NCT05777226

Research of SORD-CMT Natural History and Epalrestat Treatment

Multi-center Study of Natural History of SORD-related Charcot-Marie-Tooth Disease and Epalrestat Treatment

• Status: Not Yet Recruiting
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 30 (estimated)
• Sponsor: The Third Xiangya Hospital of Central South University · Academic / Other
• Sex: All
• Age: 14 Years – 50 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Charcot-Marie-Tooth Disease (CMT)

Interventions

Type	Name	Description
DRUG	Epalrestat	Patients in the treatment group are intervened with Epalrestat tablets.

Timeline

• Start date: 2023-04-01
• Primary completion: 2026-04-01
• Completion: 2026-04-01
• First posted: 2023-03-21
• Last updated: 2023-04-18