NCT02368340
A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
COMPLETED
NCT02368340
OBSERVATIONAL
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.
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
Hermansky Pudlak Syndrome
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- Type: OTHER
- Name: Pulmonary function test
- Description: Pulmonary function testing performed
- Arm Group Labels: Adults at-risk, Children with HPS at-risk
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- Type: OTHER
- Name: Chest CT
- Description: Chest CT scan to evaluate for pulmonary fibrosis
- Arm Group Labels: Adults at-risk
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- Type: OTHER
- Name: Sample collection
- Description: Blood and urine sample collections
- Arm Group Labels: Adults at-risk, Adults with pulmonary fibrosis, Children with HPS at-risk, HPS adults not at-risk
- Vanderbilt University