The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurological Disorders and Stroke (NINDS) are launching a five-year, $7.5 million natural history study of Duchenne muscular dystrophy (DMD), a degenerative genetically-linked neuromuscular disease. The study aims to validate non-invasive approaches to monitor the progression and treatment of DMD, and holds potential to facilitate the development of promising new therapies for people with the disease.

Duchenne muscular dystrophy is characterized by the lack of the protein dystrophin, resulting in progressive muscle weakness, loss of walking ability and premature death. The disease primarily affects boys, although girls and women who carry the defective dystrophin gene may show some symptoms. Despite the severity of the disease, therapeutic interventions are lacking.

Building upon the findings of studies in animals, Krista Vandenborne, P.T., Ph.D., will head a multicenter, longitudinal, observational study in boys with DMD. Investigators will determine whether information obtained from lower limb skeletal muscle magnetic resonance imaging (MRI) and spectroscopy (MRS) correlates with measures of patient physical function during the progression and treatment of the disease. In using MR technologies, the investigators hope to develop non-invasive, sensitive, quantitative measures of muscle structure and composition that can be used to determine whether new treatments are having a positive effect in boys with DMD. These MR tests could also be used in the design of clinical trials for other muscle diseases.

Three clinical sites have been selected (University of Florida, Oregon Health & Science University and Children’s Hospital of Philadelphia) and one laboratory site (University of Pennsylvania). Investigators plan to enroll a total of 100 boys with DMD and 50 controls across the three clinical sites. Boys ages 5-14 will begin corticosteroid treatment as the standard of care, and MRI/MRS will be repeated in yearly or six- month intervals. Cell lines from study participants will be banked to facilitate future genetic analysis and other studies.

For more information on Duchenne Muscular Dystrophy, go to: http://www.ninds.nih.gov/disorders/md/md.htm.

The mission of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a part of the U.S. Department of Health and Human Services’ National Institutes of Health, is to support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. For more information about NIAMS, call the information clearinghouse at (301) 495-4484 or (877) 22-NIAMS (free call) or visit the NIAMS Web site at http://www.niams.nih.gov.

NINDS is the nation's leading funder of research on the brain and nervous system. The NINDS mission is to reduce the burden of neurological disease – a burden borne by every age group, by every segment of society, by people all over the world. For more information about the research funded and supported by the NINDS, please visit the NINDS website at www.ninds.nih.gov or contact the Institute’s Brain Resources and Information Network (BRAIN) at: (800) 352-9424.