Page 27 - 2021 Spring CMTA Report - Special Research Edition

those patients over time (longitudinal) in those
patients (see related story page 32). Several
academic centers and companies have reached
out to the INC to develop clinical trials for CMT2A,
which will likely be instituted within the next two to
three years. However, disease biomarkers for
CMT2A are needed to demonstrate biological
effects of candidate therapies and to provide
additional sensitive natural history data of
disease progression.
Led by CMTA Board Members Drs. Michael Shy
of the University of Iowa and John Svaren of the
University of Wisconsin, the study will examine a
number of different biomarkers, including: protein
biomarkers identified in blood samples, such as
neurofilament light, which can be used to measure
axonal damage; RNA biomarkers identified from
skin biopsies and MRI imaging of patients’ legs
because the accumulation of fat within muscles
damaged by neuropathy can be measured very
precisely.
To bring this state-of-the-art program to CMT2A
(as has already been done with CMT1A, and
recently approved for 1B), study authors will
evaluate 60 patients with CMT2A over two
years to:
• Measure progression in a combination of
clinical outcome assessments, including the
Rasch modified CMT Examination Score
(CMTES-R), CMT Functional Outcome Scale
(CMT-FOM), and patient-reported CMT Health
Index;
• Measure known biomarkers like neurofilament
light and identify novel plasma biomarkers;
• Adapt a nanostring platform for skin biopsy
analysis to help identify patients most able to
benefit from a given therapy; and
• Take repeated MRI images over a 12-month
period to identify increases in intramuscular fat
accumulation (IMFA) of patients’ lower limbs.

CMTA partners are working on developing molecules that regulate
recently identified biochemical triggers of axon degeneration.
Last fall the CMTA Board of Directors awarded $227,170
to two researchers who believe that CMT4A is an ideal candidate
for potential gene therapy approaches.
The CMTA Board of Directors recently awarded $559,555 for a
study on identifying disease biomarkers for CMT2A.

27