Betaine METABOLISM OF PATIENTS With Homocystinuria
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 12
- 试验地点
- 1
- 主要终点
- Plasma level of total homocysteine upon oral treatment with Betaine at 100 mg / kg / day compared with 250 mg / kg / day in the same individual.
研究概览
简要总结
Oral treatment with betaine is conventionally used for patients with inherited homocystinurias.
These conditions include a first group of patients with a cystathionine β-synthase (CBS) deficiency and a second group of patients with remethylation defects.
The aim of betaine therapy is to reduce level of total plasma homocysteine. Daily dosages and rhythm of administration proposed in the literature vary between 100 to 250 mg / kg / d in 2 to 4 doses. These dosages are not based on validated data and several publications mention much higher dosages particularly when total homocysteine is not controlled. These practices may be unnecessary or even detrimental given the fact that high doses of betaine could for example lead to secondary folate deficiency.
详细描述
Oral treatment with betaine is conventionally used for patients with inherited homocystinurias.
These conditions include a first group of patients with a cystathionine β-synthase (CBS) deficiency and a second group of patients with remethylation defects.
The aim of betaine therapy is to reduce level of total plasma homocysteine. Daily dosages and rhythm of administration proposed in the literature vary between 100 to 250 mg / kg / d in 2 to 4 doses. These dosages are not based on validated data and several publications mention much higher dosages particularly when total homocysteine is not controlled. These practices may be unnecessary or even detrimental given the fact that high doses of betaine could for example lead to secondary folate deficiency.
研究设计
- 研究类型
- Interventional
- 分配方式
- Randomized
- 干预模型
- Crossover
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 1 Year 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •≥1 year and children <18 years,
- •homocystinuria confirmed enzymatically or molecularly divided into 2 groups:
- •CBS deficiency remethylation defects (CbIC defect and MTHFR deficiency)
- •Diagnosis of homocystinuria since more than 1 year
- •Continuous treatment of hyperhomocysteinemia in the last 12 months
排除标准
- •Deficits in cystathionine beta-synthase B6-responsive
- •pregnancy
- •breast-feeding
- •Young pubescent girls not using effective contraception
研究组 & 干预措施
100 mg/kg of Betaine
Dose 1 : 100 mg/kg of Betaine
干预措施: Betaine (Drug)
250 mg/kg of Betaine
Dose 2 : 250 mg/kg of Betaine
干预措施: Betaine (Drug)
结局指标
主要结局
Plasma level of total homocysteine upon oral treatment with Betaine at 100 mg / kg / day compared with 250 mg / kg / day in the same individual.
时间窗: 10 weeks - at the end of follow-up of each patient
The assay technique used is MS/MS validated according to ISO standard 1589. Samples will be frozen and analysed at the end of follow-up of the study. Freezing does not affect the validity of the technique used.
次要结局
- Measurement of dimethylglycine plasma level following the loading dose of 100 mg / kg of betaine compared in the same person with the dose of 250 mg / kg.(10 weeks - at the end of follow-up of each patient)
- Measurement of sarcosine plasma level following the loading dose of 100 mg / kg of betaine compared in the same person with the dose of 250 mg / kg.(10 weeks - at the end of follow-up of each patient)