Clinical Trial: Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Observational

Official Title: Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others

Brief Summary:

This is an observational longitudinal study to determine the natural history and genotype-phenotype correlations of disease causing mutations in Charcot Marie Tooth disease (CMT) type 1B (CMT1B), 2A (CMT2A), 4A (CMT4A), and 4C (CMT4C).

The investigators will also be determine the capability of the newly developed CMT Pediatric Scale (CMT Peds scale) and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a five year window

Detailed Summary:

The Inherited Neuropathies Consortium (INC) is a member of the Rare Disease Clinical Research Network (RDCRN) that is funded by the National Institutes of Health (NIH) through the Office of Rare Diseases (ORD) and the NINDS. The University of Iowa is the lead center in INC which also includes sites from the University of Pennsylvania, Children's Hospital of Philadelphia (CHOP), the University of Rochester (NY), the National Hospital for Neurology and Neurosurgery in London England, the Dubowicz Neuromuscular Center, and the University of Miami (Florida). The North American CMT Network is an additional consortium that is funded by the Muscular Dystrophy Association (MDA) and the Charcot Marie Tooth Association (CMTA). The University of Iowa is the lead site for this consortium as well. Additional sites include the University of Washington (Seattle), Vanderbilt University, Johns Hopkins University, the University of Sydney, the Besta Neurological Institute in Milan (Italy), Harvard University and the intramural Neurogenetics division of the NIH. All funding sources have agreed to allow us to house data from the two consortia together at the NIH funded Data Management Coordinating Center (DMCC) at the University of South Florida and to group them under the name of the Inherited Neuropathies Consortium (INC).

The inherited peripheral neuropathies are often called Charcot Marie Tooth Disease (CMT), named after the three physician scientists who first described them. These are a heterogenous group of disorders caused by mutations in more than 50 different genes. The diseases cause weakness and loss of sensation in patients. There are no effective treatments for any forms of CMT. There is also limited information on the natural history of how any of the different types of CMT progress and limited outcome measures to measure impairment. The purpose of INC is to investigate the na
Sponsor: University of Iowa

Current Primary Outcome:

• Charcot Marie Tooth Neuropathy Score (CMTNS) [ Time Frame: 1 year ]
  Charcot Marie Tooth Neuropathy Score (CMTNS) is a composite measure of disability based on a person's symptoms, signs, and electrophysiology. It is based on a 36 point scale, with 9 items each worth up to 4 points. A higher score signifies increased disability.
• Minimal dataset [ Time Frame: 1 year ]
  This includes diagnosis, family history, developmental history, walking ability, hand function, strength, sensation, and neurophysiology.

Original Primary Outcome:

• Charcot Marie Tooth Neuropathy Score (CMTNS) [ Time Frame: 1 year ]
  Charcot Marie Tooth Neuropathy Score (CMTNS) is a composite measure of disability based on a person's symptoms, signs, and electophysiology. It is based on a 36 point scale, with 9 items each worth up to 4 points. A higher score signifies increased disability.
• Minimal dataset [ Time Frame: 1 year ]
  This includes diagnosis, family history, developmental history, walking ability, hand function, strength, sensation, and neurophysiology.

Current Secondary Outcome:

Original Secondary Outcome:

Information By: University of Iowa

Dates:
Date Received: August 9, 2010
Date Started: April 2010
Date Completion:
Last Updated: May 14, 2015
Last Verified: May 2015