NIAMS, NINDS announce 5-year, $7.5M natural history study of Duchenne muscular dystrophy

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 (Duchenne), a degenerative genetically-linked neuromuscular disease. The study aims to validate non-invasive approaches to monitor the progression and treatment of Duchenne, and holds potential to facilitate the development of promising new therapies for people with the disease.

Heading up the study will be Krista Vandenborne, P.T., Ph.D., Chair of the Physical Therapy Department at the University of Florida. Dr. Vandenborne was the recipient of an End Duchenne Grant from Parent Project Muscular Dystrophy (PPMD) in May 2009. She received $200,000 to continue her work with MRI and MRS technology so that she could then reapply for this federal funding.

The End Duchenne Grant Award Program was created by PPMD in partnership with the National Institutes of Health (NIH) in an effort to ensure continuation of promising Duchenne research and translation to human studies. The End Duchenne Grant Award Program is a bridge grant provided by PPMD to selected research projects that receive scores beyond the current funding paylines of the NIH Institutes and Centers supporting Duchenne research.  

Patricia A. Furlong, Founding President and CEO of PPMD, the largest non-profit organization in the United States focused on finding a cure for Duchenne, was thrilled to learn that Dr. Vandenborne had received this important funding. "When Krista told us she had received this award from NIAMS and NINDS to continue the critical work she and her lab are doing at the University of Florida, I was beyond excited. First, that PPMD's End Duchenne Grant Award Program proved to be successful was the reassurance we need to continue to fund important work from our country's leading researchers. But second, this news carries with it hope. Krista can continue to focus her energy on this exciting and promising technology in monitoring the progression of Duchenne. We look forward to awarding more End Duchenne Grants so that science can continue to move forward and the leaders in Duchenne research can go on to receive federal support."

When asked to comment on the potential impact of this study on muscular dystrophy research, Glen Nuckolls, Ph.D., Program Director of the Muscle Disorders and Therapies Program at NIAMS said "The findings from this study may lead to the incorporation of MRI and MRS into future clinical trials that accelerate progress toward effective treatments for Duchenne. Furthermore, similar MR tests may be applicable to other types of muscular dystrophy or even other muscle diseases and disorders, including muscle strain injuries, atrophy or sarcopenia."

Dr. Vandenborne is grateful that the University of Florida – Gainesville has received this award from NIAMS and NINDS, and believes, "This award will help us maintain the momentum of our work. We firmly believe in the promise of MRI and MRS as a non-invasive outcome measure for Duchenne. If we can replace biopsies as a tool to monitor efficacy in clinical trials for Duchenne with these methods, I think we will be able to greatly accelerate the translation from pre-clinical animal studies to clinical trials. I am so grateful to PPMD for believing in our lab's work early on and of course to NIAMS and NINDS for providing the resources it will take to go to the next level."

Last year, PPMD announced that Brown University would receive the first End Duchenne Grant Award. Since awarding that grant to Brown and Dr. Justin Fallon, he too has received funding from the NIH.