Telangiectasia, Hereditary HemorrhagicNCT00230620
Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
An observational study of Telangiectasia, Hereditary Hemorrhagic, run by Imperial College London at 1 site in United Kingdom.
Trial summary
This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT) Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Telangiectasia, Hereditary Hemorrhagic
- How many people
- 1,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- Dec 1998to Apr 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with hereditary haemorrhagic telangiectasia and their families
Who may be able to join
- Member of family affected by HHT
Who cannot join
- Unable or unwilling to provide informed consent for DNA sample
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United Kingdom1 site, 1 recruiting
- Recruiting
Imperial College Hammersmith Campus
London, W12 0NN
Claire L Shovlin, 0208 383 1000, c.shovlin@imperial.ac.uk
Claire L Shovlin
About this study
Official title: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)
Read the detailed description
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.
- Conditions
- Telangiectasia, Hereditary Hemorrhagic
- Medical subject headings
- Telangiectasia, Hereditary Hemorrhagic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Individuals with HHT and their families | No intervention - blood or saliva sample only |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Oct 2005 (estimated)
- Study startDec 1998
- Primary completionApr 2030 (estimated)
- Study completionApr 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (9)Papers the sponsor has linked to this study.
- Other trials for Telangiectasia, Hereditary HemorrhagicStudies of the same condition, open and under way.
- More trials run by Imperial College LondonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imperial College London
- Sponsor type
- University, hospital or other
- Collaborators
- British Heart Foundation
- Responsible party
- Sponsor
- Investigators
- Claire L Shovlin, Principal investigator, Imperial College London
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00230620
- Sponsor's protocol ID
- IC/CLS1
- Status last verified
- Sep 2023
- First submitted
- 29 Sep 2005
- Last updated
- 28 Sep 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 15994879Govani 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.
PubMed 20701797Clarke 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.
PubMed 32303606Shovlin 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.
PubMed 32573726Balachandar 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.
PubMed 34904380Anderson 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.
PubMed 35165143Joyce 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.
PubMed 35316832Shovlin 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.
PubMed 37586837Sharma 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.
PubMed 37731378
Study at a glance
From the registry record, last updated by the sponsor on 28 Sep 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
- ClinicalTrials.gov ID
- NCT00230620
- Acronym / sponsor ID
- IC/CLS1
- Conditions
- Telangiectasia, Hereditary Hemorrhagic
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Imperial College LondonUniversity, hospital or other
- Collaborators
- British Heart Foundation
- Study start
- Dec 1998 (actual)
- Primary completion
- Apr 2030 (estimated)
- Study completion
- Apr 2030 (estimated)
- First posted
- 3 Oct 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)
Detailed description
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.
Study design
- Observational model
- Family based
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with HHT and their families | – | –No intervention - blood or saliva sample only |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with hereditary haemorrhagic telangiectasia and their families
Key inclusion criteria (1 listed)
- Member of family affected by HHT
Key exclusion criteria (1 listed)
- Unable or unwilling to provide informed consent for DNA sample
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 Sep 2023.
- Results publication: PubMed 15994879Cole 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.
- Results publication: PubMed 20701797Govani 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.
- Results publication: PubMed 32303606Clarke 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.
- Results publication: PubMed 32573726Shovlin 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.
- Results publication: PubMed 34904380Balachandar 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.
- Results publication: PubMed 35165143Anderson 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.
- Results publication: PubMed 35316832Joyce 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.
- Results publication: PubMed 37586837Shovlin 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.
- Results publication: PubMed 37731378Sharma 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Claire L Shovlin principal investigator
Imperial College London
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Telangiectasia, Hereditary Hemorrhagic, run by Imperial College London at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 28 Sep 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Claire L Shovlin (0208 383 1000, c.shovlin@imperial.ac.uk), or a site near the patient. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00230620, which also lists 9 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 28 Sep 2023.