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Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 21 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

This network focuses on clinical research and does not generally support clinical care outside of research activities. To learn about other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD), which is an NIH program that helps the public find reliable information about rare and genetic diseases. Their staff are specialists. Contact them at 1-888-205-2311 or email GARDinfo@nih.gov.

All Diseases > Inherited neuropathies

Inherited neuropathies (Inherited Neuropathy)

Alternative Names: Charcot Marie Tooth Disease (CMT)

Disease Category: Inherited Neuropathies

Charcot Marie tooth (CMT) disease is an inherited peripheral neuropathy. Inherited means that something can be passed on from generation to generation. Neuropathy means that there is a problem with the nerves. Peripheral refers to the peripheral nervous system, which is all of the nerves that branch from the central nervous system (brain and spinal cord) and travel to the feet and hands - the periphery of the body. People with CMT usually have problems with their feet and hands, including feet deformity (high arches and hammertoes), foot drop, abnormal sensations (and loss of fine motor skills. Not everyone with CMT is affected in the same way. Some patients have mild neuropathy, while others may have more severe problems with walking, hands, and/or sensation

Research groups studying this disease

Inherited Neuropathies
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Inherited Neuropathy Consortium (INC)

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Recruiting

A lack of high quality natural history data, based on a uniform, quantitative evaluation of patients continues to hinder the efforts to perform clinical trials for most forms of CMT. This study aims to determine the natural history of CMT1B, CMT2A, CMT4A, CMT4C, and other types of CMT in order to refine the overall picture of disease for use in future clinical trials.

Despite great success of gene identification in CMT, there is still much more genetic heterogeneity to uncover. In addition, modifying factors are an important aspect of CMT, but have been rarely studied in a systematic fashion. This study will apply innovative study designs and the latest technology to tackle some of the most pressing genetic issues in CMT, ultimately paving the way for new therapeutic approaches. This study aims to determine if gene modifiers exist for CMT1A, and to find new genetic causes of CMT.

Gait and balance deficits resulting from CMT are core contributors to disability. Thus, it is important to reliably and sensitively capture the impact of candidate therapies on daily activity, especially on gait and balance. This study aims to characterize real world function by measuring habitual physical activity of individuals with different Charcot-Marie-Tooth disease (CMT) subtypes and evaluate the natural history of physical activity over a 3 year period, and to validate digital biomarkers of gait and balance deficits in individuals with CMT by evaluating the reliability, sensitivity, and responsiveness of parameters derived from wearable inertial sensors.

Funds Charcot-Marie-Tooth (CMT) research and works to improve quality of life for all CMT patients.

Supports Charcot-Marie-Tooth patients and their families with dedicated actions and research to increase awareness and quality of life.

Supports people living with Charcot-Marie-Tooth disease in the United Kingdom by providing personal support, advice, and information.

Works to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families, and fund research.

Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases.

This patient-led, non-profit foundation is focused exclusively on addressing treatments and cures for Charcot-Marie-Tooth disease.

Founded in 1990, Fondazione Telethon conducts fund raising activities to support research projects that aim to advance the treatment of rare genetic diseases.