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 : February 18, 2020
|First Submitted Date||November 3, 1999|
|First Posted Date||November 4, 1999|
|Last Update Posted Date||February 18, 2020|
|Actual Study Start Date||September 2, 1995|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures
||Natural History [ Time Frame: Ongoing ]
The natural history of Hermansky-Pudlak Syndrome (HPS)
|Original Primary Outcome Measures||Not Provided|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Pre-specified Outcome Measures||Not Provided|
|Original Other Pre-specified Outcome Measures||Not Provided|
|Brief Title||Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome|
|Official Title||Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome|
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 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.|
|Study Design||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Non-Probability Sample|
|Study Population||HPS patients of any gender and ethnicity age 1-80 years@@@@@@|
|Condition||Hermansky-Pudlak Syndrome (HPS)|
HPS patients of any gender and ethnicity age 1-80 years
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Study Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
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.
Patients with HPS or family members who are their caregivers participating in the HPS Symptom Questionnaire will be at least 18 years of age.
Patient will be excluded if they cannot travel to the NIH because of their medical condition.
Infants under age one.
|Ages||1 Year to 80 Years (Child, Adult, Older Adult)|
|Accepts Healthy Volunteers||No|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||950193
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )|
|Study Sponsor||National Human Genome Research Institute (NHGRI)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||December 12, 2019|