Condition (MeSH)
Hermanski-Pudlak Syndrome
ClinicalTrials.gov lists 11 trials for Hermanski-Pudlak Syndrome or a narrower condition beneath it. National Human Genome Research Institute (NHGRI) has the most among industry and government lead sponsors, with 5.
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Trials per phase
11 of the 11 trials are tagged with Hermanski-Pudlak Syndrome itself; the rest are tagged with a narrower condition beneath it.
When did Hermanski-Pudlak Syndrome trials start? (9)
Shown in this order: most recent first, 1990 onwards. 2026 is partial: trials registered with a 2026 start date so far, not a full year.
Trials over time, by phase
- Phase 1/2
- Phase 2
- Observational
Top of scale: 2
Trials registered with a start date in each year, 1990 onward, stacked by phase (complete years only; the current partial year is in the table's notes). The table below lists the same counts, most recent years first.
| Year | Trials started |
|---|---|
| 2020 | 1 |
| 2019 | 1 |
| 2018 | 1 |
| 2015 | 1 |
| 2011 | 1 |
| 2007 | 2 |
| 2005 | 1 |
| 2004 | 2 |
| 1995 | 1 |
No forecast is made for this condition: it averages 0.0 trial starts a year over the five years to September, under the 5 a year the method needs.
Recruitment duration, a model prediction: none of the 11 trials evaluated at the 2026-10-09 snapshot is predicted and still running. Source: ClinicalTrials.gov / AACT (CTTI), public domain.
What phase are Hermanski-Pudlak Syndrome trials in? (3)
Shown in this order: phase order.
Show the trials by phase as a table
| Phase | Trials |
|---|---|
| Phase 1/2 | 1 |
| Phase 2 | 3 |
| Observational | 7 |
How many Hermanski-Pudlak Syndrome trials are recruiting? (6)
Shown in this order: the order a trial moves through, from not yet recruiting to unknown.
| Status | Trials |
|---|---|
| Recruiting | 1 |
| Active, not recruiting | 2 |
| Completed | 5 |
| Terminated | 1 |
| Withdrawn | 1 |
Showing 5 of 6 statuses.
Status as registered on ClinicalTrials.gov. Each trial is counted once.
Which lead sponsors run the most Hermanski-Pudlak Syndrome trials? (4)
Shown in this order: most trials first. Lead sponsors the registry classes as industry, NIH, US federal, other government or network. A hospital or university the registry files as government can appear here. Sponsors it classes as academic or other are shown on the full page, because that class cannot separate an institution from a named investigator.
| Sponsor | Trials |
|---|---|
| National Human Genome Research Institute (NHGRI) | 5 |
| 23andMe, Inc. | 1 |
| National Institute of Allergy and Infectious Diseases (NIAID) | 1 |
| William Gahl, M.D. | 1 |
Which drugs are being tested for Hermanski-Pudlak Syndrome? (3)
Shown in this order: most trials first. One row per drug, matched to a single molecule under all its names, ranked by number of trials.
| Drug | Trials |
|---|---|
| INFLIXIMAB | 1 |
| MERCAPTOPURINE | 1 |
| Zileuton | 1 |
Interventions as named in the registry (10)
Shown in this order: most trials first.
| Drug | Trials |
|---|---|
| Pirfenidoneone | 2 |
| Adalimumab-US | 1 |
| Pravastatin Pill | 1 |
| Low dose losartan | 1 |
| N Acetylcysteine | 1 |
Showing 5 of 10 interventions.
These are the names sponsors entered on ClinicalTrials.gov that we have not matched to a single molecule. Some are drugs under a brand or code name; others are procedures, doses or arm labels.
Which serious adverse events do Hermanski-Pudlak Syndrome trials report? (5)
Shown in this order: most subjects affected first. Subjects affected summed across trials, a cross-trial signal, not a rate.
| Adverse event | Subjects affected | Trials |
|---|---|---|
| Respiratory failure | 5 | 2 |
| Blood creatinine phosphokinase increased | 2 | 1 |
| Chest pain | 2 | 1 |
| Deep vein thrombosis | 1 | 1 |
| Haematochezia | 1 | 1 |
Which publications cover Hermanski-Pudlak Syndrome? (9)
Shown in this order: major-topic papers first, then newest, then most linked to trials.
| Publication | Journal | Year | Major topic |
|---|---|---|---|
| Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. | American journal of medical genetics. Part A | 2018 | Yes |
| Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. | Pigment cell & melanoma research | 2017 | Yes |
| Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). | Nature genetics | 2003 | Yes |
| A novel immunocytochemical assay for the detection of serotonin in platelets. | British journal of haematology | 2002 | Yes |
| Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. | Current molecular medicine | 2002 | Yes |
Showing 5 of 9 publications.
Prevalence (6)
Shown in this order: jurisdiction, then disease name. Orphanet observation for the mapped ORPHA concept; the mapping relation column says whether that concept is exactly this condition or broader or narrower.
| Orphanet disease | Type | Class | Geography | Jurisdiction | Mapping relation |
|---|---|---|---|---|---|
| Hermansky-Pudlak syndrome | Point prevalence | 1-5 / 10 000 | Puerto rico | Not stated | Exact |
| Hermansky-Pudlak syndrome | Point prevalence | 1-9 / 1 000 000 | Worldwide | Not stated | Exact |
| Hermansky-Pudlak syndrome | Point prevalence | 1-9 / 1 000 000 | Worldwide | Not stated | Unspecified |
| Hermansky-Pudlak syndrome | Point prevalence | 1-9 / 1 000 000 | Worldwide | Not stated | Exact |
| Hermansky-Pudlak syndrome | Point prevalence | 1-5 / 10 000 | Puerto rico | Not stated | Unspecified |
Showing 5 of 6 prevalence observations.
Rare-disease identity (2)
Shown in this order: exact, broader, narrower, other.
| Orphanet disease | ORPHA code | Relation | Source |
|---|---|---|---|
| Hermansky-Pudlak syndrome | 79430 | Exact | Orphadata Science knowledge files, Product 1 |
| Hermansky-Pudlak syndrome | 79430 | Exact | Orphanet Rare Disease Ontology (ORDO) |
Not on this page
Not measured: delivery record.
Checked, with nothing recorded for this condition: sub-conditions in mesh.