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A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

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Vanderbilt University

Status

Completed

Conditions

Hermansky Pudlak Syndrome

Treatments

Other: Sample collection
Other: Pulmonary function test
Other: Chest CT

Study type

Observational

Funder types

Other
NIH

Identifiers

NCT02368340
U54HL127672 (U.S. NIH Grant/Contract)
150104

Details and patient eligibility

About

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.

Enrollment

55 patients

Sex

All

Ages

12 to 90 years old

Volunteers

No Healthy Volunteers

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

Trial design

55 participants in 4 patient groups

Adults with pulmonary fibrosis
Description:
This group includes adults with HPS who have known pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.
Treatment:
Other: Sample collection
Adults at-risk
Description:
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.
Treatment:
Other: Chest CT
Other: Pulmonary function test
Other: Sample collection
HPS adults not at-risk
Description:
This group includes adults with HPS subtypes considered not at-risk for pulmonary fibrosis. Subjects in this group will provide blood and urine specimens.
Treatment:
Other: Sample collection
Children with HPS at-risk
Description:
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.
Treatment:
Other: Pulmonary function test
Other: Sample collection

Trial contacts and locations

5

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Data sourced from clinicaltrials.gov

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