Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
1 other identifier
observational
1,000
1 country
1
Brief Summary
This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Dec 1998
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
December 1, 1998
CompletedFirst Submitted
Initial submission to the registry
September 29, 2005
CompletedFirst Posted
Study publicly available on registry
October 3, 2005
CompletedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2030
ExpectedStudy Completion
Last participant's last visit for all outcomes
April 1, 2030
September 28, 2023
September 1, 2023
31.4 years
September 29, 2005
September 25, 2023
Conditions
Study Arms (1)
Individuals with HHT and their families
No intervention - blood or saliva sample only
Eligibility Criteria
Patients with hereditary haemorrhagic telangiectasia and their families
You may qualify if:
- Member of family affected by HHT
You may not qualify if:
- Unable or unwilling to provide informed consent for DNA sample
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Imperial College Londonlead
- British Heart Foundationcollaborator
Study Sites (1)
Imperial College Hammersmith Campus
London, W12 0NN, United Kingdom
Related Publications (9)
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: 15994879RESULTGovani 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: 20701797RESULTClarke 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: 32303606RESULTShovlin 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: 32573726RESULTBalachandar 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: 34904380RESULTAnderson 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: 35165143RESULTJoyce 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: 35316832RESULTShovlin 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: 37586837RESULTSharma 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.
PMID: 37731378RESULT
Biospecimen
DNA samples
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Claire L Shovlin
Imperial College London
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- FAMILY BASED
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
September 29, 2005
First Posted
October 3, 2005
Study Start
December 1, 1998
Primary Completion (Estimated)
April 1, 2030
Study Completion (Estimated)
April 1, 2030
Last Updated
September 28, 2023
Record last verified: 2023-09