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Sponsored by: |
National Human Genome Research Institute (NHGRI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00001456 |
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.
Condition |
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Albinism Intestinal Disease Kidney Disease Myocardial Disease Pulmonary Fibrosis |
Study Type: | Observational |
Official Title: | Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome |
Estimated Enrollment: | 400 |
Study Start Date: | September 1995 |
Hermansky-Pudlak Syndrome 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 Beta3A 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 every two years.
Ages Eligible for Study: | 1 Year to 80 Years |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
HPS patients of any gender and ethnicity age 1-80 years are eligible to enroll in this protocol.
Patients will be diagnosed as having HPS based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy.
Some patients who have not yet had this laboratory test will be admitted to the protocol based upon the presence of albinism combined with a platelet storage pool deficiency.
EXCLUSION CRITERIA
Patient will be excluded if they cannot travel to the NIH because of their medical condition.
Infants under age one.
Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
Contact: TTY | 1-866-411-1010 |
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
Bethesda, Maryland, United States, 20892 |
Study ID Numbers: | 950193, 95-HG-0193 |
Study First Received: | November 3, 1999 |
Last Updated: | October 16, 2008 |
ClinicalTrials.gov Identifier: | NCT00001456 |
Health Authority: | United States: Federal Government |
Albinism Platelet Storage Pool Deficiency Metabolic Disease Hermansky-Pudlak Syndrome |
Fibrosis Gastrointestinal Diseases Hermansky-Pudlak syndrome Hemostatic Disorders Pulmonary Fibrosis Albinism Metabolism, Inborn Errors Hypopigmentation Hemorrhagic Disorders Urologic Diseases Respiratory Tract Diseases Hypomelanotic disorder Eye Diseases, Hereditary Kidney Diseases Skin Diseases, Genetic |
Lung Diseases, Interstitial Heart Diseases Metabolic Diseases Skin Diseases Hematologic Diseases Amino Acid Metabolism, Inborn Errors Storage pool platelet disease Blood Platelet Disorders Blood Coagulation Disorders Eye Diseases Pigmentation Disorders Intestinal Diseases Platelet Storage Pool Deficiency Cardiomyopathies Thrombocytopathy |
Blood Coagulation Disorders, Inherited Disease Pathologic Processes Syndrome Cardiovascular Diseases |