Nctid:
NCT00001456
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-09-05"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D000022861", "term"=>"Hermanski-Pudlak Syndrome"}, {"id"=>"D000013577", "term"=>"Syndrome"}], "ancestors"=>[{"id"=>"D000004194", "term"=>"Disease"}, {"id"=>"D000010335", "term"=>"Pathologic Processes"}, {"id"=>"D000016115", "term"=>"Albinism, Oculocutaneous"}, {"id"=>"D000000417", "term"=>"Albinism"}, {"id"=>"D000015785", "term"=>"Eye Diseases, Hereditary"}, {"id"=>"D000005128", "term"=>"Eye Diseases"}, {"id"=>"D000025861", "term"=>"Blood Coagulation Disorders, Inherited"}, {"id"=>"D000001778", "term"=>"Blood Coagulation Disorders"}, {"id"=>"D000006402", "term"=>"Hematologic Diseases"}, {"id"=>"D000010981", "term"=>"Platelet Storage Pool Deficiency"}, {"id"=>"D000001791", "term"=>"Blood Platelet Disorders"}, {"id"=>"D000006474", "term"=>"Hemorrhagic Disorders"}, {"id"=>"D000030342", "term"=>"Genetic Diseases, Inborn"}, {"id"=>"D000000592", "term"=>"Amino Acid Metabolism, Inborn Errors"}, {"id"=>"D000008661", "term"=>"Metabolism, Inborn Errors"}, {"id"=>"D000012873", "term"=>"Skin Diseases, Genetic"}, {"id"=>"D000017496", "term"=>"Hypopigmentation"}, {"id"=>"D000010859", "term"=>"Pigmentation Disorders"}, {"id"=>"D000012871", "term"=>"Skin Diseases"}, {"id"=>"D000008659", "term"=>"Metabolic Diseases"}], "browseLeaves"=>[{"id"=>"M16355", "name"=>"Syndrome", "asFound"=>"Syndrome", "relevance"=>"HIGH"}, {"id"=>"M10444", "name"=>"Intestinal Diseases", "relevance"=>"LOW"}, {"id"=>"M17917", "name"=>"Inflammatory Bowel Diseases", "relevance"=>"LOW"}, {"id"=>"M11639", "name"=>"Metabolic Diseases", "relevance"=>"LOW"}, {"id"=>"M8485", "name"=>"Fibrosis", "relevance"=>"LOW"}, {"id"=>"M14512", "name"=>"Pulmonary Fibrosis", "relevance"=>"LOW"}, {"id"=>"M3764", "name"=>"Albinism", "relevance"=>"LOW"}, {"id"=>"M13871", "name"=>"Platelet Storage Pool Deficiency", "relevance"=>"LOW"}, {"id"=>"M22845", "name"=>"Hermanski-Pudlak Syndrome", "asFound"=>"Hermansky-Pudlak Syndrome", "relevance"=>"HIGH"}, {"id"=>"M18593", "name"=>"Albinism, Oculocutaneous", "relevance"=>"LOW"}, {"id"=>"M8271", "name"=>"Eye Diseases", "relevance"=>"LOW"}, {"id"=>"M18339", "name"=>"Eye Diseases, Hereditary", "relevance"=>"LOW"}, {"id"=>"M21977", "name"=>"Hemostatic Disorders", "relevance"=>"LOW"}, {"id"=>"M5059", "name"=>"Blood Coagulation Disorders", "relevance"=>"LOW"}, {"id"=>"M23095", "name"=>"Blood Coagulation Disorders, Inherited", "relevance"=>"LOW"}, {"id"=>"M9490", "name"=>"Hematologic Diseases", "relevance"=>"LOW"}, {"id"=>"M5072", "name"=>"Blood Platelet Disorders", "relevance"=>"LOW"}, {"id"=>"M9560", "name"=>"Hemorrhagic Disorders", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"M11641", "name"=>"Metabolism, Inborn Errors", "relevance"=>"LOW"}, {"id"=>"M3932", "name"=>"Amino Acid Metabolism, Inborn Errors", "relevance"=>"LOW"}, {"id"=>"M15674", "name"=>"Skin Diseases", "relevance"=>"LOW"}, {"id"=>"M15676", "name"=>"Skin Diseases, Genetic", "relevance"=>"LOW"}, {"id"=>"M19761", "name"=>"Hypopigmentation", "relevance"=>"LOW"}, {"id"=>"M13754", "name"=>"Pigmentation Disorders", "relevance"=>"LOW"}, {"id"=>"T263", "name"=>"Albinism", "relevance"=>"LOW"}, {"id"=>"T4589", "name"=>"Platelet Storage Pool Deficiency", "relevance"=>"LOW"}, {"id"=>"T2785", "name"=>"Hermansky-Pudlak Syndrome", "asFound"=>"Hermansky-Pudlak Syndrome", "relevance"=>"HIGH"}, {"id"=>"T4204", "name"=>"Oculocutaneous Albinism", "relevance"=>"LOW"}, {"id"=>"T3036", "name"=>"Inborn Amino Acid Metabolism Disorder", "relevance"=>"LOW"}, {"id"=>"T2945", "name"=>"Hypomelanotic Disorder", "relevance"=>"LOW"}], "browseBranches"=>[{"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Digestive System Diseases", "abbrev"=>"BC06"}, {"name"=>"Nutritional and Metabolic Diseases", "abbrev"=>"BC18"}, {"name"=>"Respiratory Tract (Lung and Bronchial) Diseases", "abbrev"=>"BC08"}, {"name"=>"Eye Diseases", "abbrev"=>"BC11"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Skin and Connective Tissue Diseases", "abbrev"=>"BC17"}, {"name"=>"Blood and Lymph Conditions", "abbrev"=>"BC15"}, {"name"=>"Heart and Blood