A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Study Overview
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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.

Official Title
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A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Conditions
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Hermansky Pudlak Syndrome

Intervention / Treatment
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* Other: Pulmonary function test
* Other: Chest CT
* Other: Sample collection


Participation Criteria
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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 Exclusion Criteria: Status-post lung transplantation Perceived unsuitability for participation in the study in the opinion of the investigator

Ages Eligible for Study
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Minimum Age: 12 Years
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Adults with pulmonary fibrosis<br>This group includes adults with HPS who have known pulmonary fibrosis. Subjects in this group will provide blood and urine specimens. | Other: Sample collection<br>* Blood and urine sample collections<br>|
| Adults at-risk<br>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<br>* Pulmonary function testing performed<br>Other: Chest CT<br>* Chest CT scan to evaluate for pulmonary fibrosis<br>Other: Sample collection<br>* Blood and urine sample collections<br>|
| HPS adults not at-risk<br>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<br>* Blood and urine sample collections<br>|
| Children with HPS at-risk<br>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<br>* Pulmonary function testing performed<br>Other: Sample collection<br>* Blood and urine sample collections<br>|

What is the study measuring?
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Primary Outcome Measures

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

Secondary Outcome Measures

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