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Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

NCT00001456 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 600

Last updated 2026-05-22

No results posted yet for this 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

  • Hermansky-Pudlak Syndrome (HPS)

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Wendy J Introne, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Month
Max Age
115 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1995-11-06

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001456 on ClinicalTrials.gov