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

Assistance Publique - Hôpitaux de Paris

Status: Completed

Conditions: Thoracic Aortic Aneurysm

Study type: Observational

Funder types: Other

Identifiers

NCT02256163

N° ID RCB: 2010-A01448-31 (Other Identifier)

NI10023

AOM10108 (Other Identifier)

Details and patient eligibility

About

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.

Full 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.

Enrollment: 258 patients

Sex: All

Ages: 18+ years old

Volunteers: No 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.