Phase 1 Treatment With GTA in Two Infant With Canavan Disease
试验速览
- 阶段
- 1 期
- 入组人数
- 5
- 试验地点
- 2
- 主要终点
- All primary outcome will be evaluated 4 months following the initiation of treatment:
研究概览
简要总结
The purpose of this study is to determine whether oral supplementation of glyceryl triacetate improves the clinical prognosis of Canavan Disease.
详细描述
Canavan Disease is caused by a deficiency in the enzyme named Aspartoacylase (ASPA). This disease is a devastating, progressive disease with no available treatment. As a result of the ASPA deficiency, there are high levels of N-acetylaspartate (NAA) and low levels of L-aspartate and acetate.
We hypothesize that one of the functions of ASPA is to provide sufficient levels of acetate for CNS myelinization. For this reason, we offer to supplement acetate levels by the oral administration of glyceryl triacetate (GTA). Such treatment must be offered to patients before the age of 18 months, prior to the termination of CNS myelinization.
- Two patients, aged less than 15 months, will receive daily doses of oral GTA
- The daily dose will be increased incrementally until the maintenance dose is reached. This will be done under close monitoring of the patients, including periodic blood gas sampling.
- GTA has not been shown to cause any known toxicity, according to the Cosmetic Ingredient Review Expert Panel (Fiume, 2003).
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 0 Years 至 15 Months（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age below 15 months
- •Biochemically diagnosed with Canavan Disease
排除标准
- 未提供
结局指标
主要结局
All primary outcome will be evaluated 4 months following the initiation of treatment:
Neurological Status
Brain Imaging: MRI & MRS
NAA Levels in Urine
Ophthalmologic Examination
次要结局
未报告次要终点