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Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome

Study 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.

Recruitment Criteria

Healthy volunteers are participants who do not have a disease or condition, or related conditions or symptoms

Accepts Healthy Volunteers
No

An interventional clinical study is where participants are assigned to receive one or more interventions (or no intervention) so that researchers can evaluate the effects of the interventions on biomedical or health-related outcomes.


An observational clinical study is where participants identified as belonging to study groups are assessed for biomedical or health outcomes.


Searching Both is inclusive of interventional and observational studies.

Study Type
Observational
Eligible Ages 1 Year - 80 Years
Gender All
More Inclusion & Exclusion 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.

Trial Details

This trial id was obtained from ClinicalTrials.gov, a service of the U.S. National Institutes of Health, providing information on publicly and privately supported clinical studies of human participants with locations in all 50 States and in 196 countries.

Trial ID:
NCT00001456

Phase 1: Studies that emphasize safety and how the drug is metabolized and excreted in humans.

Phase 2: Studies that gather preliminary data on effectiveness (whether the drug works in people who have a certain disease or condition) and additional safety data.

Phase 3: Studies that gather more information about safety and effectiveness by studying different populations and different dosages and by using the drug in combination with other drugs.

Phase 4: Studies occurring after FDA has approved a drug for marketing, efficacy, or optimal use.

Phase

The sponsor is the organization or person who oversees the clinical study and is responsible for analyzing the study data.

Lead Sponsor
National Human Genome Research Institute (NHGRI)

The person who is responsible for the scientific and technical direction of the entire clinical study.

Principal Investigator
William A Gahl, M.D.
Principal Investigator Affiliation National Human Genome Research Institute (NHGRI)

Category of organization(s) involved as sponsor (and collaborator) supporting the trial.

Agency Class
NIH
Overall Status Recruiting
Countries United States

The disease, disorder, syndrome, illness, or injury that is being studied.

Conditions
Albinism, Intestinal Disease, Kidney Disease, Myocardial Disease, Pulmonary Fibrosis
Study Website: View Trial Website
Additional Details

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.

Contact a Trial Team

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Bethesda, Maryland

Status

Recruiting

Address

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892

Site Contact

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

prpl@cc.nih.gov

800-411-1222 #TTY8664111010

Nearest Location

Site Contact

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

prpl@cc.nih.gov

800-411-1222 #TTY8664111010

Terms of Service

The PFF does not promote or represent that any investigational new drugs mentioned are safe or effective. The content provided on clinical trials is for informational purposes only and is not a substitute for medical consultation with your healthcare provider. We do not recommend or endorse any specific study and you are advised to discuss the information shown with your healthcare provider. While we believe the information presented on this website to be accurate at the time of writing, we do not guarantee that its contents are correct, complete, or applicable to any particular individual situation. We strongly encourage individuals to seek out appropriate medical advice and treatment from their physicians. We cannot guarantee the availability of any clinical trial listed and will not be responsible if you are considered ineligible to participate in a given clinical trial. We are also not liable for any injury arising as a result of participation. The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. For a full description of terms please refer to our Terms, Conditions & Privacy.

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