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 : May 26, 2023
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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)|
|Study Type :||Observational|
|Estimated Enrollment :||600 participants|
|Official Title:||Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome|
|Actual Study Start Date :||November 6, 1995|
HPS patients of any gender and ethnicity age 1-80 years
HPS Symptom Questionnaire
Includes both patients and family members or caregivers.
- Natural History [ Time Frame: Ongoing ]The natural history of Hermansky-Pudlak Syndrome (HPS)
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|Ages Eligible for Study:||1 Month and older (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
|Sampling Method:||Non-Probability Sample|
- 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.
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.
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: Wendy J Introne, M.D.||(301) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Wendy J Introne, M.D.||National Human Genome Research Institute (NHGRI)|
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
|Responsible Party:||National Human Genome Research Institute (NHGRI)|
|Other Study ID Numbers:||
|First Posted:||November 4, 1999 Key Record Dates|
|Last Update Posted:||May 26, 2023|
|Last Verified:||January 31, 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||Undecided|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
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