Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
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|ClinicalTrials.gov Identifier: NCT02256163|
Recruitment Status : Completed
First Posted : October 3, 2014
Last Update Posted : November 20, 2017
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.
|Condition or disease|
|Thoracic Aortic Aneurysm|
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.
|Study Type :||Observational|
|Actual Enrollment :||258 participants|
|Official Title:||Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)|
|Actual Study Start Date :||June 2011|
|Primary Completion Date :||December 2016|
|Study Completion Date :||March 2017|
- 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.
Biospecimen Retention: Samples With DNA
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): NCT02256163
|Département de Génétique, Hôpital Bichat|
|Paris, Ile De France, France, 75018|
|Principal Investigator:||Catherine Boileau, MD||Département de Génétique, Hôpital Bichat, France|