Researchers from two Southern U.S. universities and a federal healthcare agency have begun a study of pulmonary fibrosis in people with the rare disease Hermansky-Pudlak syndrome (HPS).
The objective of the observational clinical trial is to learn why those with HPS develop lung fibrosis, or tissue scarring. The team from Vanderbilt University in Nashville, the University of South Florida in Tampa and the National Heart, Lung, and Blood Institute hope to identify the earliest signs of fibrosis and search for biomarkers that can predict the lung condition’s course and severity.
Researchers are recruiting about 150 HPS patients at six U.S. locations. They will include adults and children more than 12 years old, both with and without pulmonary fibrosis. The team has dubbed the trial (NCT02368340) “A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis.”
HPS is an inherited disease that leads to bleeding problems, poor vision, and albinism — complete or partial absence of skin pigmentation. Some patients also develop lung fibrosis.
While the disease strikes only one in 500,000 people worldwide, it is far more common in certain geographical areas. One is Puerto Rico, where about one in 1,800 people is affected. Researchers believe that all Puerto Ricans who have developed the disease are descendants of a single person who had it.
At one of the study sites, Loyola Medicine in Chicago, the first patient has been enrolled. Forty-four-year-old Jonathan Colon, whose parents are Puerto Rican, has already developed pulmonary fibrosis.
Colon was diagnosed early, and a lung fibrosis therapy has slowed the progression of his condition, according to a press release, But Dr. Daniel Dilling, a Loyola Medicine pulmonologist, said Colon may eventually need a lung transplant.
A transplant is riskier in HPS patients than in the general population because their blood does not clot at a normal rate, increasing the risk of excessive bleeding during surgery.
Dilling said many people of Puerto Rican descent who have albinism do not know they are at risk of developing HPS, and should be screened for it.
The locations of the six study sites and how people with HPS can participate are at this link.