A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
Completed
Conditions studied: Hermansky Pudlak Syndrome
In brief
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.
Key facts
- Study ID
- NCT02368340
- Run by
- Vanderbilt University
- People needed
- 55
- Starts
- 2015-03-01
- Expected to finish
- 2019-10-15
- Last updated by the study team
- 2020-06-24
Who can join
Age: 12 and older, up to 90. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Individuals ages 12-90 years with confirmed diagnosis of HPS as defined by verification of reduced or absent platelet dense granules by electron microscopy and/or genetic diagnosis
- Ability to provide informed consent, or consent of parent/guardian and assent for minors
You may not qualify if…
- Status-post lung transplantation
- Perceived unsuitability for participation in the study in the opinion of the investigator
Where it is running
- Loyola University Medical Center — Maywood, Illinois, United States
- Brigham and Women's Hospital, Harvard — Boston, Massachusetts, United States
- Columbia University Medical Center — New York, New York, United States
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
- Vanderbilt University — Nashville, Tennessee, United States
Full record on ClinicalTrials.gov
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