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MDA Funds Development of a Critical Biomarker for Charcot Marie Tooth Disease

$1 million investment aims to accelerate drug development and speed clinical trials to test candidate therapies for CMT

New York, July 9, 2018 — The Muscular Dystrophy Association (MDA) today announced that it has awarded a human clinical trial grant totaling more than $1,000,000 to Mary M. Reilly, professor of clinical neurology and consultant neurologist, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, to evaluate a new magnetic resonance imaging (MRI) protocol designed to detect disease-related changes in muscles over time in Charcot Marie Tooth disease (CMT).

Currently, one the major barriers to developing safe and effective treatments for CMT is a lack of sensitive outcome measures, or biomarker tests that can accurately reflect the progression of disease over a short period of time. Because CMT typically progresses slowly, it can be difficult for scientists to detect drug effects in clinical trial participants within the relatively short duration of most clinical trials.

With colleagues, Reilly aims to develop a new sensitive outcome measure that will allow researchers conducting clinical trials to reliably detect any positive effects of a candidate treatment within a 1- to 2-year timeframe.

“The identification and validation of a biomarker that could detect disease changes in CMT over a 1-year period of time would be a critical advance that could shorten the length of clinical trials, reduce the number of participants needed to participate, attract more biotech and pharmaceutical companies to the CMT drug development space and, ultimately, lead to effective therapies,” said MDA Scientific Program Officer Amanda Haidet-Phillips, Ph.D.

In CMT, damaged motor nerves are unable to send adequate signals to muscles. This leads to muscle weakness and wasting, as well as other abnormal changes including the accumulation of fat in muscle tissue, which can be detected by MRI.

Reilly’s team has developed an MRI protocol to measure fat accumulation in thigh and calf muscles. In a pilot study to determine the protocol’s effectiveness at measuring fat infiltration in adults with CMT1A, Reilly’s team showed that the presence of calf muscle fat increased significantly over a 12-month time period.

With the new MDA funding, the team will work to refine the new protocol to include foot muscles, which could make it effective in mild cases of CMT where fat accumulation occurs more often in the feet than in calves. The team will study the refined protocol in children with CMT1A, as well as in the other three most common types of CMT: CMT1B, CMT2A and CMTX.

“We are grateful to MDA for its support of this extremely important work,” Reilly said. “The results from our pilot study of an MRI neuromuscular protocol in CMT1A are promising and we anticipate we will be able to confirm responsiveness with a refined protocol in children and in the other three common types of CMT.

“If successful, we will have developed a sensitive, validated, responsive outcome measure in CMT across international sites and across multiple forms of the disease in children and adults,” Reilly added. “This will have a major impact on our ability to conduct the clinical trials needed to efficiently and successfully test potential new therapies for CMT.”

MDA has funded more than $37 million in CMT research since 1950 and, including this most recent award, currently is funding 11 active CMT grants with a total funding commitment of more than $3.6 million.

The new grant was approved by MDA’s Board of Directors after careful deliberations and analysis by MDA advisors and research staff. Currently, MDA is funding 177 research projects around the world, with another 28 pending.

About CMT
CMT is the most commonly inherited peripheral nerve disorder, affecting approximately 1 in 2,500 people. It causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to the muscles, and relays sensations, such as pain and touch, to the brain and spinal cord from the rest of the body. CMT causes muscle weakness and atrophy, and some loss of sensation in the feet, the lower legs, the hands and the forearms. It also often causes contractures (stiffened joints due to abnormal tightening of muscles and associated tissues) and, sometimes, curvature of the spine (scoliosis). There currently are no disease-modifying drugs available for the treatment of CMT.

About the Muscular Dystrophy Association
MDA is leading the fight to free individuals — and the families who love them — from the harm of muscular dystrophy, ALS and related muscle-debilitating diseases that take away physical strength, independence and life. We use our collective strength to help kids and adults live longer and grow stronger by finding research breakthroughs across diseases; caring for individuals from day one; and empowering families with services and support in hometowns across America. Learn how you can fund cures, find care and champion the cause at

Mary Fiance
Director, Public Relations & Communications
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