Clinical Trial: A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Brief 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.

Detailed Summary:
Sponsor: Vanderbilt University

Current Primary Outcome: Chest CT scan [ Time Frame: change in CT Scan from baseline to 2.5 years ]

Original Primary Outcome: Chest CT scan [ Time Frame: baseline and after 2-3 years ]

Current Secondary Outcome: Pulmonary function test [ Time Frame: change in PFTs from baseline to 2.5 years ]

Original Secondary Outcome: Pulmonary function test [ Time Frame: baseline and after 2-3 years ]

Information By: Vanderbilt University Medical Center

Dates:
Date Received: February 13, 2015
Date Started: March 2015
Date Completion: August 2019
Last Updated: January 23, 2017
Last Verified: January 2017