Dominant mutations in HSPB1 have been reported to cause CMT2F. Other mutations also known to cause CMT2F produce a more purely motor phenotype, HMN IIb. The clinical onset of weakness ranges from the second to the fourth decade, followed by the development of prominent weakness in the distal muscles of the legs then arms.
Below we share with you the 2021 research projects the CMTA is currently funding.
PROJECT GOAL: DEVELOP CMT2F BIOMARKERS FOR CLINICAL TRIAL READINESS
Grant Amount: $292,099
Principal Investigators: Michael Shy, MD, University of Iowa; John Svaren, PhD, University of Wisconsin
In order to prepare for clinical trials for CMT, there is ongoing work to develop more sensitive outcome measures, and there is a need for complementary biomarkers, particularly target engagement measures that can be used in clinical trials for candidate therapies. Drs. Shy and Svaren will characterize CMT outcome measures in cross sectional and longitudinal studies of 25 subjects with CMT2F and develop and characterize biomarkers for CMT1X.
PROJECT GOAL: THERAPEUTIC INACTIVATION OF CMT2 DISEASE ALLELES WITH CRISPR
Grant Amount: $664,261
Principal Investigators: Luke Judge, MD, PhD, University of California-San Francisco; Bruce Conklin, MD, University of California-San Francisco
Drs. Judge and Conklin will optimize allele-specific CRISPR inactivation of dominant CMT2 mutations in vitro and determine whether in vivo delivery of disease-specific CRISPR reagents can prevent disease pathology in a rodent model of CMT2F.
This is an in-depth STAR research update led by CMTA Board Chair Gilles Bouchard and accompanied by CMT scientists and researchers Drs. Svaren, Kleopa, Scherer and Züchner. They share a detailed presentation about the CMTA’s STAR research program and provide updates on the studies being done on CMT by type.