Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)

Assistance Publique - Hôpitaux de Paris1 site in 1 country258 target enrollmentJune 2011

ConditionsThoracic Aortic Aneurysm

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: Thoracic Aortic Aneurysm
Sponsor: Assistance Publique - Hôpitaux de Paris
Enrollment: 258
Locations: 1
Primary Endpoint: Impact of known mutations and research of new genes involved in non syndromic TAA
Status: Completed
Last Updated: 8 years ago

Overview Investigators Eligibility Criteria Outcomes Sites Similar Trials

Overview

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.

Registry

clinicaltrials.gov

Start Date

June 2011

End Date

March 2017

Last Updated

8 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Assistance Publique - Hôpitaux de Paris

Responsible Party

Sponsor

Eligibility Criteria

Inclusion Criteria

•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.

Outcomes

Primary Outcomes

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.