Research of SORD-CMT Natural History and Epalrestat Treatment

NCT05777226 | Not Yet Recruiting Phase 2 DMC

• 1 other identifier: quick22474
• Study Type: interventional
• Target: 30
• Locations: 0 countries
• Sites: N/A

Brief 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)

Outcome Measures

Primary Outcomes (2)

• Serum sorbitol levels

  Changes of serum sorbitol levels at 6, 12, 24 and 36 months

  36 months

• Overall Neuropathy Limitations Scale (ONLS) scores

  Changes in ONLS scale scores at 6, 12, 24, and 36 months, The total score for the arm is 5 points and 7 for the leg; the total score ranges from 0 points (no disability) to 12 points (disability)

  36 months

Secondary Outcomes (1)

• The 10-meter walk test (10MWRT)

  36 months

Study Arms (2)

Epalrestat treatment group

EXPERIMENTAL

Epalrestat;Tablet; 50mg; three times a day; 36 months

Drug: Epalrestat

control group

NO INTERVENTION

No Intervention

Interventions

Epalrestat DRUG

Patients in the treatment group are intervened with Epalrestat tablets.

Also known as: Epalrestat Tablets（YANGTZE River Pharmaceutical Group Nanjing Pharmaceutical. Co., Ltd.）

Epalrestat treatment group

Eligibility Criteria

• Age: 14 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• Genetically confirmed SORD-CMT2 patients.
• Male or non-pregnant, non-lactating female patients, aged \> 14 and ≤ 50 years old.
• Rule out secondary peripheral neuropathy (e.g., diabetic peripheral neuropathy)
• Voluntarily participate in clinical trials, sign informed consent, and be able to understand and abide by research procedures.
• P.S. Patients who have a strong willingness to treat and voluntarily purchase epalrestat for treatment (50mg, three times a day) are included in the treatment group.

You may not qualify if:

• Presence of any other cause of peripheral neuropathy.
• Subjects with other neurological disorders affecting the evaluation of study treatment.
• History of clinically significant unstable medical disease that may cause harm to subjects participating in this study within the past 1 year.
• Patients with major trauma or extremity surgery before enrollment or planned for extremity surgery before completion of follow-up.
• Patients with previous bilateral ankle stabilization surgery.
• Patients who were treated with other related drugs in the 3 months before enrollment.
• Have any history of drug abuse; have a history of alcohol dependence in the past 3 months.
• Subjects who are positive for syphilis antibody and HIV antibody.
• Subjects whose chest X-ray and B-ultrasound show tumors.
• Patients with poor compliance and unable to complete the study follow-up.
• Patients who do not agree to participate in the study.

Sponsors & Collaborators

• The Third Xiangya Hospital of Central South University: lead

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Interventions

epalrestat; Long-Term Synaptic Depression

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Neuronal Plasticity; Nervous System Physiological Phenomena; Musculoskeletal and Neural Physiological Phenomena

Central Study Contacts

Zhang Ruxu, PhD

CONTACT

+8618975172668; zhangruxu@vip.163.com

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director, Chief physician of Neurology

Study Record Dates

• First Submitted: February 13, 2023
• First Posted: March 21, 2023
• Study Start: April 1, 2023
• Primary Completion: April 1, 2026
• Study Completion: April 1, 2026
• Last Updated: April 18, 2023

Record last verified: 2023-04

Data Sharing

• IPD Sharing: Will not share