Medical Information Only. Always consult your healthcare provider before enrolling in any clinical trial.
NCT00001456 · ClinicalTrials.gov registry record
Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
A clinical trial of Hermansky-Pudlak Syndrome (HPS), sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 600
- Enrollment target
- 1
- Study location
NCT00001456 is a study of Hermansky-Pudlak Syndrome (HPS) that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 600 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00001456, a study of Hermansky-Pudlak Syndrome (HPS), is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 600 participants
- Enrollment target
- 1
- Study location
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 |
Interested in This Trial?
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, categorized as an unspecified phase. 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 185 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Hermansky-Pudlak Syndrome (HPS) appearing as the primary indexed condition, and to 0 interventions.
NCT00001456 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
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).
Who is sponsoring clinical trial NCT00001456?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
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.
Learn More About Clinical Trials
Similar trials for Hermansky-Pudlak Syndrome (HPS)
Matched on the same primary condition, ranked to surface studies in the same phase first, then by recruiting status, no relevance scoring or editorial curation.
Read our methodology - how this data is sourced, computed, and verified.
Related
Every figure on PlainTrial is rendered directly from the ClinicalTrials.gov registry, no number is typed in by an editor. This page mirrors this trial's own ClinicalTrials.gov registry record, live from the dataset. See our editorial standards & corrections policy, the methodology behind these numbers, or report a data error.