Sarah Youssof, at the University of New Mexico Health Sciences Center in Albuquerque, was awarded an MDA clinical research training grant totaling $180,000 over a period of two years to study outcome measures in oculopharyngeal muscular dystrophy (OPMD).
OPMD is a progressive, adult-onset disease that affects the muscles that control the eyelids, the swallowing muscles and other muscles. It typically occurs in the fourth or fifth decade of life. The gene that, when defective, causes OPMD encodes a protein called nuclear poly (A) binding protein 1 (PABPN1).
A critical barrier to the pursuit of clinical trials is the lack of established outcome measures that can capture disease progression and treatment effects.
Youssof’s goal is to explore the performance of a set of outcome measures for measurement of OPMD disease severity and to investigate patients’ perspectives on the disease.
The results of Youssef’s work could lead to clinical trials for OPMD incorporating validated outcome measures that reflect endpoints that are meaningful to people with the disease.
Funding for this MDA grant is effective July 1, 2013.