A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 55
- 试验地点
- 5
- 主要终点
- Chest CT scan
研究概览
简要总结
Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. Pulmonary fibrosis causes shortness of breath and progressive decline in lung function. In HPS patients with at-risk subtypes, almost all adults eventually develop fatal pulmonary fibrosis unless they undergo lung transplantation.
The purpose of this study is to identify the earliest measurable pulmonary disease activity in individuals at-risk for HPS pulmonary fibrosis. The study also aims to develop biomarkers that will aid in understanding of the causes of HPS pulmonary fibrosis and facilitate more rapid conduct of therapeutic trials in HPS patients with mild pulmonary disease in the future.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 12 Years 至 90 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Individuals ages 12-90 years with confirmed diagnosis of HPS as defined by verification of reduced or absent platelet dense granules by electron microscopy and/or genetic diagnosis
- •Ability to provide informed consent, or consent of parent/guardian and assent for minors
排除标准
- •Status-post lung transplantation
- •Perceived unsuitability for participation in the study in the opinion of the investigator
结局指标
主要结局
Chest CT scan
时间窗: change in CT Scan from baseline to 2.5 years
次要结局
- Pulmonary function test(change in PFTs from baseline to 2.5 years)
研究者
Lisa Young
Associate Professor
Vanderbilt University