Hermansky-Pudlak syndrome
MONDO:0019312Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.
Also known as: HPS, HPS (Hermansky Pudlak syndrome), Hepatopulmonary Syndrome, Hermansky Pudlak syndrome
8 clinical trials for this condition and its sub-types, 4 tagged with Hermansky-Pudlak syndrome itself.
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Sub-types of Hermansky-Pudlak syndrome
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Hermansky-Pudlak syndrome with pulmonary fibrosis 0 trials · 1 incl. sub-types
2 sub-types
- Hermansky-Pudlak syndrome 1 1 trial
- Hermansky-Pudlak syndrome 4 1 trial
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Hermansky-Pudlak syndrome 10 0 trials
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Hermansky-Pudlak syndrome 11 0 trials
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Hermansky-Pudlak syndrome 2 0 trials
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Hermansky-Pudlak syndrome 7 0 trials
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Hermansky-Pudlak syndrome 8 0 trials
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Hermansky-Pudlak syndrome 9 0 trials
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3 sub-types
- Hermansky-Pudlak syndrome 3 0 trials
- Hermansky-Pudlak syndrome 5 0 trials
- Hermansky-Pudlak syndrome 6 0 trials
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Kotzot-Richter syndrome 0 trials
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Scientists dig into tissue samples to unravel lung scarring mystery
Knowledge-focused OngoingThis study collects and analyzes blood, DNA, and tissue samples from 315 adults with pulmonary fibrosis, their relatives, and healthy volunteers. The goal is to learn more about the disease's causes, not to test a new treatment. Researchers hope the findings will guide future the…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Sep 18, 2026 00:00 UTC
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AI takes on blood clotting: can ChatGPT guide surgeons on bleeding?
Knowledge-focused CancelledThis study evaluates whether artificial intelligence models can accurately interpret ROTEM blood clotting tests and recommend treatments for coagulopathy. Researchers will compare AI decisions to those of a panel of clinical experts using data from adults undergoing elective card…
Sponsor: Ondokuz Mayıs University • Aim: Knowledge-focused
Last updated Jul 04, 2026 00:00 UTC