A New Jersey-based nonprofit organization, the Parent Project Muscular Dystrophy (PPMD), has awarded UC Davis physician Craig McDonald $175,000 to expand an ongoing international research effort aimed at better understanding the progression of Duchenne muscular dystrophy and determine the benefits of current standards of care that have been established by the national Centers for Disease Control and Prevention.
The PPMD funding enables investigators to recruit 100 additional subjects into an ongoing research project with the Cooperative International Neuromuscular Research Group. That investigation, chaired by McDonald and Erik Henricson, a UC Davis muscular dystrophy researcher, is the largest and most comprehensive assessment of boys and young men with the disease to date and is being conducted at 20 study sites around the world, including the UC Davis Sacramento campus. The grant helps extend the funding support the team has received from the National Institutes of Health, the National Institute for Disability and Rehabilitation Research and the U.S. Department of Defense.
Duchenne is the most common form of childhood muscular dystrophy, affecting about 1 in 3,500 newborns – mostly boys – worldwide. It is a progressive and fatal muscle disorder that usually becomes apparent in early childhood when it begins to cause the loss of muscle function, wheelchair dependency, and declines in respiratory and cardiac functions.
“Funding from PPMD will make a critical difference in the development of new outcome measures and the overall quality of the data we collect in this study,” said McDonald, who is chair of the UC Davis Department of Physical Medicine and Rehabilitation. “Our studies have already improved clinical trials for Duchenne, and this new funding now allows us to extend our research to younger boys, including those who have not yet started taking steroids.”
Duchenne weakens skeletal muscles and causes delays in milestones such as sitting and walking. Victims usually become wheelchair-dependent during their teens. Steroids represent the only palliative treatment for the disease, often extending a youngster’s ability to walk by several years. Unfortunately, as heart muscle is increasingly affected, the disease becomes life threatening. Many patients die from heart failure in their 20s.
The UC Davis team’s work is considered crucial for improving clinical trials research for Duchenne. Companies developing new drug therapies, the U.S. Food and Drug Administration and academic investigators have all recognized the need to develop additional “endpoints,” or ways to measure the effectiveness of experimental drugs in clinical trials for Duchenne. To assess each child’s physical abilities and progress over the course of a study, for example, participants complete a six-minute walking test specifically designed by the UC Davis team and now used worldwide in clinical trials for Duchenne muscular dystrophy.
But additional measures are necessary to encompass a wider range of physical abilities so that more boys will be eligible to participate in clinical trials. The team at UC Davis is developing an “upper extremity function test” that could be used in trials for subjects who have lost the ability to walk but can still use their arms and hands.
“As a field in the past, we have primarily looked at walking ability as a main measure for clinical trials,” said Henricson, who has worked closely with McDonald to develop nationally recognized tests for Duchenne patients. “By developing and validating tools to measure upper body functions that are crucial to daily living like eating, typing on a computer or driving a wheelchair, we are helping to design clinical trials in older boys and young men who are trying to preserve upper body functions and maximize their participation in society.”
In addition to developing new endpoints and testing protocols, UC Davis investigators will also be taking blood samples from participants to look for proteins in the blood – known as “biomarkers” – that can indicate quickly whether or not an experimental drug is working. The research group has already identified several prospective biomarker candidates and will now be able to test those markers with a larger group of participants.
Parent Project Muscular Dystrophy is the largest most comprehensive nonprofit organization in the United States focused on finding a cure for Duchenne muscular dystrophy—its mission is to end Duchenne. For more information, visit http://www.parentprojectmd.org/