Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Observational · No treatment assigned · 1 site · National Human Genome Research Institute (NHGRI)
Official record & contacts on ClinicalTrials.gov ↗
In plain English
What this trial is testing
Condition(s) listed: Hermansky-Pudlak Syndrome (HPS). This is an observational study: researchers collect information (for example questionnaires, samples, or scans) but the study does not assign a treatment.
Who can join
- Ages 1 Month to 115
- Any sex
Some of the main requirements, copied from the record:
- 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…
- Subjects participating only in the HPS Symptom Questionnaire will be at least 18 years of age.
There are also 1 reasons someone might not be able to join (exclusion criteria). Only the trial team can confirm whether you qualify.
What's involved
- About 600 participants are expected to take part.
- The study has 2 groups.
- Start date: 1995-11-06.
- 1 study site listed (1 marked recruiting) in United States.
Groups in this study
- HPS
- HPS Symptom Questionnaire
Main thing being measured
- Natural History (Ongoing)
In the researchers’ words
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…
This summary was written automatically from the official record using fixed templates (no AI), so it only says what the record says, and may leave things out.
Questions to ask your doctor and the trial team
- Am I likely to qualify, given my health history?
- What would I have to do, and how often would I need to visit?
- Could I get a placebo? What happens to my current treatment?
- What are the possible risks and benefits?
- Are travel or other costs covered?
- What happens after the trial ends?
Official details
| Status | Recruiting |
|---|---|
| Phase | Observational |
| Study type | Observational |
| Conditions | Hermansky-Pudlak Syndrome (HPS) |
| Lead sponsor | National Human Genome Research Institute (NHGRI) |
| Enrollment | 600 (estimated) |
| Start date | 1995-11-06 |
| First posted | 1999-11-04 |
| Last updated | 2026-10-13 |
| Official title | Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome |
| ClinicalTrials.gov ID | NCT00001456 |
Interventions
- None listed
Full eligibility criteria (from the record)
* 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.
Locations (1)
| Site | City | Country | Site status |
|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda, Maryland | United States | Recruiting |
For contacts at each site, use the official record.
Information only, not medical advice. Talk to your doctor and the trial team before making any decision about a clinical trial.