An observational study in Hermansky-Pudlak Syndrome (HPS), sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 1 site in United States. Open to participants aged 1 Month to 115 Years. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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>
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:
All participants will be persons with HPS, or their family members, aged 1-80 years. The enrollment ceiling is 600; we estimate that approximately 200 subjects will participate only in the HPS Symptom Questionnaire. Family members who are caregivers of affected individuals, including children, may be invited to participate in the HPS Symptom Questionnaire to provide responses related to their affected relative. We anticipate enrolling 2-10 new subjects per year under this protocol.
17 studies on the registry are indexed under Albinism; 8 are open to participants now.
This study's planned enrollment of 600 is above the median of 140 across 10 observational studies indexed under Albinism.
Browse Albinism studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
HPS patients of any sex and ethnicity age 1-80 years
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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 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.
EXCLUSION CRITERIA
Pregnant women and adults who are unable to provide consent are excluded.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HPS patients of any sex and ethnicity age 1-80 years
Includes both patients and family members or caregivers.
Natural History
The natural history of Hermansky-Pudlak Syndrome (HPS)
Time frame: Ongoing
Plan to share: Undecided — pending
Started Nov 1995 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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