A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Hermansky Pudlak Syndrome Clinical Trial

Official title:

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02368340
• Other study ID #: 150104
• Secondary ID: U54HL127672
• Status: Completed
• Start date: March 2015
• Est. completion date: October 15, 2019

Study information

• Verified date: June 2020
• Source: Vanderbilt University Medical Center
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 55
• Est. completion date: October 15, 2019
• Est. primary completion date: October 15, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 12 Years to 90 Years

Eligibility

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

Related Conditions & MeSH terms

• Hermanski-Pudlak Syndrome
• Hermansky Pudlak Syndrome
• Pulmonary Fibrosis
• Syndrome

Intervention

Other:
• Pulmonary function test
Pulmonary function testing performed
• Chest CT
Chest CT scan to evaluate for pulmonary fibrosis
• Sample collection
Blood and urine sample collections

Locations

Country	Name	City	State
United States	Brigham and Women's Hospital, Harvard	Boston	Massachusetts
United States	Loyola University Medical Center	Maywood	Illinois
United States	Vanderbilt University	Nashville	Tennessee
United States	Columbia University Medical Center	New York	New York
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania

Sponsors (4)

Lead Sponsor	Collaborator
Vanderbilt University	National Heart, Lung, and Blood Institute (NHLBI), National Institutes of Health (NIH), University of South Florida

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Chest CT scan		change in CT Scan from baseline to 2.5 years
Secondary	Pulmonary function test		change in PFTs from baseline to 2.5 years