Hereditary Hepatorenal Tyrosinemia Natural History (Multicenter Clinical Study): Registry for Patients With Tyrosinemia Type I in Egypt and the Arab World
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Create a registry for tyrosinemia type I.
研究概览
简要总结
The purpose of the registry/repository is to understand the natural history of tyrosinemia in our region and to provide a mechanism to store data and specimens to support the conduct of future research about hereditary tyrosinemia among the Arabs.
详细描述
The purpose of this study is to create an electronic registry of phenotypic, laboratory information, treatment and outcomes options for tyrosinemia type I. The registry is longitudinal in nature including retrospective clinical data from birth to the most recent encounter with all data entered in chronological fashion. The goals of this registry are the better understanding of the natural history and treatment outcomes of these patients and to determine/evaluate biochemical and clinical parameters for monitoring and prognosis of tyrosinemia type I.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Biochemical or molecular diagnosis of Tyrosinemia Type I.
- •Examined/followed by one of the participating sites.
- •Parental/guardian permission (informed consent) for participation.
排除标准
- •Diagnosis of tyrosinemia has been excluded.
- •Not examined/followed by one of the participating sites.
- •Unwilling to provide informed consent for participation.
结局指标
主要结局
Create a registry for tyrosinemia type I.
时间窗: 5 Years
This outcome is a binary 'yes/no' outcome as to whether or not this study can successfully create a repository with the intent to store data and specimens to support the conduct of future research on tyrosinemia type I.
次要结局
未报告次要终点
研究者
Dr. Tawhida Yassin Abdel Ghaffar
Professor
Yassin Abdelghaffar Charity Center for Liver Disease and Research