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

Sponsor

Assistance Publique - Hôpitaux de Paris (Other)

Overall Status

Completed

CT.gov ID

NCT02256163

Collaborator

(none)

258

Enrollment

Location

Actual Duration (Months)

3.7

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Thoracic Aortic Aneurysm

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 Design

Study Type:

Observational

Actual Enrollment :

258 participants

Observational Model:

Family-Based

Time Perspective:

Prospective

Official Title:

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

Actual Study Start Date :

Jun 1, 2011

Actual Primary Completion Date :

Dec 1, 2016

Actual Study Completion Date :

Mar 1, 2017

Outcome Measures

Primary Outcome Measures

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.