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Saturday, April 20, 2024

International study on Duchenne muscular dystrophy allows for future research opportunities

 The study analyzes disease progression to provide a foundation for new treatments


By KATIE HELLMAN — science@theaggie.org 


The UC Davis Health Department of Physical Medicine and Rehabilitation is launching an international study on the history of Duchenne muscular dystrophy (DMD) in collaboration with the Cooperative International Neuromuscular Research Group (CINRG) and the Therapeutic Research in Neuromuscular Disorder Solutions

DMD is an inherited disorder that primarily affects males and is characterized by progressive muscle weakness. It presents itself at birth and can affect heart, lung and bone health.

The Duchenne Natural History Study aims to collect information from clinics around the world on the progression of DMD in people of different ages. The data will be used to conduct further research into new treatment options.

Erik K. Henricson, the co-principal investigator on the study and an associate professor in the Department of Physical Medicine and Rehabilitation, commented on the goals of the study.

“[We’re] not just looking at the rates of loss of strength of a specific muscle group but how that contributes to overall mobility,” Henricson said. “And using statistical techniques, [we’re looking at] what we can do to develop predictive models or get information from a patient today to predict where we think they’re going to be disease-progress wise two to four years from now. Not everybody progresses at the same rate; the trajectories can be different enough that the milestones we tend to see, such as the loss of ability to perform certain functions, can occur at different times.”

The project builds upon a previous study by UC Davis scientists and CINRG collaborators. The study, which ran from 2003 to 2016, included 20 institutions from nine countries and consisted of 440 families. Changes in physical abilities, the severity of health issues and the ways in which patients utilized healthcare services were analyzed throughout the duration of the study. 

That study aimed to “longitudinally assess body function and body structure (impairment) through the measurement of anthropometrics, muscle strength and pulmonary function” and to “assess participation, life satisfaction, service utilization and health-related quality of life in subjects with DMD.”

Craig M. McDonald, the co-principal investigator of the 2003-2016 study and a professor in and chair of the Department of Physical Medicine and Rehabilitation, commented on his work regarding DMD research in an article by Newswise.

“It is incredibly rewarding as a physician scientist to generate natural history data and develop novel clinical endpoints used in clinical trials, and I have been excited to be able to offer my patients precision therapeutics that target the underlying causes of neuromuscular diseases and modifying the course of these complex multisystem diseases,” McDonald said.

Researchers also discovered biomarkers associated with disease progression. These findings led them to identify how common genetic variations could alter patterns and rates of DMD progression, which can be used to develop methods to prevent DMD from occurring.

“There are a number of really cool new technologies out there that are capable of causing the body to skip over mutated parts of the genes, often called exon skipping,” Henricson said. “As a result, you often get a shorter but mostly functional dystrophin protein, which actually helps to create stronger muscle cells and to reduce the impact of the disease.”


Written by: Katie Hellman — science@theaggie.org