On July 21, 2021, Patient Worthy attended an online webinar presentation titled “How RDCA-DAP Can Help Inform Optimal Trial Design in Progressive Rare Disease.” Organized by the Critical Path Institute (‘C-Path’) with support from the National Organization for Rare Disorders (‘NORD’), this program focused on a presentation of how the Rare Disease Cures Accelerator Data and Analytics Platform (RDCA-DAP) was used to develop a precise model of disease progression for Duchenne muscular dystrophy (DMD).
About Duchenne Muscular Dystrophy (DMD)
DMD 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, males are mostly affected, with females only occasionally displaying mild symptoms. The disease is caused by mutations of the dystrophin gene. Symptoms of DMD 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 DMD, click here.
In this disease state, multiple potential therapies have reached the late stage clinical trials only to fail to meet the primary endpoint of the study. Varun Aggarwal, PhD, Director, Statistical and Mathematical Medicine, Quantitative Medicine, presented in this webinar and wondered if a more precise model of disease progression created using RDCA-DAP could lead to better trial designs and contribute to the successful development of new therapies.
A mathematical model can help get a better idea about the rate of progression in a given illness. However, in order to work and be effective, a lot of well-curated data is necessary. In fact, Dr. Aggarwal admits that he wished that more data on mutations and racial background had been available for the model that was developed.
The data from this model ultimately drew from nine different studies and a total of 827 patients. A simulator using the model could help design future DMD clinical trials. Quantitative tools such as this model can help convert data into more useable knowledge, and the RDCA-DAP is critical for developing them.
Check out the full webinar here.