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RecruitingNCT00230685Updated Sep 28, 2023

Case Notes Review on Patients With Hereditary Haemorrhagic Telangiectasia

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 Jan 2000; still recruiting 26 years 10 months later.

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Study type
Observational
Model
Cohort
Time perspective
Prospective
Enrollment
2,000
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
2000
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 2000, 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.

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02

Study summary

This observational study is for individuals with Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations that are reviewed at the Hammersmith Hospital, London.

Read the detailed description

The Hammersmith Hospital provides a clinical service for patients with Hereditary haemorrhagic telangiectasia and pulmonary arteriovenous malformations that is unique in the United Kingdom. Measurements obtained as part of standard clinical practice that has evolved since 1985 allow us to assess whether particular groups of individuals that we see are more prone to recognised complications such as strokes, brain abscesses, pregnancy related complications or pulmonary hypertension. We hypothesise that certain clinical characteristics will predict the susceptibility of individuals to particular complications.

03

Conditions studied

  • Telangiectasia, Hereditary Hemorrhagic

Keywords

  • Pulmonary arteriovenous malformations
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 referred to the hereditary haemorrhagic telangiectasia clinical service at Hammersmith Hospital, imperial College Healthcare NHS Trust

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

  • Patients attending Hammersmith Hospital

Exclusion criteria

Exclusion Criteria:

  • None
05

Study design

Observational model
Cohort
Time perspective
Prospective
Enrollment
2,000 participants (estimated)
06

What researchers measure

Primary outcomes

  1. Stroke

    Ischaemic stroke attributable to PAVMs

    Time frame: Prospective

  2. Venous thromboemboli (VTE)

    VTE of any origin

    Time frame: Prospective

07

Study locations

1 of 1 sites recruiting
  • Respiratory Medicine, Hammersmith Hospital
    London, W12 0NN, United Kingdom
    Recruiting
08

