Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
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|ClinicalTrials.gov Identifier: NCT00001456|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : March 29, 2018
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 or disease|
|Albinism Intestinal Disease Kidney Disease Myocardial Disease Pulmonary Fibrosis|
|Study Type :||Observational|
|Estimated Enrollment :||400 participants|
|Official Title:||Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome|
|Study Start Date :||September 22, 1995|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001456
|Contact: William A Gahl, M.D.||(301) email@example.com|
|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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 firstname.lastname@example.org|
|Principal Investigator:||William A Gahl, M.D.||National Human Genome Research Institute (NHGRI)|