Study of Endothelial Cells in Patients With Hereditary Haemorrhagic Telangiectasia

The recruitment status of this study is unknown because the information has not been verified recently.
Verified August 2008 by Imperial College London.
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by:
Imperial College London
ClinicalTrials.gov Identifier:
NCT00733629
First received: August 12, 2008
Last updated: NA
Last verified: August 2008
History: No changes posted
  Purpose

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
Telangiectasia, Hereditary Hemorrhagic

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: In Vitro Studies pf Endothelial Cells Derived From HHT Patients

Resource links provided by NLM:


Further study details as provided by Imperial College London:

Estimated Enrollment: 100
  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

Inclusion Criteria:

  • Patients with hereditary haemorrhagic telangiectasia and family members

Exclusion Criteria:

  • Unable to provide informed consent
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: 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
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00733629     History of Changes
Other Study ID Numbers: IC/CLS4
Study First Received: August 12, 2008
Last Updated: August 12, 2008
Health Authority: United Kingdom: Research Ethics Committee

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

ClinicalTrials.gov processed this record on October 29, 2014