Research Studies

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).

Charcot Marie Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are common complications in people with CMT and orthopedic surgery is often needed. The purpose of this study is to understand the current surgical approach to orthopedic complications in patients with CMT. Approximately 45 orthopedic surgeons who perform surgical procedures for foot deformities on CMT patients attending centers participating in the Inherited Neuropathies Consortium (INC) will be asked to complete a survey.

This is an observational study. The questionnaires in this study are considered Patient Reported Outcome (PRO) measures. These questionnaires are filled out by participants and do not involve an examination or treatment. The study questionnaires may range from 19 to 160 questions and focus on your ability to do a number of physical activities. The questionnaires include a series of questions which are meant to evaluate how CMT affects your ability to perform specific physical tasks and activities. There are questions about your overall physical health, physical activities, everyday activities, and which tasks or physical activities may be difficult for you. You can skip any question that you wish.

The purpose of this study is to learn about Carpal Tunnel Syndrome (CTS) in patients with Charcot-Marie-Tooth (CMT) disease or Hereditary Neuropathy with liability to Pressure Palsies (HNPP). CMT and HNPP are two types of inherited neuropathy. Symptoms of inherited neuropathies vary according to the type and may include numbness, tingling, pain and weakness in the hands and feet. HNPP is a unique type of inherited neuropathy, in that the peripheral nerves in the arms and legs are vulnerable to pinching. CMT is a progressive disease and (unlike HNPP) the vulnerability of peripheral nerves to pinching is not a known feature of the disease. Carpal Tunnel Syndrome (CTS) affects 3-6% of adults (4-10 million Americans) and is usually very treatable. CTS is caused by pinching of a nerve (median nerve) at the wrist. It can cause numbness, tingling, pain and weakness in the hand. There is some evidence to suggest that CTS might be more common in people who have inherited neuropathies such as CMT or HNPP. Despite the fact that CTS is relatively common, there is currently little information about CTS in people who have CMT or HNPP. This study is important, because we believe it will help us better understand how CTS affects people with CMT or HNPP and which treatments for CTS are best for patients with CMT or HNPP.

The purpose of this study is to determine the best way to measure the progression of Charcot-Marie-Tooth Disease Type 1A (CMT1A) over time. This study is important to help us to prepare for clinical trials. We are looking at new ways of measuring changes in CMT1A progression over a short period of time and assessing their usefulness in measuring effects of treatments in future clinical trials.