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INC: Pediatric Study of Charcot-Marie-Tooth Disease

Inherited Neuropathies Consortium Rare Disease Clinical Research Network


Neurological Diseases

Diseases Treated:

Charcot-Marie-Tooth Disease

Eligibility Overview:

  • Patients with Charcot-Marie-Tooth disease
  • Birth to 22 years
  1. Brief Summary

    The Inherited Neuropathies Consortium (INC) is an integrated group of medical centers that conducts clinical research in different forms of Charcot-Marie-Tooth Disease (CMT). Funded by the National Institutes of Health, the INC is part of the Rare Diseases Clinical Research Network. 

    Using cohort data, INC scientists conduct projects to:

    • Study how certain forms of CMT change over time
    • Understand genetic modifiers to CMT1A
    • Identify new genetic causes for axonal forms of CMT
    • Standardize CMT scoring systems for the pediatric population

    Although each INC center is expert in the evaluation and management of patients with CMT, the goal of the INC is not to provide care but to conduct research. However, physicians may refer patients for both clinical evaluation and potential research participation.


    • Determine the natural history and genotype-phenotype correlations of disease-causing mutations in CMT1B, CMT2A, CMT4A, CMT4C, and other forms of CMT


    • Determine the capability of the newly developed CMTPeds score and the Minimal Dataset to measure impairment and perform longitudinal measurements in patients with multiple forms of CMT over a 10-year window

    Eligibility Criteria

    Inclusion criteria include:
    Patients with Charcot-Marie-Tooth disease type 1B (CMT1B) and type 2A (CMT2A) who have:

    •  A disease-causing mutation in the MPZ gene (for CMT1B) or in MFN2 (for CMT2A) or
    • A first- or second-degree family member with a:
      • Documented disease-causing mutation
      • Clear link between that family member and the affected patient
      • Phenotype consistent with the diagnosis
    • A disease-causing variant of uncertain significance
    • A variant of uncertain significance that has been found in multiple affected family members and that has not been found in unaffected family members

    Patients with Charcot-Marie-Tooth disease type 4A (CMT4A) and 4C (CMT4C) must have one of the following:

    • Two documented, disease-causing mutations in the GDAP1 gene (for CMT4A) or 2 mutations in the SH3TC2 gene (for CMT4C)
    • Patient with variants of uncertain significance has 1 known disease-causing mutation and one known disease-causing variant
    • Patient with variants of uncertain significance has 2 variants that are disease-causing mutations
    • Patient with variants of uncertain significance is homozygous for a variant with or without parent

    Study Sites

    St. Jude Children’s Research Hospital and other centers in the U.S.

  2. About This Study

    This long-term research study will help scientists learn more about Charcot-Marie-Tooth disease (CMT). CMT is a hereditary disorder that affects the nerves.

    This study takes place in many locations, and some of those treat adults. St. Jude focuses on children and young adults. If you enroll in the INC study, you will visit St. Jude once a year for physical exams and to answer questions. Scientists will measure changes in your strength, sensation, and how well the nerves going to the hands and feet conduct a signal over many years. You may also donate blood or skin samples for research testing if you choose.

    St. Jude also invites family members who are not affected with CMT but are at the clinic to take part in certain aspects of this study.

    Purpose of This Clinical Trial

    This long-term study aims to better understand the genetic causes of Charcot-Marie-Tooth disease (CMT) and to learn how different forms of the rare hereditary disease affect people over time.

    Eligibility Overview

    • Patients with Charcot-Marie-Tooth disease
    • Birth to 22 years
  3. INC
    Sponsors: St. Jude Children’s Research Hospital identifier NCT01193075
    Trial Start Date: May 2022
    Estimated Enrollment: 15,000 nationwide (50 at St. Jude)
    Study Type: Observational longitudinal 
    Conditions: Charcot-Marie-Tooth disease
    Ages: Birth to 22 years
    Principal investigator: Richard Finkel, MD
    Study Sites: St. Jude Children’s Research Hospital and collaborating sites in the U.S.
    For a consultation or to discuss INC: St. Jude Physician/Patient Referral Office

St. Jude Children’s Research Hospital
262 Danny Thomas Place
Memphis, TN 38105  USA
Voice: 1-888-226-4343 or 901-595-4055
24-Hour Emergency Access Pager: 1-800-349-4334

The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.