Clinical trial NCT00230659: Investigation of Coagulation Parameters in Hereditary Haemorrhagic Telangiectasia
Official title: Investigation of Coagulation Parameters in Hereditary Haemorrhagic
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Telangiectasia, Hereditary Hemorrhagic
Lead sponsor: Imperial College London
Sponsor class: OTHER
Collaborators: name: Hammersmith Hospitals NHS Trust
First posted: 2005-10-03
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 'Patients with HHT' have a clinical diagnosis of hereditary haemorrhagic telangiectasia (HHT)

'Normal controls' have NO clinical diagnosis of hereditary haemorrhagic telangiectasia (HHT), and are not blood relatives of someone with HHT."

Brief summary: We will address coagulation parameters in hereditary haemorrhagic telangiectasia (HHT) compared to controls.

Detailed description: The inherited disease hereditary haemorrhagic telangiectasia (HHT) causes bleeding from dilated fragile vessels, particularly in the nose and gut. However, many HHT patients develop deep venous thromboses and/or pulmonary embolism, necessitating treatments with anticoagulants that further impair control of their haemorrhagic state. Our initial observations using general coagulation tests suggest that the blood of HHT patients is intrinsically hypercoagulable.

We hypothesize that the genetically-determined abnormality in the blood vessels of HHT patients leads to alteration in the concentrations or activity of one or several of the proteins which affect blood clotting leading to a hypercoagulable state.

We propose to study levels and activity of blood coagulation factors in people with hereditary haemorrhagic telangiectasia and in normal volunteers. This should define the significance and basis for our initial observations, and will have significant implications for the clinical management of HHT patients.

Eligibility criteria: Inclusion Criteria:

* Patients with HHT and normal controls

Exclusion Criteria:

* Previous thrombosis, recent ill health

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: London
country: United Kingdom
facility: Imperial College Hammersmith Campus
Study officials:
affiliation: Imperial College London
name: Claire Shovlin
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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.
citation: 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.