NCT02368340

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 55 (actual)
• Sponsor: Vanderbilt University · Academic / Other
• Sex: All
• Age: 12 Years – 90 Years
• Healthy volunteers: Not accepted

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

Type	Name	Description
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

Timeline

• Start date: 2015-03-01
• Primary completion: 2019-10-15
• Completion: 2019-10-15
• First posted: 2015-02-23
• Last updated: 2020-06-24

Locations

5 sites across 1 country: United States