A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

55 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-03-31

Study Completion Date

2019-10-15

Brief Summary

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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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Detailed Description

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Conditions

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Hermansky Pudlak Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Sample collection

Intervention Type OTHER

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.

Pulmonary function test

Intervention Type OTHER

Pulmonary function testing performed

Chest CT

Intervention Type OTHER

Chest CT scan to evaluate for pulmonary fibrosis

Sample collection

Intervention Type OTHER

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.

Sample collection

Intervention Type OTHER

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.

Pulmonary function test

Intervention Type OTHER

Pulmonary function testing performed

Sample collection

Intervention Type OTHER

Blood and urine sample collections

Interventions

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Pulmonary function test

Pulmonary function testing performed

Intervention Type OTHER

Chest CT

Chest CT scan to evaluate for pulmonary fibrosis

Intervention Type OTHER

Sample collection

Blood and urine sample collections

Intervention Type OTHER

Eligibility Criteria

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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