Hermansky Pudlak Syndrome Clinical Trial
Official title:
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.
n/a
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Not yet recruiting |
NCT04193592 -
Efficacy and Safety of Pirfenidone Treatment in HPS-ILD
|
Phase 2 |