RecruitingNCT00001456
Respiratory
Hermansky-Pudlak Syndrome
Also known as HPS, oculocutaneous albinism with pulmonary fibrosis and platelet dysfunction
Hermansky-Pudlak syndrome is a multisystem disorder characterised by oculocutaneous albinism, a platelet storage pool defect, and the accumulation of ceroid lipofuscin in tissues. Pulmonary fibrosis, the leading cause of death, develops in
ORPHA:79430 ↗Gene HPS1Gene HPS3Gene HPS4 (multiple)Prevalence Approximately 1 in 500,000–1,000,000; higher in Puerto Rico (1 in 1,800)Onset Childhood (pulmonary fibrosis typically adult onset)
1
studies recruiting now
as of 7 Sept 2026
11
studies registered in total
as of 7 Sept 2026
1
countries with a recruiting site
as of 7 Sept 2026
4 Nov 1999
most recent study posted
among recruiting studies
Recruiting trials
Showing the 1 most recently updated recruiting study, as recorded 7 Sept 2026. Live status on each study page.
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About Hermansky-Pudlak Syndrome
Hermansky-Pudlak syndrome is a multisystem disorder characterised by oculocutaneous albinism, a platelet storage pool defect, and the accumulation of ceroid lipofuscin in tissues. Pulmonary fibrosis, the leading cause of death, develops in adulthood and is most severe in individuals with HPS-1 and HPS-4 subtypes. The interstitial lung disease in HPS closely resembles idiopathic pulmonary fibrosis histologically, making subtype classification critical for both prognosis and trial eligibility.
Common clinical features
Oculocutaneous albinism (reduced skin and hair pigmentation)Visual impairment and nystagmusPlatelet dysfunction causing easy bruising and prolonged bleedingProgressive interstitial pulmonary fibrosisGranulomatous colitisRecurrent respiratory infectionsFatigue and declining exercise capacity
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Sorafenib
Phase 2Norfloxacin (Baccidal)
Phase 2Letrozole (Femara)
Phase 2Bosentan (Stayveer)
Phase 1Pentoxifylline (Neotren mr)
Before you apply
Things trial teams commonly ask about for Hermansky-Pudlak Syndrome. Not eligibility rules; those are set by each study.
- Identify your HPS subtype (HPS-1 through HPS-10) before applying, as trials targeting pulmonary fibrosis often restrict enrolment to fibrosis-prone subtypes (HPS-1, HPS-4).
- Bleeding risk from platelet dysfunction may disqualify patients from trials requiring invasive procedures such as bronchoscopy or biopsy; disclose platelet function test results upfront.
- HRCT evidence of pulmonary fibrosis and recent PFTs are standard screening requirements; ensure imaging is within the trial's specified time window.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).