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.
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Scientists launch deep dive into rare bleeding and lung disease
Knowledge-focused Recruiting nowThis study aims to learn more about Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes light skin/eye color, bleeding problems, and often deadly lung scarring. Researchers will follow 600 people with HPS and their family members to track how the disease progres…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Aug 08, 2026 00:03 UTC
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Massive eye gene bank aims to unlock secrets of rare blindness
Knowledge-focused Recruiting nowThis study aims to collect DNA samples and detailed eye exam data from 1,000 people with rare inherited eye diseases like aniridia, Best disease, and albinism. Participants provide a saliva or blood sample and share their eye health records. The goal is to expand a research repos…
Sponsor: National Eye Institute (NEI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
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Scientists dig into genetic roots of rare bleeding disorders
Knowledge-focused Recruiting nowThis study looks at how blood cells interact and what goes wrong in inherited bleeding disorders like Glanzmann thrombasthenia. Researchers will analyze blood samples from up to 60 healthy volunteers and patients to find genetic defects. The goal is to better understand these con…
Sponsor: Rockefeller University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:55 UTC