Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

This study is currently recruiting participants.
Verified June 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001456
First received: November 3, 1999
Last updated: March 14, 2014
Last verified: June 2013
  Purpose

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>


Condition
Albinism
Intestinal Disease
Kidney Disease
Myocardial Disease
Pulmonary Fibrosis

Study Type: Observational
Official Title: Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 400
Study Start Date: September 1995
Detailed 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.

  Eligibility

Ages Eligible for Study:   1 Year to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA

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.

  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00001456

Contacts
Contact: William A Gahl, M.D. (301) 402-2739 bgahl@helix.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00001456     History of Changes
Other Study ID Numbers: 950193, 95-HG-0193
Study First Received: November 3, 1999
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Albinism
Platelet Storage Pool Deficiency
Metabolic Disease
Hermansky-Pudlak Syndrome

Additional relevant MeSH terms:
Hermanski-Pudlak Syndrome
Albinism
Fibrosis
Intestinal Diseases
Kidney Diseases
Pulmonary Fibrosis
Cardiomyopathies
Eye Diseases, Hereditary
Eye Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Hypopigmentation
Pigmentation Disorders
Skin Diseases
Metabolic Diseases
Pathologic Processes
Gastrointestinal Diseases
Digestive System Diseases
Urologic Diseases
Lung Diseases
Respiratory Tract Diseases
Albinism, Oculocutaneous
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Platelet Storage Pool Deficiency
Blood Platelet Disorders
Hemorrhagic Disorders

ClinicalTrials.gov processed this record on April 22, 2014