Page 9 - 2021 Summer CMTA Report

Seeking Participants for Biomarker Study:

AN OPEN LETTER TO THE COMMUNITY

Dear Patients and Families affected by
Charcot-Marie-Tooth disease Type 2A (CMT2A),

Type 1B (CMT1B) and Type X (CMTX),

e are reaching out to you about your possible participation in a research project funded
by the Charcot-Marie-Tooth Association called CMT Subtype Biomarkers and Outcome
WMeasures. The three sites in the United States involved with this study are the University
of Iowa, the University of Pennsylvania and the University of Rochester. We invite you to participate
if you have been diagnosed with CMT2A, CMT1B 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 will also include the following:

l One questionnaire (the CMT Health Index) that explores how you think CMT affects you

l CMT Functional Outcome Measure (CMT-FOM), which assesses balance, walking, standing up
from sitting in a chair, and manual dexterity

l Limited nerve conduction studies on one arm and one leg

l 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.

l 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 two visits, a baseline and a follow-up,
of up to four 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:
dragan.vujovic@pennmedicine.upenn.edu
University of Rochester:
Julie_Charles@URMC.Rochester.edu

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SUMMER 2021 THE CMTA REPORT