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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Epalrestat treatment group | Experimental | Epalrestat;Tablet; 50mg; three times a day; 36 months |
|
| control group | No Intervention | No Intervention |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Epalrestat | Drug | Patients in the treatment group are intervened with Epalrestat tablets. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Measure | Description | Time Frame |
|---|---|---|
| The 10-meter walk test (10MWRT) | Changes in the 10-meter walk test (10MWRT) at 6, 12, 24, and 36 months | 36 months |
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Inclusion Criteria:
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.
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Zhang Ruxu, PhD | Contact | +8618975172668 | zhangruxu@vip.163.com |
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| ID | Term |
|---|---|
| D002607 | Charcot-Marie-Tooth Disease |
| ID | Term |
|---|---|
| D015417 | Hereditary Sensory and Motor Neuropathy |
| D009421 | Nervous System Malformations |
| D009422 | Nervous System Diseases |
| D020271 | Heredodegenerative Disorders, Nervous System |
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| ID | Term |
|---|---|
| C038131 | epalrestat |
| D036881 | Long-Term Synaptic Depression |
| ID | Term |
|---|---|
| D009473 | Neuronal Plasticity |
| D009424 | Nervous System Physiological Phenomena |
| D055687 | Musculoskeletal and Neural Physiological Phenomena |
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| D019636 | Neurodegenerative Diseases |
| D011115 | Polyneuropathies |
| D010523 | Peripheral Nervous System Diseases |
| D009468 | Neuromuscular Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |