A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02368340

Enrollment

Registered

2015-02-23

Start date

2015-03-31

Completion date

2019-10-15

Last updated

2020-06-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hermansky Pudlak Syndrome

Brief summary

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.

Interventions

OTHERPulmonary function test

Pulmonary function testing performed

OTHERChest CT

Chest CT scan to evaluate for pulmonary fibrosis

OTHERSample collection

Blood and urine sample collections

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

12 Years to 90 Years

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

Design outcomes

Primary

Measure	Time frame
Chest CT scan	change in CT Scan from baseline to 2.5 years

Secondary

Measure	Time frame
Pulmonary function test	change in PFTs from baseline to 2.5 years

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026