Natural History of Wilson Disease: Registry for Patients With Wilson Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 12
- 主要终点
- Create registry for Wilson disease
研究概览
简要总结
The purpose of the registry/repository is to provide a mechanism to store data and specimens to support the conduct of future research about Wilson disease (WD). The overall aim is to determine the optimal testing for diagnosis and parameters for monitoring treatment of WD that will aid product utilization and development.
详细描述
There are three aims outlined as part of this research study.
Aim 1 is to study the natural history of a carefully characterized cohort of patients with WD followed longitudinally at Centers of Excellence for WD in the United States and in the United Kingdom.
Aim 2 seeks to evaluate parameters for diagnosis and treatment monitoring for patients on chelation therapy and zinc treatment for their WD. Data gathered in Specific aim 1 will be used for analyzing the components of the diagnostic scores for patients.
Aim 3 is intended to determine whether a composite index or a biomarker can be used as surrogate marker for treatment monitoring for current patients on therapy that can be used for future patient treatment trials.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Known diagnosis of WD
- •Able and willing to provide informed consent for adults (Parental/guardian permission (informed consent) and if appropriate, child assent for participants <18 (or per local Institutional Review Board (IRB) regulation)
排除标准
- •Diagnosis of WD has been excluded
- •Unwilling to provide informed consent or assent
结局指标
主要结局
Create registry for Wilson disease
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 Wilson disease.
次要结局
未报告次要终点