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A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

NCT02368340 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 55

Last updated 2020-06-24

No results posted yet for this study

Summary

Hermansky-Pudlak Syndrome (HPS) is a rare genetic disease that is associated with oculocutaneous albinism, bleeding, granulomatous colitis, and pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. Pulmonary fibrosis causes shortness of breath and progressive decline in lung function. In HPS patients with at-risk subtypes, almost all adults eventually develop fatal pulmonary fibrosis unless they undergo lung transplantation.

The purpose of this study is to identify the earliest measurable pulmonary disease activity in individuals at-risk for HPS pulmonary fibrosis. The study also aims to develop biomarkers that will aid in understanding of the causes of HPS pulmonary fibrosis and facilitate more rapid conduct of therapeutic trials in HPS patients with mild pulmonary disease in the future.

Conditions

  • Hermansky Pudlak Syndrome

Interventions

OTHER

Pulmonary function test

Pulmonary function testing performed

OTHER

Chest CT

Chest CT scan to evaluate for pulmonary fibrosis

OTHER

Sample collection

Blood and urine sample collections

Sponsors & Collaborators

  • University of South Florida

    collaborator OTHER

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Heart, Lung, and Blood Institute (NHLBI)

    collaborator NIH

  • Vanderbilt University

    lead OTHER

Principal Investigators

  • Lisa R. Young, MD · Vanderbilt University

Eligibility

Min Age
12 Years
Max Age
90 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-03-31
Primary Completion
2019-10-15
Completion
2019-10-15

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 NCT02368340 on ClinicalTrials.gov