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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 > Charcot Marie tooth disease CMT2A

Charcot Marie tooth disease CMT2A

Disease Category: Inherited Neuropathies

An autosomal dominant (inherited from one parent) disorder due to MFN2 gene mutation affecting nerve axons (ends of the nerves) which carry signals from the brain to the extremities. Symptoms are more severe with earlier onset, including weakness, sensory loss, and muscle atrophy (wasting) of the lower legs; balance problems; hyporeflexia (decreased reflexes); and foot deformities requiring ankle braces to support walking. A few symptoms impact the central nervous system, including thinning of the spinal cord, hearing loss, and vision loss due to optic nerve atrophy.

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.

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

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

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

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

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.