Natural History of CMT

Condition/Intervention:

  • Charcot-Marie-Tooth disease

Study Name:

A Natural History Study of CMT 1B, CMT 2A, CMT 4A, and CMT 4C

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.

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.

Exclusion Criteria:

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

Please see complete list of inclusion and exclusion criteria.

Principal Investigator:

Richard Lewis, MD

Co-Investigators:

Peggy Allred, PT, DPT
Robert Baloh, MD, PhD
Glenn Pfeffer, MD
Tyler Pierson, MD

Study Coordinator and Contact:

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

Status:

Active

IRB No.:

32639

Date Last Updated:

05/15