Dear Patients and Families affected by Charcot Marie Tooth Disease Type 2A, 2F, 1B and X,
We wanted to reach out to you about your possible participation in a research project funded by the Charcot Marie Tooth Association called CMT Subtype Biomarkers and Outcome Measures. The three sites in the United States involved with this study are the University of Iowa, University of Pennsylvania, and the University of Rochester. We would like to invite you to participate if you have been diagnosed with CMT2A, CMT2F, CMTIB, OR CMTX. Unfortunately, those are the only eligible participants at this time.
The purpose of this study is to determine the best way to measure the progression of these subtypes of CMT over time. In addition to the measurements that are currently used during regular clinical visits such as assessing strength and sensation, this study would also include the following:
- One questionnaire (the CMT Health Index) that explores how you think CMT affects you
- CMT Functional Outcome Measure (CMT-FOM) which assesses balance, walking, standing up from sitting in a chair, and manual dexterity
- Limited nerve conduction studies on one arm and one leg
- A sticker will be placed on your skin on one arm and one leg and an electrical impulse will be emitted. This measures the speed and strength of the signal in two nerves.
- An MRI scan of your lower legs
We believe this study is important to help us to prepare for clinical trials because we still do not know the best way to measure progression of symptoms in people with these subtypes of CMT. We appreciate your interest in our research and would like to invite you to participate in CMT Subtype Biomarkers and Outcome Measures which requires 2 visits, a baseline and a follow-up, of up to 4 hours over a one-year period. You may also combine this with your annual trip to the CMT clinic and continue your participation in the Inherited Neuropathy Consortium (INC) (https://www.rarediseasesnetwork.org/cms/inc) if already involved or enroll in the INC while completing one of the visits for this study. If you are interested in this project, please contact our study coordinators via email:
University of Iowa: CMTRes@healthcare.uiowa.edu
University of Pennsylvania: Pooja.Patel1@Pennmedicine.upenn.edu
University of Rochester: elizabethp_wood@urmc.rochester.edu
UCL Queen Square Institute of Neurology: this site has completed its patient recruitment.