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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2008 by Imperial College London
British Heart Foundation
Information provided by (Responsible Party):
Imperial College London Identifier:
First received: September 29, 2005
Last updated: May 28, 2015
Last verified: August 2008
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.

Telangiectasia, Hereditary Hemorrhagic

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations

Resource links provided by NLM:

Further study details as provided by Imperial College London:

Estimated Enrollment: 250
Study Start Date: December 1998
Estimated Study Completion Date: November 2020
Estimated Primary Completion Date: November 2018 (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 haemorrhagic telangiectasia and their families

Inclusion Criteria:

  • Member of family affected by HHT

Exclusion Criteria:

  • Unable or unwilling to provide informed consent for DNA sample
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00230620

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

Responsible Party: Imperial College London Identifier: NCT00230620     History of Changes
Other Study ID Numbers: IC/CLS1
Study First Received: September 29, 2005
Last Updated: May 28, 2015

Additional relevant MeSH terms:
Arteriovenous Malformations
Telangiectasia, Hereditary Hemorrhagic
Vascular Malformations
Cardiovascular Abnormalities
Cardiovascular Diseases
Vascular Diseases
Congenital Abnormalities
Hemostatic Disorders
Hemorrhagic Disorders
Hematologic Diseases processed this record on May 23, 2017