The Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers (MDCRC) were established to promote basic, translational and clinical research on muscular dystrophy. As nationally recognized centers of excellence in muscular dystrophy (MD) research, they strengthen the MD community by training and educating next generation clinicians and researchers, promoting innovative and cross-disciplinary collaborations and establishing national resource laboratories. The UNC MDCRC's goal is to bring novel cell and gene based therapies to the Duchenne Muscular Dystrophy (DMD) patient community through Phase I clinical trials and complementary basic research studies.

DMD affects approximately 1 out of 3,500 males, and there is currently no treatment available to halt or reverse progression of the disease. It is characterized by rapid and progressive muscle degeneration, leading to loss of ambulation and life-threatening heart and respiratory conditions. Most DMD patients survive into their 20s or early 30s. The disease is caused by a mutation in the gene that encodes for the dystrophin protein, which plays an important structural role in muscle fiber membranes. When dystrophin is missing or non-functional, the entire complex is compromised, leading to degeneration of muscle tissue. The foundation of our research is to correct this mutation by delivering Dr. Xiao's mini-dystrophin gene via Dr. Samulski's newly engineered AAV vector.

Led by Drs. Samulski and Xiao, UNC has partnered with the MDA to initiate the first clinical trial for gene based DMD therapy. Preliminary results from this ongoing intramuscular (IM) safety study support further clinical trials targeting isolated muscle groups. The primary focus of the UNC MDCRC is to safely transition from IM injection studies to treating specific muscle groups with isolated limb profusion.

The UNC MDCRC brings together a highly interactive group of experienced clinical investigators, expert basic laboratories and large animal models for DMD. Our Center is composed of 3 research projects and 4 cores and is conducted at UNC and the University of Wisconsin-Madison.