Development of CMT Peds Scale for Children with CMT

Information about how different forms of CMT affect children is not readily available because there are not good methods to measure impairment of children with CMT. The purpose of this project is to develop and test such a method and to then test this scale to ensure that it is an effective measurement of impairment of CMT in children, that the children tolerate it well, that different investigators using this method obtain similar results and that changes over time with the scale allow measurement of progression of CMT in the children.

Primary Objective: 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.

Secondary Objective: We propose to test the sensitivity of the CMT Peds Scale in a longitudinal study and compare the CMT Peds Scale with the Children's Quality of Life scale CHQ-PF50.

2000 patients <21 years of age with various forms of CMT will be evaluated at baseline and at subsequent annual follow up visits when possible. This first study release makes available data of n=208 study participants.

• Study Weblinks:
  • CMT Research
• Study Design:
  • Prospective Longitudinal Cohort
• Study Type:
  • Longitudinal
• Total number of consented subjects: 208
• Subject Sample Telemetry Report (SSTR)

1. Children (<21 years of age)
2. Known or probable inherited neuropathies classified as CMT1, CMT2, or CMT4
3. Must be enrolled in the INC 6601 (where additional phenotype data are available).

1. Children (<21 years of age) who do not have a peripheral neuropathy, as determined by the investigator.
2. Person or guardian has understood and signed an IRB approved consent form for the study. Teenagers (13-17 years) must sign an assent form (depending on local ethics committee requirements).

1. Known diagnosis of acquired neuropathy including toxic (e. g. medication related neuropathies); metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP) polyneuropathies; neuropathy related to leukodystrophy, congenital muscular dystrophy.
2. Patients with severe general medical conditions
3. Entirely normal conduction velocities of upper and lower limbs as this suggests that the subject may not have a neuropathy.

Study Activated June 18, 2010

• Primary Phenotype: Charcot-Marie-Tooth Disease

• BioProject
• PubMed
• MeSH
• PMC

• Study Chair
  • Michael E. Shy, MD. University of Iowa Health Care, Iowa City, IA, USA.
• Site Principal Investigators
  • Sabrina Yum, MD. Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Steven Scherer, MD, PhD. University of Pennsylvania, Philadelphia, PA, USA.
  • David Herrmann, MBBCh. University of Rochester, Rochester, NY, USA.
  • Mary Reilly, MD. National Hospital of Neurology and Neurosurgery, London, UK.
  • Francesco Muntoni, MD. Dubowitz Neuromuscular Centre, London, UK.
  • Stephan Züchner, MD, PhD. University of Miami, Miami, FL, USA.
  • Joshua Burns, PhD. Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia.
  • Davide Pareyson, MD. C. Besta Neurological Institute, Milan, Italy.
  • Thomas Lloyd, MD, PhD. Johns Hopkins University, Baltimore, MD, USA.
  • Jun Li, MD, PhD. Vanderbilt University, Nashville, TN, USA.
  • Thomas Bird, MD. University of Washington, Department of Neurology, Seattle, WA, USA.
  • Michael D. Weiss, MD. University of Washington, Department of Neurology, Seattle, WA, USA.
  • Richard S. Finkel, MD. Nemours Children's Hospital Department of Neurology, Orlando, FL, USA.
  • Sindhu Ramchandren, MD, MS. University of Michigan, Michigan House, Ann Arbor, MI, USA.
  • Gyula Acsadi, MD, PhD. University of Connecticut, Hartford, CT, USA.
• Study Statistician
  • Brian Bundy, PhD. Health Informatics Institute, University of South Florida, Tampa, FL, USA.
• Data Management and Coordinating Center
  • Jeffrey Krischer, PhD. Health Informatics Institute, University of South Florida, Tampa, FL, USA.
• Funding Source
  • U54NS065712. Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institute of Neurological Disorders and Stroke, National Institutes of Health Bethesda, MD, USA.