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Studies of White Blood Cells Derived From HHT Patients

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ClinicalTrials.gov Identifier: NCT00230633
Recruitment Status : Unknown
Verified August 2008 by Imperial College London.
Recruitment status was:  Recruiting
First Posted : October 3, 2005
Last Update Posted : August 13, 2008
Sponsor:
Collaborator:
British Heart Foundation
Information provided by:
Imperial College London

Study Description
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Brief Summary:
Hereditary Haemorrhagic Telangiectasia (HHT, also known as Osler-Weber-Rendu Syndrome) is an disease that leads to the development of dilated and fragile blood vessels. We propose to take blood samples from patients with HHT, and culture white blood cells that express the proteins mutated in HHT, namely endoglin and ALK-1. We will study the properties of these cells which will involve their growth in media prompting different types of differentiation, or infection of cell lines with Epstein Barr virus to provide cell lines which can be repeatedly studied. It is anticipated that DNA, mRNA and proteins will be extracted from these cells for study of white cell responses and association with expression levels of endoglin and ALK-1 We hypothesize that these cells which express "half-normal" endoglin or ALK-1 will show altered protein synthetic differences when compared to normal white blood cells. We anticipate that that these findings may help to explain aspects of the HHT disease phenotype.

Condition or disease
Telangiectasia, Hereditary Hemorrhagic

Study Design
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Study Type : Observational
Estimated Enrollment : 200 participants
Time Perspective: Prospective
Official Title: Studies of White Blood Cells Derived From HHT Patients
Study Start Date : April 2002
Groups and Cohorts
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Outcome Measures
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Eligibility Criteria
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Patients with HHT, and family members

Exclusion Criteria:

  • Unable to provide informed consent
Contacts and Locations
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00230633


Contacts
Contact: Claire L Shovlin 0208 383 1000 c.shovlin@imperial.ac.uk

Locations
United Kingdom
Imperial College Hammersmith Campus Recruiting
London, United Kingdom, W12 0NN
Contact: Claire L Shovlin    0208 383 1000    c.shovlin@imperial.ac.uk   
Principal Investigator: Claire L Shovlin         
Sponsors and Collaborators
Imperial College London
British Heart Foundation
Investigators
Principal Investigator: Claire L Shovlin Imperial College London
More Information
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

ClinicalTrials.gov Identifier: NCT00230633     History of Changes
Other Study ID Numbers: IC/CLS3
First Posted: October 3, 2005    Key Record Dates
Last Update Posted: August 13, 2008
Last Verified: August 2008

Additional relevant MeSH terms:
Telangiectasis
Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
 Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities