Natural History of CMT

Condition: Charcot-Marie-Tooth disease

Eligibility

Key Inclusion Criteria - CMT1B and CMT2A

  • Patient has documented, disease causing mutation in the MPZ gene (for CMT1B) or in MFN2 (for CMT2A)

    OR
  • Patient has a first or second degree family member with a documented disease causing mutation AND a clear link between that family member and the affected patient AND a phenotype consistent with the diagnosis.
  • Patient who has a variant of uncertain significance may still be included if specific circumstances apply.

Key Inclusion Criteria - CMT4A and CMT4C

  • Patient has two documented, disease causing mutations in the GDAP1 gene (for CMT4A) or two mutations in the SH3TC2 gene (for CMT4C).

    OR
  • Patient who has a variant of uncertain significance may still be included if specific circumstances apply.

Key Inclusion Criteria - Controls

  • Patient does not have a peripheral neuropathy

Key Exclusion Criteria

  • Patient has a variant of uncertain significance that cannot be further classified.
  • Patient is deemed inappropriate by the site principal investigator.

Full Study Name

A Natural History Study of CMT 1B, CMT 2A, CMT 4A, and CMT 4C (IRB no. 32639)

Summary

The purpose of this study is to determine the natural history, or speed of progression, of Charcot Marie Tooth disease (CMT). The study will follow a group of people over time who have, or are at risk of developing, CMT and will also include a group of participants ("controls") who do not have CMT. Researchers will measure changes in strength, sensation and nerve function at intervals of approximately six months to one year in order to determine the rate of disease progression.


Principal Investigator

Richard Lewis, MD

Contact

Peggy Allred, PT, DPT
424-315-2694
peggy.allred@cshs.org