Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- Natural History
研究概览
简要总结
Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.
The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.<TAB>
详细描述
Study Description:
Hermansky-Pudlak syndrome is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary fibrosis (often fatal in the fourth or fifth decade), chronic granulomatous colitis and, rarely, renal involvement or cardiomyopathy. The purpose of this protocol is to evaluate individuals with HPS, perform mutation analysis for known HPS-causing genes, search for variants in other genes responsible for HPS, and obtain specimens to analyze basic mechanisms of HPS.
Objectives:
Primary Objective: Assess the clinical severity of HPS, to study the natural history of disease, to identify variants in genes associated with HPS, and to investigate basic defect(s) in HPS and mechanisms of disease.
Study Population:
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
- 1 Month 至 115 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •INCLUSION CRITERIA
- •Persons with HPS or family members who are their caregivers aged 1-80 years are eligible to enroll in this protocol. The diagnosis of HPS is based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy or the identification of pathogenic variants in HPS genes by genetic testing. Some persons who have not been diagnosed with HPS may be admitted to the protocol based upon the presence of albinism and a platelet storage pool deficiency.
- •Subjects participating only in the HPS Symptom Questionnaire will be at least 18 years of age.
排除标准
- •Pregnant women and adults who are unable to provide consent are excluded.
研究组 & 干预措施
HPS Symptom Questionnaire
Includes both patients and family members or caregivers.
HPS
HPS patients of any sex and ethnicity age 1-80 years
结局指标
主要结局
Natural History
时间窗: Ongoing
The natural history of Hermansky-Pudlak Syndrome (HPS)
次要结局
未报告次要终点