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A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02368340
Recruitment Status : Completed
First Posted : February 23, 2015
Last Update Posted : June 24, 2020
Sponsor:
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

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

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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


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




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


Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02368340


Locations
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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
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Principal Investigator: Lisa R. Young, MD Vanderbilt University
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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    Key Record Dates
Last Update Posted: June 24, 2020
Last Verified: June 2020
Additional relevant MeSH terms:
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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