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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT00230620
Recruitment Status : Recruiting
First Posted : October 3, 2005
Last Update Posted : May 29, 2015
Sponsor:
Collaborator:
Information provided by (Responsible Party):

Study Description
Brief Summary:
Hereditary haemorrhagic telangiectasia is a disease inherited as an autosomal dominant disease. Analysing DNA from affected and unaffected family members allows us to identify the location of disease genes by linkage analysis. Sequencing genes in the interval identified by linkage analysis allows us to identify which precise gene is mutated. Further functional studies can then determine why the mutations in that gene cause the disease.

Condition or disease
Telangiectasia, Hereditary Hemorrhagic

Study Design

Study Type : Observational
Estimated Enrollment : 250 participants
Observational Model: Family-Based
Official Title: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations
Study Start Date : December 1998
Estimated Primary Completion Date : November 2018
Estimated Study Completion Date : November 2020


Groups and Cohorts


Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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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 haemorrhagic telangiectasia and their families
Criteria

Inclusion Criteria:

  • Member of family affected by HHT

Exclusion Criteria:

  • Unable or unwilling to provide informed consent for DNA sample
Contacts and Locations

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 ClinicalTrials.gov identifier (NCT number): NCT00230620


Contacts
Contact: Claire L Shovlin 0208 383 1000 c.shovlin@imperial.ac.uk

Locations
United Kingdom
Imperial College Hammersmith Campus Recruiting
London, United Kingdom, W12 0NN
Contact: Claire L Shovlin    0208 383 1000    c.shovlin@imperial.ac.uk   
Principal Investigator: Claire L Shovlin         
Sponsors and Collaborators
Imperial College London
British Heart Foundation
Investigators
Principal Investigator: Claire L Shovlin Imperial College London
More Information

Responsible Party: Imperial College London
ClinicalTrials.gov Identifier: NCT00230620     History of Changes
Other Study ID Numbers: IC/CLS1
First Posted: October 3, 2005    Key Record Dates
Last Update Posted: May 29, 2015
Last Verified: August 2008

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