Clinical Trial: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families With Pulmonary Arteriovenous Malformations

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.

Detailed Summary:
Sponsor: Imperial College London

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Information By: Imperial College London

Dates:
Date Received: September 29, 2005
Date Started: December 1998
Date Completion: November 2020
Last Updated: May 28, 2015
Last Verified: August 2008