Multi-center Study of Natural History of SORD-related Charcot-Marie-Tooth Disease and Epalrestat Treatment
试验速览
- 阶段
- 2 期
- 状态
- 尚未招募
- 入组人数
- 30
- 主要终点
- Overall Neuropathy Limitations Scale (ONLS) scores
研究概览
简要总结
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.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 14 Years 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
- •Other factors are not suitable for inclusion.
研究组 & 干预措施
Epalrestat treatment group
Epalrestat;Tablet; 50mg; three times a day; 36 months
干预措施: Epalrestat (Drug)
结局指标
主要结局
Overall Neuropathy Limitations Scale (ONLS) scores
时间窗: 36 months
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)
Serum sorbitol levels
时间窗: 36 months
Changes of serum sorbitol levels at 6, 12, 24 and 36 months
次要结局
- The 10-meter walk test (10MWRT)(36 months)
研究者
Ruxu Zhang
Director, Chief physician of Neurology
The Third Xiangya Hospital of Central South University