References and documents

Publications

  • Easey AJ, Wallace GM, Hughes JM, Jackson JE, Taylor WJ, Shovlin CL. Should asymptomatic patients with hereditary haemorrhagic telangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life. J Neurol Neurosurg Psychiatry. 2003 Jun;74(6):743-8. doi: 10.1136/jnnp.74.6.743. PubMed 12754343 ↗
  • Shovlin CL, Jackson JE, Bamford KB, Jenkins IH, Benjamin AR, Ramadan H, Kulinskaya E. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008 Mar;63(3):259-66. doi: 10.1136/thx.2007.087452. Epub 2007 Nov 2. PubMed 17981912 ↗
  • Shovlin CL, Sulaiman NL, Govani FS, Jackson JE, Begbie ME. Elevated factor VIII in hereditary haemorrhagic telangiectasia (HHT): association with venous thromboembolism. Thromb Haemost. 2007 Nov;98(5):1031-9. PubMed 18000608 ↗
  • Shovlin CL, Sodhi V, McCarthy A, Lasjaunias P, Jackson JE, Sheppard MN. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG. 2008 Aug;115(9):1108-15. doi: 10.1111/j.1471-0528.2008.01786.x. Epub 2008 May 30. PubMed 18518871 ↗
  • Roked F, Jackson JE, Fuld J, Basheer FT, Chilvers ER, Beattie S, Shovlin CL. Pulmonary thromboemboli modifying the natural history of pulmonary arteriovenous malformations. Am J Respir Crit Care Med. 2011 Mar 15;183(6):828-9. doi: 10.1164/ajrccm.183.6.828. No abstract available. PubMed 21471070 ↗
  • Livesey JA, Manning RA, Meek JH, Jackson JE, Kulinskaya E, Laffan MA, Shovlin CL. Low serum iron levels are associated with elevated plasma levels of coagulation factor VIII and pulmonary emboli/deep venous thromboses in replicate cohorts of patients with hereditary haemorrhagic telangiectasia. Thorax. 2012 Apr;67(4):328-33. doi: 10.1136/thoraxjnl-2011-201076. Epub 2011 Dec 14. PubMed 22169361 ↗
  • Shovlin CL, Chamali B, Santhirapala V, Livesey JA, Angus G, Manning R, Laffan MA, Meek J, Tighe HC, Jackson JE. Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. PLoS One. 2014 Feb 19;9(2):e88812. doi: 10.1371/journal.pone.0088812. eCollection 2014. PubMed 24586400 ↗
  • Shovlin CL, Tighe HC, Davies RJ, Gibbs JS, Jackson JE. Embolisation of pulmonary arteriovenous malformations: no consistent effect on pulmonary artery pressure. Eur Respir J. 2008 Jul;32(1):162-9. doi: 10.1183/09031936.00126207. Epub 2008 Apr 2. PubMed 18385173 ↗
  • Santhirapala V, Williams LC, Tighe HC, Jackson JE, Shovlin CL. Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity: an observational study of hypoxaemic patients with pulmonary arteriovenous malformations. PLoS One. 2014 Mar 17;9(3):e90777. doi: 10.1371/journal.pone.0090777. eCollection 2014. PubMed 24637882 ↗
  • Rizvi A, Macedo P, Babawale L, Tighe HC, Hughes JMB, Jackson JE, Shovlin CL. Hemoglobin Is a Vital Determinant of Arterial Oxygen Content in Hypoxemic Patients with Pulmonary Arteriovenous Malformations. Ann Am Thorac Soc. 2017 Jun;14(6):903-911. doi: 10.1513/AnnalsATS.201611-872OC. PubMed 28267932 ↗
  • Boother EJ, Brownlow S, Tighe HC, Bamford KB, Jackson JE, Shovlin CL. Cerebral Abscess Associated With Odontogenic Bacteremias, Hypoxemia, and Iron Loading in Immunocompetent Patients With Right-to-Left Shunting Through Pulmonary Arteriovenous Malformations. Clin Infect Dis. 2017 Aug 15;65(4):595-603. doi: 10.1093/cid/cix373. PubMed 28430880 ↗
  • Shovlin CL, Buscarini E, Hughes JMB, Allison DJ, Jackson JE. Long-term outcomes of patients with pulmonary arteriovenous malformations considered for lung transplantation, compared with similarly hypoxaemic cohorts. BMJ Open Respir Res. 2017 Oct 13;4(1):e000198. doi: 10.1136/bmjresp-2017-000198. eCollection 2017. PubMed 29071074 ↗
  • Thielemans L, Layton DM, Shovlin CL. Low serum haptoglobin and blood films suggest intravascular hemolysis contributes to severe anemia in hereditary hemorrhagic telangiectasia. Haematologica. 2019 Apr;104(4):e127-e130. doi: 10.3324/haematol.2018.205682. Epub 2018 Oct 18. No abstract available. PubMed 30337360 ↗
  • Fatania G, Gilson C, Glover A, Alsafi A, Jackson JE, Patel MC, Shovlin CL. Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia. Intractable Rare Dis Res. 2018 Nov;7(4):236-244. doi: 10.5582/irdr.2018.01103. PubMed 30560015 ↗
  • Gawecki F, Strangeways T, Amin A, Perks J, McKernan H, Thurainatnam S, Rizvi A, Jackson JE, Santhirapala V, Myers J, Brown J, Howard LSGE, Tighe HC, Shovlin CL. Exercise capacity reflects airflow limitation rather than hypoxaemia in patients with pulmonary arteriovenous malformations. QJM. 2019 May 1;112(5):335-342. doi: 10.1093/qjmed/hcz023. PubMed 30657990 ↗
  • Gawecki F, Myers J, Shovlin CL. Veterans Specific Activity Questionnaire (VSAQ): a new and efficient method of assessing exercise capacity in patients with pulmonary arteriovenous malformations. BMJ Open Respir Res. 2019 Mar 1;6(1):e000351. doi: 10.1136/bmjresp-2018-000351. eCollection 2019. PubMed 30956797 ↗
  • Shovlin CL, Millar CM, Droege F, Kjeldsen A, Manfredi G, Suppressa P, Ugolini S, Coote N, Fialla AD, Geisthoff U, Lenato GM, Mager HJ, Pagella F, Post MC, Sabba C, Sure U, Torring PM, Dupuis-Girod S, Buscarini E; VASCERN-HHT. Safety of direct oral anticoagulants in patients with hereditary hemorrhagic telangiectasia. Orphanet J Rare Dis. 2019 Aug 28;14(1):210. doi: 10.1186/s13023-019-1179-1. PubMed 31462308 ↗
  • 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 ↗
  • 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 ↗
  • Mukhtar G, Shovlin CL. Unsupervised machine learning algorithms identify expected haemorrhage relationships but define unexplained coagulation profiles mapping to thrombotic phenotypes in hereditary haemorrhagic telangiectasia. EJHaem. 2023 Jul 3;4(3):602-611. doi: 10.1002/jha2.746. eCollection 2023 Aug. PubMed 37601877 ↗
  • 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 ↗
09

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 Jan 2000 (actual). Primary completion is estimated for Jan 2028, 336 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 336 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
Jan 2000
Primary completionEst.
Jan 2028
CompletionEst.
Jan 2028
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 ↗
10

Registry details

Key details

Study ID
NCT00230685
Collaborators
The Margaret Hayton HHT Fund
Responsible party
Sponsor
First posted
Oct 3, 2005
Start date
Jan 2000
Primary completion
Jan 2028 (estimated)
Completion
Jan 2028 (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
View the source record on ClinicalTrials.gov ↗

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