Vanderbilt Clinical Trials

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Purpose

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.

Condition

Hermansky Pudlak Syndrome

Eligibility

Eligible Ages: Between 12 Years and 90 Years
Eligible Genders: All
Accepts Healthy Volunteers: No

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 Design

Phase
Study Type: Observational
Observational Model: Cohort
Time Perspective: Prospective

Arm Groups

Arm	Description	Assigned Intervention
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: Pulmonary function test Pulmonary function testing performed Other: Chest CT Chest CT scan to evaluate for pulmonary fibrosis Other: Sample collection 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.	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: Pulmonary function test Pulmonary function testing performed Other: Sample collection Blood and urine sample collections

More Details

Status: Completed
Sponsor: Vanderbilt University

Study Contact

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.