Clinical Trial: Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
Brief Summary:
The primary objectives of the study are
- to assess the contribution of alteration of each known gene on non-syndromic TAA.
- to map and identify unknown gene involved in the non-syndromic TAA.
Detailed Summary:
The secondary objectives of the study are
- to study the correlation of phenotype-genotype, in particular, to compare the aortic phenotype of non-syndromic TAA patients and TAA syndromic patients.
- to develop national standardized strategies of genetic diagnosis and of clinical management using genetic data.
Sponsor: Assistance Publique - Hôpitaux de Paris
Current Primary Outcome: Impact of known mutations and research of new genes involved in non syndromic TAA [ Time Frame: 1 year ]
Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.
Research for new genes in families and in individuals TAA patients without known mutation.
Original Primary Outcome: Impact of known mutations and research of new genes involved in non sydromic TAA [ Time Frame: 1 year ]
Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.
Research for new genes in families and in individuals TAA patients without known mutation.
Current Secondary Outcome:
Original Secondary Outcome:
Information By: Assistance Publique - Hôpitaux de Paris
Dates:
Date Received: October 1, 2014
Date Started: June 2011
Date Completion: September 2017
Last Updated: November 3, 2016
Last Verified: November 2016
