Ignite Creation Date:
2025-12-25 @ 4:11 AM
Ignite Modification Date:
2025-12-26 @ 3:10 AM
Study NCT ID:
NCT00230620
Status:
RECRUITING
Last Update Posted:
2023-09-28
First Post:
2005-09-29
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D013683', 'term': 'Telangiectasia, Hereditary Hemorrhagic'}], 'ancestors': [{'id': 'D020141', 'term': 'Hemostatic Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D013684', 'term': 'Telangiectasis'}, {'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_WITH_DNA', 'description': 'DNA samples'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '1998-12', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-09', 'completionDateStruct': {'date': '2030-04', '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': '2030-04', 'type': 'ESTIMATED'}}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Telangiectasia, Hereditary Hemorrhagic']}, 'referencesModule': {'references': [{'pmid': '15994879', 'type': 'RESULT', 'citation': 'Cole SG, Begbie ME, Wallace GM, Shovlin CL. A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5. J Med Genet. 2005 Jul;42(7):577-82. doi: 10.1136/jmg.2004.028712.'}, {'pmid': '20701797', 'type': 'RESULT', 'citation': 'Govani FS, Shovlin CL. Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes. J Angiogenes Res. 2010 Aug 11;2:15. doi: 10.1186/2040-2384-2-15.'}, {'pmid': '32303606', 'type': 'RESULT', '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': '32573726', 'type': 'RESULT', 'citation': 'Shovlin CL, Simeoni I, Downes K, Frazer ZC, Megy K, Bernabeu-Herrero ME, Shurr A, Brimley J, Patel D, Kell L, Stephens J, Turbin IG, Aldred MA, Penkett CJ, Ouwehand WH, Jovine L, Turro E. Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia. Blood. 2020 Oct 22;136(17):1907-1918. doi: 10.1182/blood.2019004560.'}, {'pmid': '34904380', 'type': 'RESULT', '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': '35165143', 'type': 'RESULT', 'citation': 'Anderson E, Sharma L, Alsafi A, Shovlin CL. Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia. Thorax. 2022 Jun;77(6):628-630. doi: 10.1136/thoraxjnl-2021-218332. Epub 2022 Feb 14.'}, {'pmid': '35316832', 'type': 'RESULT', 'citation': 'Joyce KE, Onabanjo E, Brownlow S, Nur F, Olupona K, Fakayode K, Sroya M, Thomas GA, Ferguson T, Redhead J, Millar CM, Cooper N, Layton DM, Boardman-Pretty F, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation. Blood Adv. 2022 Jul 12;6(13):3956-3969. doi: 10.1182/bloodadvances.2022007136.'}, {'pmid': '37586837', 'type': 'RESULT', 'citation': "Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, Research Consortium GE. Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project. J Med Genet. 2024 Jan 19;61(2):182-185. doi: 10.1136/jmg-2023-109195. No abstract available."}, {'pmid': '37731378', 'type': 'RESULT', 'citation': 'Sharma L, Almaghlouth F, Mckernan H, Springett J, Tighe HC, Shovlin CL. Iron deficiency responses and integrated compensations in patients according to hereditary hemorrhagic telangiectasia ACVRL1, ENG and SMAD4 genotypes. Haematologica. 2024 Mar 1;109(3):958-962. doi: 10.3324/haematol.2022.282038. No abstract available.'}]}, 'descriptionModule': {'briefSummary': 'This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)', 'detailedDescription': 'Hereditary haemorrhagic telangiectasia (HHT) is a condition inherited as an autosomal dominant trait. Sequencing DNA from affected and unaffected family members allows us to identify disease-causal genes. Sequencing these genes allows us to identify what the precise DNA variants are which are causing disease, particularly if linked to functional assays in separate studies.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients with hereditary haemorrhagic telangiectasia and their families', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Member of family affected by HHT\n\nExclusion Criteria:\n\n* Unable or unwilling to provide informed consent for DNA sample'}, 'identificationModule': {'nctId': 'NCT00230620', 'briefTitle': 'Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families', 'organization': {'class': 'OTHER', 'fullName': 'Imperial College London'}, 'officialTitle': 'Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations', 'orgStudyIdInfo': {'id': 'IC/CLS1'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Individuals with HHT and their families', 'description': 'No intervention - blood or saliva sample only'}]}, 'contactsLocationsModule': {'locations': [{'zip': 'W12 0NN', 'city': 'London', 'status': 'RECRUITING', 'country': 'United Kingdom', 'contacts': [{'name': 'Claire L Shovlin', 'role': 'CONTACT', 'email': 'c.shovlin@imperial.ac.uk', 'phone': '0208 383 1000'}, {'name': 'Claire L Shovlin', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Imperial College Hammersmith Campus', 'geoPoint': {'lat': 51.50853, 'lon': -0.12574}}], 'centralContacts': [{'name': 'Claire L Shovlin', 'role': 'CONTACT', 'email': 'c.shovlin@imperial.ac.uk', 'phone': '0208 383 1000'}], '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'}}}}