A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

• ClinicalTrials.gov Identifier: NCT02368340
• Recruitment Status: Completed
• First Posted: February 23, 2015
• Last Update Posted: June 24, 2020
• Sponsor: Vanderbilt University
• Collaborators: University of South Florida; National Institutes of Health (NIH); National Heart, Lung, and Blood Institute (NHLBI)
• Information provided by (Responsible Party): Lisa Young, Vanderbilt University

Study Description

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.

Condition or disease	Intervention/treatment
Hermansky Pudlak Syndrome	Other: Pulmonary function test; Other: Chest CT; Other: Sample collection

Study Design

• Study Type: Observational
• Actual Enrollment: 55 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
• Actual Study Start Date: March 2015
• Actual Primary Completion Date: October 15, 2019
• Actual Study Completion Date: October 15, 2019

Groups and Cohorts

Group/Cohort	Intervention/treatment
Adults with pulmonary fibrosis; This group includes adults with HPS who have known pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.	Other: Sample collection; Blood and urine sample collections
Adults at-risk; 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.	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
HPS adults not at-risk; This group includes adults with HPS subtypes considered not at-risk for pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.	Other: Sample collection; Blood and urine sample collections
Children with HPS at-risk; 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.	Other: Pulmonary function test; Pulmonary function testing performed; Other: Sample collection; Blood and urine sample collections

Outcome Measures

Primary Outcome Measures :

1. Chest CT scan [ Time Frame: change in CT Scan from baseline to 2.5 years ]

Secondary Outcome Measures :

1. Pulmonary function test [ Time Frame: change in PFTs from baseline to 2.5 years ]

Biospecimen Retention:   Samples With DNA

blood, urine, lymphocytes

Eligibility Criteria

• Ages Eligible for Study: 12 Years to 90 Years (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Individuals with diagnosis of Hermansky-Pudlak Syndrome

Criteria

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

Contacts and Locations

Locations

United States, Illinois

Loyola University Medical Center

Maywood, Illinois, United States, 60153

United States, Massachusetts

Brigham and Women's Hospital, Harvard

Boston, Massachusetts, United States, 02115

United States, New York

Columbia University Medical Center

New York, New York, United States, 10032

United States, Pennsylvania

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States, 19104

United States, Tennessee

Vanderbilt University

Nashville, Tennessee, United States, 37232

Sponsors and Collaborators

Vanderbilt University

University of South Florida

National Institutes of Health (NIH)

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

• Principal Investigator: Lisa R. Young, MD; Vanderbilt University

More Information

• Responsible Party: Lisa Young, Associate Professor, Vanderbilt University
• ClinicalTrials.gov Identifier: NCT02368340
• Other Study ID Numbers: 150104; U54HL127672 ( U.S. NIH Grant/Contract )
• First Posted: February 23, 2015
• Last Update Posted: June 24, 2020
• Last Verified: June 2020

Additional relevant MeSH terms:

Pulmonary Fibrosis; Hermanski-Pudlak Syndrome; Syndrome; Disease; Pathologic Processes; Lung Diseases; Respiratory Tract Diseases; Albinism, Oculocutaneous; Albinism; Eye Diseases, Hereditary; Eye Diseases; Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Platelet Storage Pool Deficiency; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Skin Diseases, Genetic; Hypopigmentation; Pigmentation Disorders; Skin Diseases; Metabolic Diseases