dystrophy type R1, also known as CAPN3.
The purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.