Charcot-Marie-Tooth Disease Observation Study Begins

According to a story from clinicaltrials.gov, an observational study titled “The Impact of Charcot-Marie-Tooth Disease” was added to the site on December 20th, 2018. The study itself first began on October 9th. This study will assist in the development of a patient registry and is intended to record real-world data submitted by patients to better understand the impacts of Charcot-Marie-Tooth disease and the resulting treatments.

Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease is a hereditary disorder of the peripheral nervous system. It is most characterized by a progressive loss of touch sensation and muscle tissue in several different parts of the body. The cause of this disease is usually linked to a genetic mutation, but the mutation involved varies depending on the variant of Charcot-Marie-Tooth disease. There are multiple types of Charcot-Marie-Tooth disease, with all types aside from type 2 having a demyelinization effect. Type 2 causes damage to the neuronal axon instead. Symptoms include foot drop, muscle wasting (typically in the arms, legs, and hands), painful muscle spasms, loss of sensation in the limbs, scoliosis, trouble speaking, chewing, swallowing, and tremors. Treatment typically includes therapy and surgery in order to maintain function. There is no cure. The disease can occur early in life or as late as the 30s and 40s. To learn more about Charcot-Marie-Tooth disease, click here.

Study Information

The data gathered from this study will become available to scientists and researchers and will serve to improve care standards, learn more about Charcot-Marie-Tooth disease, and facilitate the development of new therapies. 

This study is projected to involve about 2,000 patients and is slated to run until 2021. The study will use a digital platform that has been developed in collaboration with a number of Charcot-Marie-Tooth disease experts, Pharnext (a biopharmaceutical company), and several patient advocacy organizations. The participating patients will submit data into the study via a smartphone app.

The platform is intended to provide a number of benefits to patients in order to incentivize consistent data submission. Data aggregations will be available to researchers, but the privacy of participants will always be protected; researchers will not be able to identify individual patients using data from the study.

This study will help further Charcot-Marie-Tooth disease research and the development of more effective therapies.


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