Does Arginine Enhance Galactose Oxidative Capacity in Classic Galactosemia: A Pilot Study
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- whole body galactose oxidative capacity
研究概览
简要总结
Rationale: Classic galactosemia is a rare inherited metabolic disease that presents in neonatal patients with a life-threatening multi-organ toxic syndrome. Although the current standard of care - a galactose-restricted diet - quickly relieves the severe neonatal clinical picture, it fails to prevent brain and gonadal sequelae. There is a need for new therapeutic strategies.
As arginine is an amino acid that is therapeutically widely used with no side effects described, we propose to use it in a pilot-clinical study. We aim to evaluate the effects of arginine in classic galactosemia patients, in order to determine its potential therapeutic role in this disease.
Objective: To evaluate the possible effect of arginine on the whole body galactose oxidative capacity in classic galactosemia patients.
Study design: Interventional pilot-clinical study with pre-post single arm design.
Study population: We aim to include 5 classic galactosemia adult patients homozygous for the p.Q188R mutation.
Intervention: All participants will receive arginine in the form of Asparten ® (arginine aspartate) during 1 month, by oral administration.
The main study parameter is whole body galactose galactose oxidative capacity.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Classic galactosemia patient homozygous for the p.Q188R mutation, diagnosed by GALT enzyme activity assay and GALT gene mutation analysis
- •Eighteen years of age or older
- •Capable of giving informed consent
排除标准
- •Urea cycle disorders (assessed by post prandial amino acid profile in blood)
- •Increased level of plasma uric acid
- •Patients experiencing acute illness of classic galactosemia
- •Pregnant women (or considering getting pregnant) or breastfeeding women
研究组 & 干预措施
Asparten
Asparten (arginine aspartate) 5000mg/10mL 3x/day
干预措施: Arginine Aspartate (Drug)
结局指标
主要结局
whole body galactose oxidative capacity
时间窗: 6 hours
Whole body galactose oxidative capacity is breathing test that quantifies \[1-13C\]-galactose conversion into 13CO2, thus allowing to delineate the exact extent of impaired galactose metabolism, providing clear information on a patient's ability to oxidize galactose.
次要结局
未报告次要终点
研究者
Ana Coelho
Coordinating Investigator
Academisch Ziekenhuis Maastricht