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Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia

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ClinicalTrials.gov Identifier: NCT00733629
Recruitment Status : Unknown
Verified August 2008 by Imperial College London.
Recruitment status was:  Active, not recruiting
First Posted : August 13, 2008
Last Update Posted : August 13, 2008
Sponsor:
Information provided by:
Imperial College London

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 culture endothelial cells from patients with HHT, to culture 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 different conditions and anticipate that DNA, mRNA and proteins will be extracted from these cells for study of 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 Type : Observational
Estimated Enrollment : 100 participants
Time Perspective: Prospective
Official Title: In Vitro Studies pf Endothelial Cells Derived From HHT Patients






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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 hereditary haemorrhagic telangiectasia and family members

Exclusion Criteria:

  • Unable to provide informed consent

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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): NCT00733629


Locations
United Kingdom
Imperial College Hammersmith Campus
London, United Kingdom, W12 0NN
Sponsors and Collaborators
Imperial College London
Investigators
Principal Investigator: Claire L Shovlin Imperial College London

ClinicalTrials.gov Identifier: NCT00733629     History of Changes
Other Study ID Numbers: IC/CLS4
First Posted: August 13, 2008    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