According to a story from PR Newswire, the nonprofit groups Duchenne UK and Parent Project Muscular Dystrophy (PPMD) have jointly awarded grant funding to the tune of $200,000 to Dr. Chad Heatwole of the University of Rochester in New York. Dr. Heatwole is spearheading a project that will develop a standardized set of Patient Reported Outcomes that will be used for future Duchenne muscular dystrophy research in the US and Europe.
About Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy is a neuromuscular disease, and it is one of the more severe types of muscular dystrophy. It is characterized by progressive muscle weakness that usually begins around age four and worsens quickly. As an X-linked genetic disease, boys are mostly affected, with girls only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of Duchenne muscular dystrophy include falling, abnormal walking posture, eventual loss of walking ability, muscle fiber deformities, intellectual disability (not in all cases), enlargement of the tongue and calf muscles, skeletal deformities, muscle atrophy, heart abnormalities, and difficulty with breathing. Treatment includes a variety of medications and therapies that can help alleviate symptoms and slow disease progression. Lifespan is usually into the thirties with good care. Better treatments for this disease are urgently needed. To learn more about Duchenne muscular dystrophy, click here.
About Patient Reported Outcomes
Patient reported outcomes are an important tool for the assessment of a drug’s impact on the life of a patient. While indicators such as biomarkers may serve to measure the pharmacological effect of the treatment, Patient reported outcomes are more aimed to measure changes to quality of life. Examples of outcomes include a patient’s ability to feed and dress oneself, or the ability to get in and out of a car or other vehicle. Such measures are of significant value for this disorder, which has significant variation in disease progression and the presentation of symptoms.
The process of developing these outcomes will require direct feedback from patients and interviews with them to identify important symptoms and develop outcomes that are within regulatory guidelines.
Learn more about the activities of Duchenne UK here.
Learn more about the activities of PPMD here.
