Oyster Bay, NY – A study location for an observational study of Hermansky-Pudlak Syndrome has opened at Loyola University in the Chicago area. Hermansky-Pudlak Syndrome, or HPS, is a type of albinism that involves other health-related issues beyond low vision and pigmentation such as a bleeding disorder, and in some gene types, bowel and lung issues. The lung disease of HPS is called Pulmonary Fibrosis and causes a scarring of the lungs that, without a lung transplant, is ultimately fatal. HPS occurs around the world, but is most common in people who trace their family roots to Puerto Rico.

This observational study will help researchers identify the earliest measurable pulmonary disease activity in people affected by HPS. It also hopes to identify biomarkers that will aid in the understanding of the cause of pulmonary fibrosis in those with HPS types 1, 2 and 4. This could help facilitate more rapid conduct of therapeutic trials in HPS for patients with early lung disease in the future.

The study is part of the Rare Lung Disease Consortium and is co-sponsored by Vanderbilt University, the University of Florida, the National Institutes of Health (NIH) and the National Heart, Lung and Blood Institute (NHLBI).

Eligible people are those with HPS, ages 12 to 90, with any HPS gene type. The observational tests could include a blood draw, urine samples, breathing tests and a CT scan.

To learn more about the study, or how you might participate, contact the HPS Network, (516) 922-4022 or e-mail: info@hpsnetwork.org.

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Phone: 1 (800) 789-9HPS
Email: info@hpsnetwork.org

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