The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 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 CMT4
Charcot Marie Tooth Disease CMT4
Disease Category: Inherited Neuropathies
A rare disorder with 9 subtypes affecting either axons (nerve ends) or myelin (fatty coating) of extremity nerves. Most forms of this disease are autosomal dominant (inherited from one parent), but these 9 subtypes are autosomal recessive (inherited from both parents). Symptoms include weakness, sensory loss, and muscle atrophy (wasting) of the lower legs; hypotonia (low muscle tone); scoliosis (abnormal spinal curvature sideways); steppage gait (lifting the legs high to avoid tripping over dragging toes); and foot deformities requiring ankle braces to support walking.
Research groups studying this disease
Inherited Neuropathy Consortium (INC)View Disease Definition
6601: Natural History Evaluation of Charcot Marie Tooth Disease
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.
6603: Development of CMT Peds Scale for Children with CMT
It is likely that progression also varies during different pediatric age groups for different forms of CMT. However, there are no large-scale epidemiological data available for the genetic distribution or natural history of inherited neuropathies in the pediatric age group. This study aims to develop and test the CMT Peds scale (CMTPedS) in children with CMT in order to refine the scoring for future natural history and therapeutic trials. This study involves designing a pediatric scale(s) to measure impairment in children with CMT and to test the scale’s ability to measure disease progression in patients.
6611: Charcot-Marie-Tooth disease Infant Scale
No CMT-specific clinical outcome measure currently exists to measure disease severity or progression in children from birth to 3 years of age. This is an important omission since future clinical interventions may be most effective in slowing disease progression if given early in life.The purpose of this study is to develop and validate a clinical outcome measure to evaluate disability and disease progression of children ≤3 years of age (infants and toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
Supports people living with Charcot-Marie-Tooth disease in the United Kingdom by providing personal support, advice, and information.
Charcot Marie Tooth Association
Funds Charcot-Marie-Tooth (CMT) research and works to improve quality of life for all CMT patients.
Hereditary Neuropathy Foundation
Works to increase awareness and accurate diagnosis of Charcot-Marie-Tooth (CMT) and related inherited neuropathies, support patients and families, and fund research.
ACMT-Rete per la malattia di Charcot-Marie-Tooth
Supports Charcot-Marie-Tooth patients and their families with dedicated actions and research to increase awareness and quality of life.
Muscular Dystrophy Association
Supports efforts to transform the lives of people with muscular dystrophy, ALS, and related neuromuscular diseases.
CMT Research Foundation
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.