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Study of Histological Samples From Patients With Hereditary Haemorrhagic Telangiectasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00733655
Recruitment Status : Active, not recruiting
First Posted : August 13, 2008
Last Update Posted : April 16, 2019
Information provided by (Responsible Party):
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 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.

Condition or disease
Telangiectasia, Hereditary Hemorrhagic

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Study Type : Observational
Estimated Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Study Start Date : September 2008
Estimated Primary Completion Date : August 2020
Estimated Study Completion Date : August 2020

Biospecimen Retention:   Samples Without DNA
Histological samples

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
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

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 identifier (NCT number): NCT00733655

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United Kingdom
Imperial College Hammersmith Campus
London, United Kingdom, W12 0NN
Sponsors and Collaborators
Imperial College London
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Principal Investigator: Claire L Shovlin Imperial College London
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Responsible Party: Imperial College London Identifier: NCT00733655    
Other Study ID Numbers: IC/CLS5
First Posted: August 13, 2008    Key Record Dates
Last Update Posted: April 16, 2019
Last Verified: April 2019
Additional relevant MeSH terms:
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Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities