CHAR0312: Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping

Principal Investigator: Kathryn Wagner

The purpose of this research is to collect blood and skin samples from Duchenne Muscular Dystrophy (DMD) patients ages 4 years and above with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs. Exon Skipping is a potential therapy that is being developed for patients with DMD. We are interested  in studying several specific changes in the dystrophin gene that would work with exon skipping therapies for exons 45,51, and 53. The blood and skin samples will be stored in a tissue bank at the Carolinas Medical Center for future DMD research. The Carolinas Medical Center is a participating center in the Cooperative International Neuromuscular  Research Group (CINRG). CINRG is a network of hospital centers around the world performing research in neuromuscular diseases.