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Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
NCT00001456 · View on ClinicalTrials.gov ↗
Study Summary
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 is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.\<TAB\>
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 600 participants |
| Start Date | 1995-11-06 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001456
The ClinicalTrials.gov registry entry for NCT00001456 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 600 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 242 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Hermansky-Pudlak Syndrome (HPS) appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00001456 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00001456 about?
NCT00001456 is a clinical study titled "Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome". 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). T...
What is the current status of trial NCT00001456?
This trial is currently recruiting. The enrollment target is 600 participants. The study started on 1995-11-06.
What conditions does trial NCT00001456 study?
This clinical trial studies the following conditions: Hermansky-Pudlak Syndrome (HPS). These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00001456?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 242 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00001456 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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