Gene expression and proteomic profiling in blood of patients with laminin alpha-2 deficiency and other congenital muscular dystrophies; A biomarker study.
Patient information will be identified by codes and the name will not appear on samples or data sheets. Samples will be obtained from patients in an outpatient setting at CMCD (24 ml total blood withdrawn for this study not to exceed greater than 5% total estimated blood volume). All subjects will have blood and urine collected at one time only during the study.This one time evaluation will include a history and physical examination. Samples will be processed according to standardized protocols. Once obtained, samples will be processed and analyzed at Cincinnati Children[Single Quote]s Hospital Research Foundation (CHRF).
Subjects must meet the following criteria (1) age: 0 months to 18 years of age; (2) male or female (3) genetically confirmed MDC1A. (4) subjects must not be on any type of glucocorticosteroid, antioxidant, or antiepileptic medication.
The study will be expanded to include all CMD types, 2) CMD patients need to be confirmed by muscle biopsy and/or genetic tests, 3) ages will be expanded to include all ages (patients with BM may not present until adulthood).