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Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Imperial College London Identifier:
First received: August 12, 2008
Last updated: May 28, 2015
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 obtain small skin samples from patients with HHT in order to analyze the samples using histological methods, and study the properties of vascular endothelial cells derived from patients. We hypothesize that these cells will show altered growth, migration, and protein synthetic differences when compared to normal endothelial cells, which may be confirmed in single time point analyses in histological samples. We anticipate that that these findings may help to explain aspects of the HHT disease phenotype.

Telangiectasia, Hereditary Hemorrhagic

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective

Resource links provided by NLM:

Further study details as provided by Imperial College London:

Biospecimen Retention:   Samples Without DNA
Histological samples

Estimated Enrollment: 50
Study Start Date: September 2008
Estimated Study Completion Date: August 2020
Estimated Primary Completion Date: August 2020 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with hereditary hemorrhagic telangiectasia (HHT)

Inclusion Criteria:

  • Patients with Hereditary Haemorrhagic Telangiectasia

Exclusion Criteria:

  • Unable to provide informed consent
  Contacts and Locations
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Please refer to this study by its identifier: NCT00733655

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

Responsible Party: Imperial College London Identifier: NCT00733655     History of Changes
Other Study ID Numbers: IC/CLS5
Study First Received: August 12, 2008
Last Updated: May 28, 2015

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 August 16, 2017