Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
NCT ID: NCT00230620
Last Updated: 2023-09-28
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
1000 participants
OBSERVATIONAL
1998-12-31
2030-04-30
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm
NCT02256163
National Cohort Study of Idiopathic and Heritable Pulmonary Arterial Hypertension
NCT01907295
Genotype-phenotype Association in Hereditary Hemorrhagic Telangiectasia
NCT05550376
Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia
NCT00005313
Study on Genetically Affected Sporadic Thoracic Aortic Aneurysm and Dissection
NCT02852603
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
FAMILY_BASED
OTHER
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Individuals with HHT and their families
No intervention - blood or saliva sample only
No interventions assigned to this group
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
Exclusion Criteria
ALL
No
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
British Heart Foundation
OTHER
Imperial College London
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Claire L Shovlin
Role: PRINCIPAL_INVESTIGATOR
Imperial College London
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Imperial College Hammersmith Campus
London, , United Kingdom
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Facility Contacts
Find local site contact details for specific facilities participating in the trial.
References
Explore related publications, articles, or registry entries linked to this study.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
IC/CLS1
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.