A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

Status:	Recruiting
Conditions:	Other Indications, Pulmonary
Therapuetic Areas:	Pulmonary / Respiratory Diseases, Other
Healthy:	No
Age Range:	12 - 90
Updated:	1/25/2017
Start Date:	March 2015
End Date:	August 2019
Contact:	Lisa R. Young, MD
Email:	Lisa.Young@vanderbilt.edu
Phone:	615-343-7617

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

We found this trial at

sites

Cincinnati Children's Hospital Medical Center

3333 Burnet Avenue # Mlc3008
Cincinnati, Ohio 45229

1-513-636-4200