NCT00230633

Brief Summary

Hereditary Haemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome) is an inherited vascular disease that leads to the development of dilated and fragile blood vessels. The study goal is to culture white blood cells that express the proteins mutated in HHT and examine in the laboratory to explain aspects of the HHT disease phenotype.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
200

participants targeted

Target at P75+ for all trials

Timeline
5mo left

Started Apr 2002

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

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 Progress98%
Apr 2002Oct 2026

Study Start

First participant enrolled

April 1, 2002

Completed
3.5 years until next milestone

First Submitted

Initial submission to the registry

September 29, 2005

Completed
4 days until next milestone

First Posted

Study publicly available on registry

October 3, 2005

Completed
21 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 1, 2026

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2026

Last Updated

September 28, 2023

Status Verified

September 1, 2023

Enrollment Period

24.5 years

First QC Date

September 29, 2005

Last Update Submit

September 25, 2023

Conditions

Telangiectasia, Hereditary Hemorrhagic

Keywords

Telangiectasia

Outcome Measures

Primary Outcomes (1)

  • Proteins and cellular markers related to coagulation

    Not specified at outset. Blood samples will be collected over the recruitment period, usually on a single day. Analyses of biomarkers relate to the SAME DAY, within 24hs, though will be evaluated over subsequent months, on average completing in 1-5 years.

    on average completing each biomarker study in 1-5 years

Study Arms (2)

Patients with HHT

People with molecularly confirmed HHT. No intervention, blood sample only

Controls

People without HHT No intervention, blood sample only

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with hereditary hemorrhagic telangiectasia (HHT) and controls

You may qualify if:

  • Patients with HHT,
  • HHT patients family members

You may not qualify if:

  • Unable to provide informed consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Imperial College Hammersmith Campus

London, W12 0NN, United Kingdom

Location

Related Publications (4)

  • 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.

    PMID: 32303606BACKGROUND

  • 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.

    PMID: 34904380BACKGROUND

  • 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.

    PMID: 18000608RESULT

  • 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.

    PMID: 24586400RESULT

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood

MeSH Terms

Conditions

Telangiectasia, Hereditary HemorrhagicTelangiectasis

Condition Hierarchy (Ancestors)

Hemostatic DisordersVascular DiseasesCardiovascular DiseasesHemorrhagic DisordersHematologic DiseasesHemic and Lymphatic DiseasesVascular MalformationsCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Claire L Shovlin

    Imperial College London

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

September 29, 2005

First Posted

October 3, 2005

Study Start

April 1, 2002

Primary Completion (Estimated)

October 1, 2026

Study Completion (Estimated)

October 1, 2026

Last Updated

September 28, 2023

Record last verified: 2023-09

Locations

GB(1)