Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

Completed

• Conditions: Thoracic Aortic Aneurysm

• Registration Number: NCT02256163
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

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 Description

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 Timeline

• Study Start: 2011-06
• Study First Submitted: 2014-10-01
• Study First Submitted QC: 2014-10-01
• Study First Posted: 2014-10-03
• Primary Completion: 2016-12
• Study Completion: 2017-03
• Status Verified: 2017-11
• Last Update Submitted: 2017-11-17
• Last Update Posted: 2017-11-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 258

Inclusion Criteria

For all:

• Aged > 18 years.
• Written informed consent obtained.
• People with health insurance.

For individual:

• people ≥ 45 years, thoracic aortic aneurysm without syndrome,
• or people > 45 years with familial TAA.

For family:

• At least 2 members of family in 2 generations have TAA without syndrome and at least 2 patients of TAA will undergo blood collection.
• All people in family will undergo blood collection, each member should declare at first his (her) status (with or without TAA, unknown), the relationship (direct relative family or family in-law), no limit of age. For the children, only those with TAA will perform blood collection for the study.

Exclusion Criteria

• Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
• Arterial hypertension.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Impact of known mutations and research of new genes involved in non syndromic TAA	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.

Trial Locations

Locations (1)

Département de Génétique, Hôpital Bichat; 🇫🇷 Paris, Ile De France, France