Skip to content
Bored Studies
RecruitingAccepts healthy volunteers

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

Michael Shy · with Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Johns Hopkins University · NCT01193075

View Study & Apply (opens in a new tab)

Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
5000
US sites recruiting
18
Study start
April 1, 2010
Record last updated
October 26, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is about

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

Conditions: Charcot Marie Tooth Disease

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

Inclusion Criteria

General Criteria

  • All patients must agree to take part in the study and sign a consent form. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements).

Patients

  • Must have a documented, disease-causing variant(s) in a gene with a known or preliminary association with CMT gene as per Strande et al. 2017 AND consistent with the inheritance pattern associated with the genetic subtype (heterozygous in autosomal dominant, biallelic in autosomal recessive, hemizygous males with X-linked).
  • OR have a first- or second-degree family member (parent, child, sibling, half-sibling, aunt, uncle, grandparent, or grandchild) with a documented disease-causing variant(s) as above AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis.
  • In cases where clear links are not available, genetic confirmation is required.
  • Patients who have a variant(s) of uncertain significance on clinical laboratory reports may still be included if:
  • The variant is categorized as pathogenic or likely pathogenic per the "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology." (Richards et al., 2015)
  • OR the variant has been found in multiple affected people in a family and has not been found in unaffected family members per "ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification." (Biesecker et al. 2023)
  • OR the principal investigator and the site investigator agree that the variant(s) is (are) likely disease-causing.

Controls

  • Must not have a peripheral neuropathy, as determined by the site investigator.
  • Must have understood and signed an IRB approved consent form for the study. Teenagers (age 13-17 years) must sign an assent form (depending on local ethics committee requirements).

Exclusion Criteria

Patients

  • Patient does not wish to participate or does not sign a consent form.
  • Patient has a different potential cause for their neuropathy AND no disease-causing variant(s).
  • Deemed inappropriate by the Site PI.

Recruiting US locations

  • Cedars-Sinai Medical Center

    Los Angeles, CA 90048

    Site contact: Youstina Makary · Youstina.Makary@cshs.org

  • Stanford University

    Palo Alto, CA 94305

    Site contact: Michelle E Jepsen · mjepsen@stanford.edu

  • University of Colorado Hospital

    Aurora, CO 80045

    Site contact: Danelle Carter · NeuroResearch@cuanschutz.edu

  • University of Connecticut/Connecticut Children's Medical Center

    Hartford, CT 06106

    Site contact: Jennifer Twatchtman-Bassett, M.S. · 860.837.6512 · jtwachtman@connecticutchildrens.org

  • University of Miami

    Miami, FL 33136

    Site contact: Liuba Alonso · lxa2158@med.miami.edu

  • University of Iowa

    Iowa City, IA 52242

    Site contact: Nicole Kressin, MSN, RN · 319-356-6362 · UICMTClinic@uiowa.edu

  • Johns Hopkins University

    Baltimore, MD 21205

    Site contact: Simone Thomas · 410-550-9005 · sthom125@jhmi.edu

  • Harvard/Massachusetts General Hospital

    Boston, MA 02114

    Site contact: Lauren Politica · lpolitica@mgh.harvard.edu

  • University of Michigan

    Ann Arbor, MI 48109

    Site contact: Kimberly Duval · kduval@med.umich.edu

  • University of Minnesota

    Minneapolis, MN 55455

    Site contact: Mia Freiberg · freib052@umn.edu

  • University of Rochester

    Rochester, NY 14642

    Site contact: Janet Sowden · 585-275-1267 · janet_sowden@urmc.rochester.edu

  • University of North Carolina

    Chapel Hill, NC 27599

    Site contact: Caroline Summerour · summerourc@neurology.unc.edu

  • Nationwide Children's Hospital

    Columbus, OH 43205

    Site contact: Stephanie Davis · Stephanie.Davis3@nationwidechildrens.org

  • Children's Hospital of Philadelphia

    Philadelphia, PA 19104

    Site contact: Sabrina Yum, MD · 215-590-1719 · Yums@email.chop.edu

  • University of Pennsylvania

    Philadelphia, PA 19104

    Site contact: Daya Stevens · daya.stevens@pennmedicine.upenn.edu

  • St. Jude Children's Research Hospital

    Memphis, TN 38105-3678

    Site contact: Colin Quillivan, MS · 901-595-6266 · colin.quillivan@stjude.org

  • Houston Methodist Hospital

    Houston, TX 77030

    Site contact: Samia Saad · ssaad@houstonmethodist.org

  • Seattle Children's Hospital

    Seattle, WA 98105

    Site contact: Shawna Feely, MC, GC · shawna.feely@seattlechildrens.org

Study contacts (from the official record)

  • Nicole M Kressin, MSN, RN · 319-384-6362 · UICMTClinic@uiowa.edu
  • Tiffany Grider, MS, CGC · 319-384-6362 · UICMTClinic@uiowa.edu
All neurology studies in California →