Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2008 by Imperial College London
Sponsor:
Collaborator:
British Heart Foundation
Information provided by (Responsible Party):
Imperial College London
ClinicalTrials.gov Identifier:
NCT00230620
First received: September 29, 2005
Last updated: May 28, 2015
Last verified: August 2008
  Purpose

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
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)
  Eligibility

Genders Eligible for Study:   Both
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
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 ClinicalTrials.gov identifier: 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

No publications provided

Responsible Party: Imperial College London
ClinicalTrials.gov Identifier: NCT00230620     History of Changes
Other Study ID Numbers: IC/CLS1
Study First Received: September 29, 2005
Last Updated: May 28, 2015
Health Authority: United Kingdom: Research Ethics Committee

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

ClinicalTrials.gov processed this record on August 27, 2015