MDA Grants $1,000,000 for Charcot-Marie-Tooth Disease Research

According to a July 9 report by the Muscular Dystrophy Association (MDA), the MDA awarded a large grant to researchers studying Charcot-Marie-Tooth disease. The grant, totaling over $1,000,000, was awarded to Mary M. Reilly and will help fund human clinical trials for her research that utilizes MRI to track changes in muscle caused by Charcot-Marie-Tooth disease. Keep reading to learn more, or click here to follow the story at the original source.

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease is rare inherited disorder which affects the peripheral nerves surrounding the brain and spinal cord. Charcot-Marie-Tooth disease may also be known as hereditary motor and sensory neuropathy.

Charcot-Marie-Tooth disease often begins in adolescence. The manner in which it affects the motor and sensory nerves is gradual, but worsens as time progresses. Common symptoms include weakness in lower body muscles such as the feet and legs, deformities of the foot and lower leg, muscle atrophy in the hands, and difficulty with walking and fine motor skills.

Charcot-Marie-Tooth disease is currently diagnosed by some combination of studying patient history, clinical and neurological exam, electrodiagnostic tests, and nerve biopsy.

Click here to learn more about Charcot-Marie-Tooth disease.

Reilly’s Research

Tracking the progression of Charcot-Marie-Tooth disease has been one of the largest roadblocks to developing effective treatment. Because the condition progresses at a relatively slow pace, it is difficult to track the immediate effects of treatment or easily understand how the condition behaves in small intervals. Research by Reilly and her team aims to be able to detect the efficacy of treatment inside of a one to two year window.

In order to accomplish this, Reilly’s team began working with magnetic resonance imaging, or MRI. Their tests measure the accumulation of fat in the thigh and calf muscles. Initial testing seems to confirm that the marker is effective. Over a 12 month period, fat cells in the calf have been seen to noticeably increase with certain types of Charcot-Marie-Tooth disease.

MDA Funding

The MDA funding allows Reilly and her team to take major steps forward. The team plans to expand the range of their research and diagnostic tool to cover not only the calf but the muscles of the foot as well. This makes the diagnostic more effective in less extreme cases of Charcot-Marie-Tooth diesease.

Reilly describes the work as being highly important and is grateful for the support MDA is investing. She underlines the promise of the initial results and anticipates further success for the MRI detection of biomarkers in both children with Charcot-Marie-Tooth disease, and the other most common forms. If successful, Reilly’s research will provide future researchers with the tools to create new and effective potential treatments for Charcot-Marie-Tooth disease.


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