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.

Study Overview

• Status: Completed
• Conditions: Hermansky Pudlak Syndrome
• Intervention / Treatment: Other: Sample collection; Other: Pulmonary function test; Other: Chest CT

• Study Type: Observational
• Enrollment (Actual): 55

Contacts and Locations

Study Locations

• United States
  • Illinois
    • Maywood, Illinois, United States, 60153
      • Loyola University Medical Center
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Brigham and Women's Hospital, Harvard
  • New York
    • New York, New York, United States, 10032
      • Columbia University Medical Center
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Children's Hospital of Philadelphia
  • Tennessee
    • Nashville, Tennessee, United States, 37232
      • Vanderbilt University

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 12 years to 90 years (ADULT, OLDER_ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Individuals with diagnosis of Hermansky-Pudlak Syndrome

Description

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 Plan

How is the study designed?

Number of groups / cohorts

4

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Chest CT scan	change in CT Scan from baseline to 2.5 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Pulmonary function test	change in PFTs from baseline to 2.5 years

Collaborators and Investigators

• Sponsor: Vanderbilt University
• Collaborators: National Heart, Lung, and Blood Institute (NHLBI); University of South Florida; National Institutes of Health (NIH)
• Investigators: Principal Investigator: Lisa R. Young, MD, Vanderbilt University

Study record dates

Study Major Dates

• Study Start (ACTUAL): March 1, 2015
• Primary Completion (ACTUAL): October 15, 2019
• Study Completion (ACTUAL): October 15, 2019

Study Registration Dates

• First Submitted: February 13, 2015
• First Submitted That Met QC Criteria: February 20, 2015
• First Posted (ESTIMATE): February 23, 2015

Study Record Updates

• Last Update Posted (ACTUAL): June 24, 2020
• Last Update Submitted That Met QC Criteria: June 22, 2020
• Last Verified: June 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Skin Diseases; Respiratory Tract Diseases; Lung Diseases; Eye Diseases; Disease; Hematologic Diseases; Blood Coagulation Disorders, Inherited; Hemorrhagic Disorders; Genetic Diseases, Inborn; Skin Diseases, Genetic; Eye Diseases, Hereditary; Blood Coagulation Disorders; Metabolism, Inborn Errors; Blood Platelet Disorders; Amino Acid Metabolism, Inborn Errors; Pigmentation Disorders; Hypopigmentation; Albinism; Albinism, Oculocutaneous; Platelet Storage Pool Deficiency; Syndrome; Pulmonary Fibrosis; Hermanski-Pudlak Syndrome
• Other Study ID Numbers: 150104; U54HL127672 (U.S. NIH Grant/Contract)