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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 : July 18, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Tracking Information
First Submitted Date November 3, 1999
First Posted Date November 4, 1999
Last Update Posted Date July 18, 2019
Actual Study Start Date September 2, 1995
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: January 19, 2019)
Natural History [ Time Frame: Ongoing ]
The natural history of Hermansky-Pudlak Syndrome (HPS)
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00001456 on ClinicalTrials.gov Archive Site
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
 
Descriptive Information
Brief Title Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Official Title Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Brief Summary

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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen 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)
Intervention Not Provided
Study Groups/Cohorts HPS
HPS patients of any gender and ethnicity age 1-80 years
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: September 21, 2007)
400
Original Enrollment
 (submitted: June 23, 2005)
200
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility 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.

Sex/Gender
Sexes Eligible for Study: All
Ages 1 Year to 80 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts
Contact: Bernadette R Gochuico, M.D. (301) 451-7979 gochuicb@mail.nih.gov
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00001456
Other Study ID Numbers 950193
95-HG-0193
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)
Collaborators Not Provided
Investigators
Principal Investigator: Bernadette R Gochuico, M.D. National Human Genome Research Institute (NHGRI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date March 8, 2019