Diseases", "abbrev"=>"BC14"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "designInfo"=>{"timePerspective"=>"PROSPECTIVE", "observationalModel"=>"COHORT"}, "enrollmentInfo"=>{"type"=>"ESTIMATED", "count"=>600}}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"1995-11-06", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-08-07", "lastUpdateSubmitDate"=>"2024-08-23", "studyFirstSubmitDate"=>"1999-11-03", "studyFirstSubmitQcDate"=>"1999-11-03", "lastUpdatePostDateStruct"=>{"date"=>"2024-08-26", "type"=>"ACTUAL"}, "studyFirstPostDateStruct"=>{"date"=>"1999-11-04", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"primaryOutcomes"=>[{"measure"=>"Natural History", "timeFrame"=>"Ongoing", "description"=>"The natural history of Hermansky-Pudlak Syndrome (HPS)"}]}, "oversightModule"=>{"isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"keywords"=>["Albinism", "Platelet Storage Pool Deficiency", "Metabolic Disease", "Pulmonary Fibrosis", "Inflammatory Bowel Disease", "Natural History"], "conditions"=>["Hermansky-Pudlak Syndrome (HPS)"]}, "referencesModule"=>{"references"=>[{"pmid"=>"30369044", "type"=>"DERIVED", "citation"=>"Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4."}, {"pmid"=>"29445374", "type"=>"DERIVED", "citation"=>"El-Chemaly S, Cheung F, Kotliarov Y, O'Brien KJ, Gahl WA, Chen J, Perl SY, Biancotto A, Gochuico BR. The Immunome in Two Inherited Forms of Pulmonary Fibrosis. Front Immunol. 2018 Jan 31;9:76. doi: 10.3389/fimmu.2018.00076. eCollection 2018."}], "seeAlsoLinks"=>[{"url"=>"https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_1995-HG-0193.html", "label"=>"NIH Clinical Center Detailed Web Page"}]}, "descriptionModule"=>{"briefSummary"=>"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).\n\nThe 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.\n\nThe 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\\>", "detailedDescription"=>"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."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "maximumAge"=>"115 years", "minimumAge"=>"1 month", "samplingMethod"=>"NON_PROBABILITY_SAMPLE", "studyPopulation"=>"HPS patients of any gender and ethnicity age 1-80 years", "healthyVolunteers"=>false, "eligibilityCriteria"=>"* INCLUSION CRITERIA:\n\nSubjects with HPS age 1-80 years are eligible to enroll in this protocol.\n\nThe 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.\n\nMost female subjects who participate in the Obstetrics/Gynecology Questionnaire will be enrolled in the protocol.\n\nSubjects 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.\n\nEXCLUSION CRITERIA:\n\nInfants 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.\n\nPregnant women and adults who are unable to provide consent are excluded."}, "identificationModule"=>{"nctId"=>"NCT00001456", "briefTitle"=>"Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome", "organization"=>{"class"=>"NIH", "fullName"=>"National Institutes of Health Clinical Center (CC)"}, "officialTitle"=>"Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome", "orgStudyIdInfo"=>{"id"=>"950193"}, "secondaryIdInfos"=>[{"id"=>"95-HG-0193"}]}, "armsInterventionsModule"=>{"armGroups"=>[{"label"=>"HPS", "description"=>"HPS patients of any gender and ethnicity age 1-80 years"}, {"label"=>"HPS Symptom Questionnaire", "description"=>"Includes both patients and family members or caregivers."}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"20892", "city"=>"Bethesda", "state"=>"Maryland", "status"=>"RECRUITING", "country"=>"United States", "facility"=>"National Institutes of Health Clinical Center", "geoPoint"=>{"lat"=>38.98067, "lon"=>-77.10026}}], "centralContacts"=>[{"name"=>"Wendy J Introne, M.D.", "role"=>"CONTACT", "email"=>"wi2p@nih.gov", "phone"=>"(301) 451-8879"}], "overallOfficials"=>[{"name"=>"Wendy J Introne, M.D.", "role"=>"PRINCIPAL_INVESTIGATOR", "affiliation"=>"National Human Genome Research Institute (NHGRI)"}]}, "ipdSharingStatementModule"=>{"ipdSharing"=>"UNDECIDED", "description"=>".pending"}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"National Human Genome Research Institute (NHGRI)", "class"=>"NIH"}, "responsibleParty"=>{"type"=>"SPONSOR"}}}}
