Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Status:
Completed
Trial end date:
2016-05-09
Target enrollment:
Participant gender:
Summary
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased
pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality
(platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal
accumulation of ceroid lipofuscin).
The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The most
serious complication of the disease is pulmonary fibrosis and typically causes death in
patients 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical
research studies on the disease have been conducted. Neither the full extent of the disease
nor the basic cause of the disease is known. There is no known treatment for HPS.
The drug pirfenidone blocks the biochemical process of inflammation and has been reported to
slow or reverse pulmonary fibrosis in animal systems.
In this study researchers will select up to 40 HPS patients diagnosed with pulmonary
fibrosis. The patients will be randomly divided into 2 groups. The patients will not know if
they are taking pirfenidone or a placebo "sugar pill".
1. Group one will be patients who will receive pirfenidone.
2. Group two will be patients who will receive a placebo "sugar pill"
The major outcome measurement of the therapy will be a change in the lung function (forced
vital capacity). The study will be stopped if one therapy proves to be more effective than
the other.