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Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Who can join
1 Month – 115 Years · All sexes
Full eligibility criteria
* 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. EXCLUSION CRITERIA Pregnant women and adults who are unable to provide consent are excluded.
About the study
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\>
Sponsor: National Human Genome Research Institute (NHGRI) · Participants: 600 · Started: Nov 6, 1995
Contact the study team
- Wendy J Introne, M.D. · Phone: (301) 451-8879
Official record on ClinicalTrials.gov — NCT00001456
Locations in the U.S.
| Maryland | National Institutes of Health Clinical Center, Bethesda |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.