Actively Recruiting
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Led by National Human Genome Research Institute (NHGRI) · Updated on 2026-04-22
600
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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\>
CONDITIONS
Official Title
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Persons with Hermansky-Pudlak Syndrome or family members who are their caregivers aged 1-80 years
- Diagnosis based on platelet dense body deficiency or genetic testing for HPS genes
- Some undiagnosed persons with albinism and platelet storage pool deficiency may be eligible
- Participants in the symptom questionnaire must be at least 18 years old
You will not qualify if you...
- Pregnant women
- Adults unable to provide consent
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
W
Wendy J Introne, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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