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NCT Number: NCT02368340

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

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.

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Key information

Conditions

Hermansky Pudlak Syndrome Albinism Albinism, Oculocutaneous Amino Acid Metabolism, Inborn Errors Blood Coagulation Disorders Blood Coagulation Disorders, Inherited Blood Platelet Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hermanski-Pudlak Syndrome Hypopigmentation Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pigmentation Disorders Platelet Storage Pool Deficiency Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

12 year–90 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Loyola University Medical Center, Maywood, Illinois, United States

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

pulmonary function test

Other

Pulmonary function testing performed

Chest CT

Other

Chest CT scan to evaluate for pulmonary fibrosis

Sample collection

Other

Blood and urine sample collections

Primary outcomes

  1. Chest CT scan

    Time frame: change in CT Scan from baseline to 2.5 years

Secondary outcomes

  1. Pulmonary function test

    Time frame: change in PFTs from baseline to 2.5 years

Sponsors and collaborators

Lead sponsor

Vanderbilt University

Other

Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)
  • National Institutes of Health (NIH)
  • University of South Florida

Registry information

Important dates

Study start
2015
Primary completion
2019
Study completion
2019
First posted
Feb 23, 2015
Registry last updated
Jun 24, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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