Faculty, PhD Student Receive Funding to Research Duchenne Muscular Dystrophy
Two grassroots foundations founded by the families of young boys diagnosed with Duchenne muscular dystrophy (DMD) have jointly awarded a $20,000 grant to researchers at MGH Institute of Health Professions in Boston to advance clinical outcomes measures for individuals with DMD.
The funding, from Ryan's Quest of New Jersey and Michael's Cause of New York, will enable Elise Townsend, DPT, PhD, PCS, an associate professor of physical therapy at the MGH Institute, and Michael Kiefer, DPT, a doctoral research fellow in his second year of the Boston graduate school’s PhD in Rehabilitation Sciences program, to utilize existing longitudinal databases to improve the understanding of DMD motor function trajectories and outcome measures for clinical trial design and interpretation.
“The incredible generosity of these foundations will fund important research to advance motor assessment and interpretation in Duchenne,” said Dr. Townsend, who also is associate director of the MGH Institute’s PhD in Rehabilitation Sciences program. “As clinical scientists, clinical trial evaluators, and clinicians, we are very aware of the challenges related to measuring motor function in valid, reliable and clinically meaningful ways. We believe this research will have immediate significance for the DMD community and are optimistic about the potential for this work to advance clinical trial design and efficiency in working towards the approval of effective therapeutics for individuals with DMD.”
Townsend and Kiefer are experienced clinicians and clinical trial evaluators in pediatric neuromuscular disorders. Additionally, Townsend is an experienced clinical research scientist with expertise in pediatric neuromuscular disorders, clinical trials, and motor outcome assessments. She has published in the areas of pediatric motor function and currently provides consultation and motor assessment training for several pediatric neuromuscular disorder studies and clinical trials.
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function, and premature death. It is one of the most common pediatric genetic disorders, affecting one in 5,000 live male births and some females. DMD is caused by the body's inability to create dystrophin, a large protein found in muscle cells. Children with DMD usually lose their ability to walk around the age of 12 and succumb to the disease in their early to mid-twenties. Despite several ongoing clinical trials, there is still no cure.
Ryan's Quest and Michael's Cause are non-profits founded by families of boys and young men with Duchenne muscular dystrophy who believe that their global collaboration is paramount to see potential therapies through the drug pipeline.