Research of SORD-CMT Natural History and Epalrestat Treatment
Status:
Not yet recruiting
Trial end date:
2026-03-01
Target enrollment:
Participant gender:
Summary
Charcot-Marie-Tooth disease (CMT) is a group of the most common hereditary peripheral
neuropathy with high clinical and genetic heterogeneity. Biallelic pathogenic variants in
SORD gene leading to loss of function of SORD protein cause axonal degeneration. Current
research suggests that SORD-CMT2 may be the most common subtype of AR-CMT2. The primary
purpose of this study is to explore the natural history of SORD-CMT2 patients by detecting
the ONLS scale score and serum sorbitol level changes at 6th, 12th, 24th, and 36th months and
to evaluate the effectiveness and safety of epalrestat. Patients with strong treatment
willingness and voluntary purchase of drugs are included in the epalrestat treatment group,
and patients without drug treatment willingness are included in the control group. Patients
in the drug treatment group take epalrestat (50 mg) orally three times daily. This study is
expected to be carried out simultaneously in 5 hospitals in mainland China. About 30
SORD-CMT2 patients will be enrolled in this study, and the study period will be 36 months.
Phase:
Phase 2
Details
Lead Sponsor:
The Third Xiangya Hospital of Central South University