Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
Key facts
- Where
- Ann Arbor, Aurora, Baltimore, Boston, Chapel Hill, Columbus, Hartford, Houston, Iowa City, Los Angeles, Memphis, Miami, Minneapolis, Palo Alto, Philadelphia, Rochester, and Seattle, United StatesSee the 18 sites
Where in United States
- University of MichiganAnn Arbor, United StatesContact: Kimberly DuvalTaking people
- University of Colorado HospitalAurora, United StatesContact: Danelle CarterTaking people
- Johns Hopkins UniversityBaltimore, United StatesContact: Simone ThomasTaking people
- Harvard (Massachusetts General Hospital)Boston, United StatesContact: Lauren PoliticaTaking people
- University of North CarolinaChapel Hill, United StatesContact: Caroline SummerourTaking people
- Nationwide Children's HospitalColumbus, United StatesContact: Stephanie DavisTaking people
- University of Connecticut/Connecticut Children's Medical CenterHartford, United StatesContact: Jennifer Twatchtman-Bassett, M.S.Taking people
- Houston Methodist HospitalHouston, United StatesContact: Samia SaadTaking people
- University of IowaIowa City, United StatesContact: Nicole Kressin, MSN, RNTaking people
- Cedars-Sinai Medical CenterLos Angeles, United StatesContact: Youstina MakaryTaking people
- St. Jude Children's Research HospitalMemphis, United StatesContact: Colin Quillivan, MSTaking people
- University of MiamiMiami, United StatesContact: Liuba AlonsoTaking people
- University of MinnesotaMinneapolis, United StatesContact: Mia FreibergTaking people
- Stanford UniversityPalo Alto, United StatesContact: Michelle E JepsenTaking people
- Children's Hospital of PhiladelphiaPhiladelphia, United StatesContact: Sabrina Yum, MDTaking people
- University of PennsylvaniaPhiladelphia, United StatesContact: Daya StevensTaking people
- University of RochesterRochester, United StatesContact: Janet SowdenTaking people
- Seattle Children's HospitalSeattle, United StatesContact: Shawna Feely, MC, GCTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorTrial details
- Who runs it
- Michael Shy
- Trial code
- NCT01193075
- Record updated
- 26 October 2026
- Original description
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).Read full original descriptionShow less
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
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
Inclusion: 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: Patient has a different potential cause for their neuropathy AND no disease-causing variant(s); Patients:; Patient does not wish to participate or does not sign a consent form; Deemed inappropriate by the Site PI.