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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: Recruiting study of Hermansky-Pudlak Syndrome (HPS), sponsored by National Human Genome Research Institute (NHGRI).
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. According to ClinicalTrials.gov, the official US trial registry.
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\>
Primary Outcome
The natural history of Hermansky-Pudlak Syndrome (HPS)
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 |
What NCT00001456 shows while recruiting
NCT00001456 is an observational study that tracks outcomes without assigning an intervention. The registered 600 participants enrollment target is mid-sized for trials with a published cap.
The record links to 1 condition, with Hermansky-Pudlak Syndrome (HPS) appearing as the primary indexed condition, and to 0 interventions.
NCT00001456 reports a single indexed study location in 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.
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