Vanderbilt University researchers are sponsoring the first major study of a rare lung disease that disproportionately affects people from Puerto Rico and can cause pulmonary fibrosis.
Called Hermansky-Pudlak syndrome (HPS), the disease is the focus of a clinical trial that is now enrolling participants at various sites in the U.S. For information about enrolling, go here.
HPS is a hereditary disease that can cause bleeding problems, impaired vision, albinism, and in some cases, pulmonary fibrosis.
It is estimated to affect fewer than one in every 500,000 people worldwide. But the condition is much more common in certain areas, including Puerto Rico, where the statistics point to one in every 1,800 people being affected by this debilitating disease. Puerto Ricans who have HPS are believed to have descended from a single person with the disease.
Lisa Young, MD, of Vanderbilt University is the principal investigator of the trial (NCT02368340), called “A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.”
The study is being funded by the National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health (NIH).
The multi-center study aims to increase understanding of how HPS develops in patients over time. Its purpose is to identify the earliest evidence of lung disease in people who are at risk for HPS with pulmonary fibrosis (PF), and to identify disease biomarkers that can help researchers understand why HPS causes pulmonary fibrosis.
The study is expected to enroll 150 patients ages 12 and older with a confirmed diagnosis of HPS.
Loyola Medicine in Maywood, Illinois, is the only participating trial center in Illinois, according to a press release. More information about enrolling in the study at Loyola is available through Josie Corral, RN, at 708-216-5744 or email her at [email protected].
Jonathan Colon, 44, of Chicago, is the first Loyola HPS patient to enroll in the trial. Colon’s parents are from Puerto Rico. As a consequence of his HPS, Colon developed pulmonary fibrosis. He learned about his diagnosis relatively early and was able to receive a treatment that has effectively helped slow down the progression of his PF.
Doctors say Colon may eventually need a lung transplant, but because HPS affects normal blood coagulation, the surgery could be extra challenging due to the increased risk of bleeding and pose a serious risk to Colon’s life.
According to Loyola Medicine pulmonologist Dr. Daniel Dilling, people of Puerto Rican descent who have albinism should be screened for HPS to ensure they receive early treatment, like Colon.
Loyola is also the only center in Illinois to join the recently launched Rare Lung Diseases Consortium, which is leading innovative research on HPS and other rare lung diseases. The consortium’s mission is to develop new diagnostic tests and treatments, as well as provide clinical training and care to patients, physicians, and researchers about rare lung diseases.