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Studies of White Blood Cells Derived From HHT Patients

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified August 2008 by Imperial College London.
Recruitment status was:  Recruiting
British Heart Foundation
Information provided by:
Imperial College London Identifier:
First received: September 29, 2005
Last updated: August 12, 2008
Last verified: August 2008
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.

Telangiectasia, Hereditary Hemorrhagic

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Studies of White Blood Cells Derived From HHT Patients

Further study details as provided by Imperial College London:

Estimated Enrollment: 200
Study Start Date: April 2002

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

Inclusion Criteria:

  • Patients with HHT, and family members

Exclusion Criteria:

  • Unable to provide informed consent
  Contacts and Locations
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Please refer to this study by its identifier: NCT00230633

Contact: Claire L Shovlin 0208 383 1000

United Kingdom
Imperial College Hammersmith Campus Recruiting
London, United Kingdom, W12 0NN
Contact: Claire L Shovlin    0208 383 1000   
Principal Investigator: Claire L Shovlin         
Sponsors and Collaborators
Imperial College London
British Heart Foundation
Principal Investigator: Claire L Shovlin Imperial College London
  More Information Identifier: NCT00230633     History of Changes
Other Study ID Numbers: IC/CLS3
Study First Received: September 29, 2005
Last Updated: August 12, 2008

Additional relevant MeSH terms:
Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities processed this record on September 21, 2017