SLU Tests New Drug for Rare Neurological Disease with No Treatment

As part of a multi-center phase III clinical trial, Saint Louis University is enrolling participants with a particular subtype of Charcot-Marie-Tooth Disease in a study of a potential new medication to see if it is safe and effective.


Charcot-Marie-Tooth (CMT) disease represents a group of inherited, progressive neurodegenerative illnesses that cause nerve damage leading to muscle weakness and shrinkage, foot deformities and sensory loss. Weakness can result in foot drop, causing people to use a high-stepped gait that can lead to tripping or falling. This study will enroll patients with Charcot Marie Tooth disease - Type 1A (CMT1A), the most common subtype of the illness.

The study’s principle investigator at SLU is Florian Thomas, M.D., professor of neurology at Saint Louis University and a SLUCare neurologist.

“Though the illness is not dangerous to a person’s life, it often leads to significant disability,” Thomas said. “We need to develop a treatment that can improve quality of life and neurological function for those with this difficult illness.”

Symptoms of CMT disease usually begin between ages 5 and 25 and progress gradually. As the illness advances, weakness and muscle atrophy also involve the hands, resulting in difficulty with fine motor skills. Pain can range from mild to severe, and many patients may need to rely on foot or leg braces to maintain mobility.

Currently, there are no approved treatments for CMT1A or any other form of CMT. Supportive care addresses weakness, neuropathic pain and limb deformities, and includes ankle braces and high top shoes, as well as orthopedic surgery.

“While there are supportive therapies, they do not do enough to stop or slow the worsening of symptoms,” Thomas said.


Researchers will enroll 300 patients at 27 centers across the United States and Europe between the ages of 16 and 65 with a genetic diagnosis of CMT1A.

Study participants will be assigned to one of three parallel groups, receiving one of two doses of the study drug or a placebo over the course of 15 months.

After the initial 15 month study, patients will be eligible to participate in a follow-up nine month extension trial in which all participants receive the active study drug.

The study is sponsored by Pharnext, an advanced clinical stage biopharmaceutical company developing new therapeutics for rare and common neurological diseases.

Those who would like to learn more about participating in the clinical trial should contact Susan Eller at 314-977-4867.


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