Development and Validation of a Disability Severity Index for CMT (6604)

This study has been completed.
Muscular Dystrophy Association
Information provided by (Responsible Party):
Michael Shy, University of Iowa Identifier:
First received: October 17, 2011
Last updated: March 25, 2014
Last verified: March 2014

It is necessary for outcome measures to accurately reflect the state of health of a person in order for clinical trials to show benefit. The most commonly used outcome measure for Charcot Marie Tooth Disease (CMT) is the CMT Neuropathy Score, which uses cutoffs of points designated as mild (0-10 points), moderate (11-20) or severe (21-36). These terms are arbitrary. This study is looking to base mild, moderate, and severe on what both people affected with CMT and those who provide for people with CMT consider appropriate.

Charcot Marie Tooth Disease

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Development and Validation of a Disability Severity Index for Charcot Marie Tooth Disease

Resource links provided by NLM:

Further study details as provided by University of Iowa:

Primary Outcome Measures:
  • Compare Patient and Healthcare Provider impressions of what constitutes mild, moderate and severe impairment in CMT [ Time Frame: 1 year ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Develop a Disability Severity Index including items with high patient-physician concordance [ Time Frame: 1 year ] [ Designated as safety issue: No ]

Enrollment: 291
Study Start Date: June 2011
Study Completion Date: March 2014
Primary Completion Date: March 2014 (Final data collection date for primary outcome measure)
Health Care Provider
A person working within the field of CMT.
Patient with CMT
Any person of any age self-identifying as having CMT and belonging to the Inherited Neuropathies Consortium Contact Registry hosted by the Rare Disease Clinical Research Network.


Ages Eligible for Study:   8 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Two cohorts:

  1. Patients self identified as having CMT and have chosen to be a part of the Inherited Neuropathies Consortium Contact Registry, housed by the Rare Disease Clinical Research Network.
  2. Healthcare Providers working in the field of CMT.

Inclusion Criteria:

  • patients with CMT ages 8-100,
  • health care professionals who take care of patients with CMT.

    • Eligible patients will be patients that have joined the INC RDCRN Contact Registry. These will be patients or guardians with known or probable inherited neuropathies.
    • Eligible health care professionals who participate in the care of patients with inherited neuropathies (physicians, genetic counselors, physical and occupational therapists etc.) attending the 4th International CMT Consortium to be held in Potomac Maryland June 29-July 1, 2011.

Exclusion Criteria:

  • Does not read or speak English.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01455623

United States, Iowa
University of Iowa
Iowa City, Iowa, United States, 52242
Sponsors and Collaborators
University of Iowa
Muscular Dystrophy Association
Principal Investigator: Sindhu Ramchandren, MD Wayne State University
  More Information

No publications provided

Responsible Party: Michael Shy, Professor, University of Iowa Identifier: NCT01455623     History of Changes
Other Study ID Numbers: INC-6604
Study First Received: October 17, 2011
Last Updated: March 25, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by University of Iowa:

Additional relevant MeSH terms:
Charcot-Marie-Tooth Disease
Hereditary Sensory and Motor Neuropathy
Nerve Compression Syndromes
Tooth Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Heredodegenerative Disorders, Nervous System
Nervous System Diseases
Nervous System Malformations
Neurodegenerative Diseases
Neuromuscular Diseases
Peripheral Nervous System Diseases
Stomatognathic Diseases processed this record on September 03, 2015