A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Completed

• Conditions: Hermansky Pudlak Syndrome
• Interventions: Other: Pulmonary function test; Other: Chest CT; Other: Sample collection

• Registration Number: NCT02368340
• Lead Sponsor: Vanderbilt University

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 Description

Not available

Study Timeline

• Study First Submitted: 2015-02-13
• Study First Submitted QC: 2015-02-20
• Study First Posted: 2015-02-23
• Study Start: 2015-03
• Primary Completion: 2019-10-15
• Study Completion: 2019-10-15
• Status Verified: 2020-06
• Last Update Submitted: 2020-06-22
• Last Update Posted: 2020-06-24

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 55

Inclusion Criteria

• 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

Exclusion Criteria

• Status-post lung transplantation
• Perceived unsuitability for participation in the study in the opinion of the investigator

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Adults at-risk	Chest CT	This group includes adults with HPS with subtypes at-risk for pulmonary fibrosis, but who do not have known pulmonary fibrosis. Subjects in this group will undergo chest CT and pulmonary function testing, and provide blood and urine specimens.
Adults at-risk	Sample collection	This group includes adults with HPS with subtypes at-risk for pulmonary fibrosis, but who do not have known pulmonary fibrosis. Subjects in this group will undergo chest CT and pulmonary function testing, and provide blood and urine specimens.
HPS adults not at-risk	Sample collection	This group includes adults with HPS subtypes considered not at-risk for pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.
Adults with pulmonary fibrosis	Sample collection	This group includes adults with HPS who have known pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.
Children with HPS at-risk	Pulmonary function test	This group includes children with HPS subtypes at-risk for pulmonary fibrosis. Subjects in this group will undergo pulmonary function testing, and provide blood and urine specimens.
Adults at-risk	Pulmonary function test	This group includes adults with HPS with subtypes at-risk for pulmonary fibrosis, but who do not have known pulmonary fibrosis. Subjects in this group will undergo chest CT and pulmonary function testing, and provide blood and urine specimens.
Children with HPS at-risk	Sample collection	This group includes children with HPS subtypes at-risk for pulmonary fibrosis. Subjects in this group will undergo pulmonary function testing, and provide blood and urine specimens.

Primary Outcome Measures

Name	Time	Method
Chest CT scan	change in CT Scan from baseline to 2.5 years

Secondary Outcome Measures

Name	Time	Method
Pulmonary function test	change in PFTs from baseline to 2.5 years

Trial Locations

Locations (5)

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

Loyola University Medical Center; 🇺🇸 Maywood, Illinois, United States

Vanderbilt University; 🇺🇸 Nashville, Tennessee, United States