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All Diseases > Charcot Marie Tooth Disease CMT1A
Charcot Marie Tooth Disease CMT1A
Disease Category: Inherited Neuropathies
An autosomal dominant (inherited from one parent) disorder due to PMP22 gene mutation which causes demyelination, or problem with myelin (the fatty coating) around extremity nerves. Symptoms usually manifest in late adolescence, including weakness, sensory loss, and muscle atrophy (wasting) of the lower legs; balance problems; hyporeflexia (decreased reflexes); lack of proprioception (spatial awareness of the limbs); and foot deformities requiring ankle braces to support walking.
Research groups studying this 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.
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.
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.
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.
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.