11:24pm Tuesday 15 October 2019

Researchers Uncover Novel Blood Biomarkers To Better Monitor Therapy Effectiveness for Duchenne Muscular Dystrophy

The collaborative study involving academic, industry, and patient advocacy scientists was published in the Proceedings of the National Academy of Sciences.

DMD is an X-linked genetic disorder impacting boys and is characterized by progressive muscle degeneration and weakness, leading to loss of ambulation by 8 to 15 years of age, and eventually early death by mid-twenties. There is no effective treatment for DMD and the disease cannot be cured. Corticosteroids can delay muscle inflammation for a couple of years, but cannot cure the disease.

The new biomarker results potentially offer a key tool that may be used to evaluate DMD progression in patients and help monitor efficacy of new therapies,  said Yetrib Hathout, PhD,  Associate Professor, Department of Integrative Systems Biology, Center for Genetic Medicine Research at Children’s National, and first author of the paper.  Currently, clinicians often rely on a 6-minute walk test among patients to evaluate response to therapies, but this task has proven challenging, especially in young boys.

“There has been a critical need for useful biomarkers to help with the diagnosis and treatment of DMD. By examining the level of biomarkers, we can tell the disease stage and progression, too,” Dr. Hathout said. “In that way, we can target different pathways into the disease, monitor responses to therapy, and target a drug for the condition.”

The study focused on a review of more than 1,125 protein samples in blood of 93 DMD patients and 45 age-matched, healthy volunteers. The researchers found highly significant changes in the concentration levels of 44 biomarkers that reflected various stages of the disease, Dr. Hathout said.

 “This set of non-invasive biomarkers can be easily used as a readout to monitor disease progression and response to therapies in boys with DMD, and that is our next step in this area of DMD research,” Dr. Hathout added.

Thanks to efforts from the Cooperative International Neuromuscular Research Group,  a clinical research network compromised of more than 20 academic and scientific sites based at Children’s National, and the Parent Project Muscular Dystrophy, a non-profit advocacy organization, blood samples were collected from hundreds of DMD patients enrolled by clinicians at more than two dozen sites worldwide and made available for this biomarker study.

Researchers used SomaLogic, Inc. protein measurement technology to identify and verify key blood protein biomarkers. “This is the most comprehensive biomarker study to date and complements previous biomarker studies done on DMD patients,” Dr. Hathout said.

The findings should spur a large number of renewed efforts around finding new treatments for DMD, Dr. Hathout added.

“We are finding potentially new non-invasive tools to monitor DMD patients and reduce the burden during visits to the clinic,” said Dr. Hathout, “and we hope, other rare and debilitating neuromuscular and neurodegenerative diseases.”

Contact: Emily Hartman or Caitlyn Camacho at 202-476-4500.


About Children’s National Health System

Children’s National Health System, based in Washington, DC, has been serving the nation’s children since 1870. Children’s National is Magnet® designated, and is consistently ranked among the top pediatric hospitals by U.S.News & World Report. Home to the Children’s Research Institute and the Sheikh Zayed Institute for Pediatric Surgical Innovation, Children’s National is one of the nation’s top NIH-funded pediatric institutions. With a community-based pediatric network, seven regional outpatient centers, an ambulatory surgery center, two emergency rooms, an acute care hospital, and collaborations throughout the region, Children’s National is recognized for its expertise and innovation in pediatric care and as an advocate for all children.

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