ClinicalTrials.gg
RecruitingNCT00230620Updated Sep 28, 2023

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

An observational study in Telangiectasia, Hereditary Hemorrhagic, sponsored by Imperial College London. Recruiting at 1 site in United Kingdom. Per ClinicalTrials.gov, last updated 2023-09-28.

Sponsored by Imperial College London · Observational

From the registry’s dates

  • Started Dec 1998; still recruiting 27 years 11 months later.

Help build ClinicalTrials.gg — short surveys, remote interviews or testing, in your language. Take part →

Study type
Observational
Model
Family-based
Time perspective
Other
Enrollment
1,000
Sex
All
01

Where this study stands

Counted across the records on this site · 2026-11-14

Among 13 studies in Telangiectasia, Hereditary Hemorrhagic by Imperial College London — 2 open to participants now, 3 under way, none of them phase 3. Telangiectasia, Hereditary Hemorrhagic · Imperial College London.

Started
1998
the only one that year
Observational
8 of 13
2 open now
Registered
1st of 13
by date

Among the 13 studies in Telangiectasia, Hereditary Hemorrhagic by Imperial College London, this one is the only one that started in 1998, is one of 8 observational ones, and was the 1st registered.

Telangiectasia, Hereditary Hemorrhagic

106 studies on the registry are indexed under Telangiectasia, Hereditary Hemorrhagic; 24 are open to participants now.

Browse Telangiectasia, Hereditary Hemorrhagic studies →

Open to participants now

2 of the 13 studies in Telangiectasia, Hereditary Hemorrhagic by Imperial College London are open now, in 1 country. Recruiting first, the newest first:

By country, each count listing its studies:

All 2 open studies →

Where they have run

Who these studies take

Of the 17 Telangiectasia, Hereditary Hemorrhagic studies recruiting now, 14 (82%) set no upper age limit and 2 (12%) stop at 75 or younger; 6 take children under 18; 3 take healthy volunteers.

This study: all sexes · no healthy volunteers.

The full table on the hub →

This tab as a report to print or save as PDF → With an account.

Was this useful?
Watch this landscapeDownload CSVNarrow it in search →With an account: a weekly mail of what changed among 13 studies in Telangiectasia, Hereditary Hemorrhagic by Imperial College London, or all of them as a file.
02

Study summary

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.

03

Conditions studied

  • Telangiectasia, Hereditary Hemorrhagic
04

Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

Patients with hereditary haemorrhagic telangiectasia and their families

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

  • Member of family affected by HHT

Exclusion criteria

Exclusion Criteria:

  • Unable or unwilling to provide for DNA sample
Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

05

Study design

Observational model
Family-based
Time perspective
Other
Enrollment
1,000 participants (estimated)
Biospecimen retention
Samples with dna

Groups and cohorts

  • Individuals with HHT and their families

    No intervention - blood or saliva sample only

06

Study locations

1 of 1 sites recruiting
  • Imperial College Hammersmith Campus
    London, W12 0NN, United Kingdom
    Recruiting
07

References and documents

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 15994879 ↗
  • 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. PubMed 20701797 ↗
  • 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. PubMed 32303606 ↗
  • 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. PubMed 32573726 ↗
  • 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. PubMed 34904380 ↗
  • 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. PubMed 35165143 ↗
  • 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. PubMed 35316832 ↗
  • 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. PubMed 37586837 ↗
  • 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. PubMed 37731378 ↗
08

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Dec 1998 (actual). Primary completion is estimated for Apr 2030, 376 months after the start.

Of 23 observational studies under Telangiectasia, Hereditary Hemorrhagic, half reached primary completion within 56 months of starting (the median), counting those still running; a quarter within 36 and three quarters within 184. This study's planned 376 months is above that.

How these figures are worked out, and which studies are left out of them.

Registered
Sep 29, 2005
First posted
Oct 3, 2005
StartActual
Dec 1998
Primary completionEst.
Apr 2030
CompletionEst.
Apr 2030
Last update
Sep 28, 2023
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Sep 28, 2023, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT00230620
Collaborators
British Heart Foundation
Responsible party
Sponsor
First posted
Oct 3, 2005
Start date
Dec 1998
Primary completion
Apr 2030 (estimated)
Completion
Apr 2030 (estimated)
Last update
Sep 28, 2023

Study contacts

Claire L Shovlin
Contact
c.shovlin@imperial.ac.uk
0208 383 1000
Claire L Shovlin
principal investigator · Imperial College London

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Interested in this study?

Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.

Contact study team

Follow this study

Get an email when the registry record changes — status, dates, results — or when someone posts here.

Sign in to follow

Discussion

Questions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.

Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.

Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.

Start the discussion