PURICA : Purine Supplementation in Patients With AICA-Ribosiduria
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 10
- 试验地点
- 2
- 主要终点
- Urinary concentration
研究概览
简要总结
AICA-Ribosiduria due to ATIC deficiency is a rare genetic metabolic disease that affects less than 10 patients (PMID: 32557644). It results in severe polyhandicap linked to neurodevelopmental disorders, visual impairment, growth retardation, severe spinal deformities and scoliosis, and often early-onset epilepsy. The disease is caused by dysfunction of the ATIC enzyme, which is involved in de novo purine biosynthesis. A recent study (PMID: 38244287) reported a decrease in disease biomarkers in a single patient after 3 months on a purine-rich diet, which persisted for at least 1 year. The investigators propose to replicate this study on several patients to investigate the potential of this treatment for this severe orphan disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Sequential
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 3 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individual affected by AICA-ribosiduria due to ATIC deficiency
排除标准
- •- Individual already on a purine-rich diet theoretical contraindication to a purine-rich diet
研究组 & 干预措施
Individual with AICA-ribosiduria due to ATIC deficiency
Individual with AICA-ribosiduria due to ATIC deficiency
干预措施: purine-rich diet (Dietary Supplement)
结局指标
主要结局
Urinary concentration
时间窗: 6 months
Urinary concentration of AICA-Riboside and Succinyladenoside in mmol/mol (same unit for both).
次要结局
- Number of hospitalizations(12 months)
- Quality of life score(6 months)