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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 : August 30, 2021
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

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>


Condition or disease
Hermansky-Pudlak Syndrome (HPS)

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 10 different genes known to cause HPS, but only HPS-2 and HPS-10 have a basic defect whose mechanism is known, i.e., defective subunits of a coat protein, adaptor complex-3, responsible for intracellular vesicle formation. HPS-1 is a severe genetic type common in northwest Puerto Rico, and HPS-3 is a milder one seen in central Puerto Rico. HPS-4 resembles HPS-1 in severity; HPS-5 and HPS-6 resemble HPS-3 in severity. HPS-7, HPS-8, and HPS-9 are extremely rare and have not been fully characterized. The purpose of this protocol is to evaluate individuals with HPS, perform mutation analysis for known HPS-causing genes, search for variants in other genes responsible for HPS, and obtain specimens to analyze basic mechanisms of HPS.

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Study Type : Observational
Estimated Enrollment : 600 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Actual Study Start Date : November 6, 1995


Group/Cohort
HPS
HPS patients of any gender and ethnicity age 1-80 years
HPS Symptom Questionnaire
Includes both patients and family members or caregivers.



Primary Outcome Measures :
  1. Natural History [ Time Frame: Ongoing ]
    The natural history of Hermansky-Pudlak Syndrome (HPS)



Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
HPS patients of any gender and ethnicity age 1-80 years
Criteria
  • INCLUSION CRITERIA:

Subjects with HPS age 1-80 years are eligible to enroll in this protocol.

The diagnosis of HPS is based upon a paucity or deficiency of platelet dense bodies on whole mount electron microscopy or the identification of pathogenic variants in HPS genes by genetic testing. Some subjects who have not been diagnosed with HPS may be admitted to the protocol based upon the presence of albinism and a platelet storage pool deficiency.

Most female subjects who participate in the Obstetrics/Gynecology Questionnaire will be enrolled in the protocol.

Subjects with HPS or family members who are their caregivers participating in the HPS Symptom Questionnaire will be at least 18 years of age. These subjects will enroll in the protocol and will provide written consent.

EXCLUSION CRITERIA:

Infants under age one year are excluded because there is generally no urgency for a very early diagnosis and care is more readily provided to older infants at the Clinical Center.

Pregnant women and adults who are unable to provide consent are excluded.


Information from the National Library of Medicine

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


Contacts
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Contact: Bernadette R Gochuico, M.D. (301) 451-7979 gochuicb@mail.nih.gov

Locations
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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    prpl@cc.nih.gov   
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)
Investigators
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Principal Investigator: Bernadette R Gochuico, M.D. National Human Genome Research Institute (NHGRI)
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: National Human Genome Research Institute (NHGRI)
ClinicalTrials.gov Identifier: NCT00001456    
Other Study ID Numbers: 950193
95-HG-0193
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: August 30, 2021
Last Verified: May 25, 2021
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) ):
Albinism
Platelet Storage Pool Deficiency
Metabolic Disease
Pulmonary Fibrosis
Inflammatory Bowel Disease
Additional relevant MeSH terms:
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Hermanski-Pudlak Syndrome
Syndrome
Disease
Pathologic Processes
Albinism, Oculocutaneous
Albinism
Eye Diseases, Hereditary
Eye Diseases
Blood Coagulation Disorders, Inherited
Blood Coagulation Disorders
Hematologic Diseases
Platelet Storage Pool Deficiency
Blood Platelet Disorders
Hemorrhagic Disorders
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Skin Diseases, Genetic
Hypopigmentation
Pigmentation Disorders
Skin Diseases
Metabolic Diseases