Ignite Creation Date:
2025-12-25 @ 3:02 AM
Ignite Modification Date:
2025-12-26 @ 1:42 AM
Study NCT ID:
NCT00230633
Status:
ACTIVE_NOT_RECRUITING
Last Update Posted:
2023-09-28
First Post:
2005-09-29
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Studies of White Blood Cells Derived From HHT Patients
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D013683', 'term': 'Telangiectasia, Hereditary Hemorrhagic'}, {'id': 'D013684', 'term': 'Telangiectasis'}], 'ancestors': [{'id': 'D020141', 'term': 'Hemostatic Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D006474', 'term': 'Hemorrhagic Disorders'}, {'id': 'D006402', 'term': 'Hematologic Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}, {'id': 'D054079', 'term': 'Vascular Malformations'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 200}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2002-04', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-09', 'completionDateStruct': {'date': '2026-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-09-25', 'studyFirstSubmitDate': '2005-09-29', 'studyFirstSubmitQcDate': '2005-09-29', 'lastUpdatePostDateStruct': {'date': '2023-09-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2005-10-03', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2026-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Proteins and cellular markers related to coagulation', 'timeFrame': 'on average completing each biomarker study in 1-5 years', 'description': 'Not specified at outset. Blood samples will be collected over the recruitment period, usually on a single day. Analyses of biomarkers relate to the SAME DAY, within 24hs, though will be evaluated over subsequent months, on average completing in 1-5 years.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Telangiectasia'], 'conditions': ['Telangiectasia, Hereditary Hemorrhagic']}, 'referencesModule': {'references': [{'pmid': '32303606', 'type': 'BACKGROUND', 'citation': 'Clarke JM, Alikian M, Xiao S, Kasperaviciute D, Thomas E, Turbin I, Olupona K, Cifra E, Curetean E, Ferguson T, Redhead J; Genomics England Research Consortium; Shovlin CL. Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline. J Med Genet. 2020 Dec;57(12):859-862. doi: 10.1136/jmedgenet-2019-106794. Epub 2020 Apr 17. No abstract available.'}, {'pmid': '34904380', 'type': 'BACKGROUND', 'citation': 'Balachandar S, Graves TJ, Shimonty A, Kerr K, Kilner J, Xiao S, Slade R, Sroya M, Alikian M, Curetean E, Thomas E, McConnell VPM, McKee S, Boardman-Pretty F, Devereau A, Fowler TA, Caulfield MJ, Alton EW, Ferguson T, Redhead J, McKnight AJ, Thomas GA; Genomics England Research Consortium; Aldred MA, Shovlin CL. Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations. Am J Med Genet A. 2022 Mar;188(3):959-964. doi: 10.1002/ajmg.a.62584. Epub 2021 Dec 13.'}, {'pmid': '18000608', 'type': 'RESULT', 'citation': 'Shovlin CL, Sulaiman NL, Govani FS, Jackson JE, Begbie ME. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Thromb Haemost. 2007 Nov;98(5):1031-9.'}, {'pmid': '24586400', 'type': 'RESULT', 'citation': 'Shovlin CL, Chamali B, Santhirapala V, Livesey JA, Angus G, Manning R, Laffan MA, Meek J, Tighe HC, Jackson JE. Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. PLoS One. 2014 Feb 19;9(2):e88812. doi: 10.1371/journal.pone.0088812. eCollection 2014.'}]}, 'descriptionModule': {'briefSummary': 'Hereditary Haemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome) is an inherited vascular disease that leads to the development of dilated and fragile blood vessels. The study goal is to culture white blood cells that express the proteins mutated in HHT and examine in the laboratory to explain aspects of the HHT disease phenotype.', 'detailedDescription': 'HHT is a vascular condition but many of the genes that are mutated to cause HHT (endoglin, ALK-1 and SMAD4) are also expressed in white blood cells. In this study, investigators will take blood samples from people with HHT, culture the white blood cells and study their properties in media prompting different types of differentiation, or infection of cell lines with Epstein Barr virus to provide cell lines which can be repeatedly studied. RNA and proteins will be extracted from these cells for study of white cell responses and association with expression levels of endoglin, ALK-1 and SMAD4. The investigators hypothesize that these cells which express "half-normal" endoglin, ALK-1 or SMAD4 will show differences when compared to normal white blood cells. It is also anticipated that that these findings may help to explain aspects of the HHT disease phenotype.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with hereditary hemorrhagic telangiectasia (HHT) and controls', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients with HHT,\n* HHT patients family members\n\nExclusion Criteria:\n\n* Unable to provide informed consent'}, 'identificationModule': {'nctId': 'NCT00230633', 'briefTitle': 'Studies of White Blood Cells Derived From HHT Patients', 'organization': {'class': 'OTHER', 'fullName': 'Imperial College London'}, 'officialTitle': 'Studies of White Blood Cells Derived From HHT Patients', 'orgStudyIdInfo': {'id': 'IC/CLS3'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Patients with HHT', 'description': 'People with molecularly confirmed HHT. No intervention, blood sample only'}, {'label': 'Controls', 'description': 'People without HHT No intervention, blood sample only'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'W12 0NN', 'city': 'London', 'country': 'United Kingdom', 'facility': 'Imperial College Hammersmith Campus', 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}], 'overallOfficials': [{'name': 'Claire L Shovlin', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Imperial College London'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Imperial College London', 'class': 'OTHER'}, 'collaborators': [{'name': 'British Heart Foundation', 'class': 'OTHER'}], 'responsibleParty': {'type': 'SPONSOR'}}}}