Vitamin E Treatment for LCHAD Associated Neuropathy
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 1
- 试验地点
- 2
- 主要终点
- Plasma Vitamin E Concentrations
研究概览
简要总结
Purpose:
People with a genetic defect in the ability to burn fat can also develop a problem with the nerves in their feet. The nerve problem, or neuropathy, can limit their ability to walk. Part of the treatment of their genetic defect in the ability to burn fat is to eat a very low fat diet. Vitamin E is found only in fatty foods like oils and nuts. People with a genetic defect in the ability to burn fat may have low vitamin E because of their low fat diet. The purpose of this study is to test whether vitamin E supplements can improve the nerve function in the feet of people with a genetic defect in the ability to burn fat.
Procedures:
Blood samples will be drawn at the beginning of the study, after 2 months and after 6 months of vitamin E supplements. The blood will be analyzed for plasma vitamin E concentrations. Around the time of each blood draw subjects will record all the food and beverages he or she consumes for three days. The subject will send the record to the investigator. Subjects will have a physical exam by a doctor specializing in nerves, a neurologist before and after taking vitamin E. They will have nerve function measured with a test called a nerve conduction velocity or NCV. Subjects will be given 800 international units (IU) of vitamin E per day for 6 months.
详细描述
People with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) or mitochondrial trifunctional protein (TFP) deficiency, inherited disorders of fatty acid ß-oxidation, lack an ability to fully oxidize fatty acids for energy. Progressive peripheral neuropathy is a chronic complication of these disorders that can lead to loss of the ability to walk in about 1/3 of the subjects. Current therapy for people with these disorders is based on frequent meals and consuming a low fat, very high carbohydrate diet. Severe restriction of dietary fat may lead to an iatrogenic fat-soluble vitamin deficiency. Vitamin E is a fat-soluble vitamin found in cooking oils, salad dressings, and nuts. Deficiency of vitamin E can result in a peripheral neuropathy similar to that described in subjects with LCHAD and TFP deficiency.
Hypothesis: Subjects with LCHAD or TFP deficiency are vitamin E deficient due to following a very low fat diet. Vitamin E deficiency exacerbates the peripheral neuropathy observed in this disease. High dose vitamin E supplementation will replete the vitamin E deficiency and improve neurological function in subjects with LCHAD or TFP deficiency.
Aim: Measure vitamin E concentrations and neurological function at baseline in 10 subjects with LCHAD or TFP deficiency. Following baseline measures, all subjects will be supplemented with high dose vitamin E (400 IU capsules 2 times per day) for 6 months. Vitamin E concentrations and neurological function studies will be repeated at the end of 6 months. Data from before and after vitamin E supplementation will be compared by students T-test.
Vitamin E functions as an antioxidant and has been used in multiple large supplementation trials. The upper limit of intake recommended as safe by the Institute of Medicine (IOM) is 600 mg or approximately 900 IU of vitamin E for children 9-13 years of age. We previously reported dietary intake of this vitamin was extremely low in children with LCHAD and TFP deficiency and should be supplemented (5). An iatrogenic vitamin E deficiency may exacerbate and/or accelerate neuropathic symptoms in subjects with LCHAD or TFP deficiency. This open-label trial tests the hypothesis that high dose vitamin E will improve neurological function in subjects with LCHAD and TFP deficiency who have progressive peripheral neuropathy.
Research Design and Methods:
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 7 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of TFP, or LCHAD deficiency and progressive peripheral neuropathy
- •Subjects must be > 7 years of age, and be willing to take vitamin E supplements.
排除标准
- 未提供
结局指标
主要结局
Plasma Vitamin E Concentrations
时间窗: 6 months
次要结局
- Neurological examinations: Sensory exam, muscle weakness exam and deep tendon reflex exam(6 months)