Investigating Lysosomal Storage Diseases in Minority Groups
试验速览
- 阶段
- 不适用
- 入组人数
- 20,000
- 试验地点
- 1
- 主要终点
- Number of patients identified with lysosomal storage disorders
研究概览
简要总结
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US. Frequently, patients show progressive worsening of symptoms for several years before they get diagnosed. Since many of these diseases can be managed therapeutically, it is important to identify and treat patients in order to avoid organ damage. The investigators aim to undertake a screening study that identifies undiagnosed patients with lysosomal storage disorders and determine the prevalence of these diseases with special focus on underrepresented minority groups.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Day 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Subject is greater than or equal to 1 day of age and less than or equal to 100 years of age
- •Subject is managed by a physician in the Washington, D.C metro area
- •Subject is getting blood work as part of standard clinical care and there is at least 60 uL blood remained in a tube after all clinical tests were run
排除标准
- •Absolute contraindication for blood drawing
- •Subject cannot be traced back by the referring physician upon a positive screening result
结局指标
主要结局
Number of patients identified with lysosomal storage disorders
时间窗: 2 years
次要结局
未报告次要终点