Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Research on Medical Complications and Genetic Causes

What this Trial Is About

Hermansky-Pudlak Syndrome (HPS) is a rare inherited disorder that causes decreased pigmentation, bleeding problems due to a platelet abnormality, and buildup of an abnormal fat-protein compound in the body. This disease can affect the lungs, intestines, kidneys, and heart, with pulmonary fibrosis being the most serious complication often leading to death between the ages of 40 and 50. The condition is more common in Puerto Rico, and currently, there is no known treatment or complete understanding of the disease's causes or full effects. The study aims to evaluate individuals with HPS or their family members to better understand the medical complications and genetic causes of the disease. Researchers will perform genetic testing to identify mutations in known HPS genes and search for other genetic variants. They will also collect samples such as blood, cells, and urine for future research to analyze the basic mechanisms and severity of HPS. Participants aged 1 to 80 years with HPS or family caregivers can join the study, with about 200 people expected to complete only a symptom questionnaire. Evaluations include clinical assessments, genetic testing, and sample collection. The study seeks to track the natural history of HPS, monitor disease severity, and investigate underlying defects. Pregnant women and adults unable to consent are excluded. The study plans to enroll up to 600 participants and follows them over time to gather ongoing data.

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome