Last updated on March 2020

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome


Brief description of study

Hermansky-Pudlak Syndrome (HPS) is an inherited disease which 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 major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 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 purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPS-causing genes will also be conducted.<TAB>...

Detailed Study Description

Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary fibrosis (often fatal in the fourth or fifth decade), chronic granulomatous colitis and, rarely, renal involvement or cardiomyopathy. There exist 8 different genes known to cause HPS, but only HPS-2 has a basic defect that is known. HPS-2 disease results from mutations in the b3A subunit of a coat protein, adaptor complex-3, responsible for intracellular vesicle formation. One severe subtype of the disorder, HPS-1, is common in northwest Puerto Rico, and another milder subtype, HPS-3, is seen in central Puerto Rico. HPS-4 disease displays no founder population, and its severity resembles that of HPS-1. HPS-5 and HPS-6 resemble HPS-3 in severity. HPS-7 and HPS-8 are recently described and have not been fully characterized. In this protocol, we will clinically evaluate HPS patients of all ethnicities, obtain cells, plasma, and urine for future studies, perform mutation analysis for known HPS-causing genes, and search for other genes responsible for HPS. Routine admissions will last 4-5 days and occur approximately every two years.

Clinical Study Identifier: NCT00001456

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