Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

Assistance Publique - Hôpitaux de Paris258 enrolled

Overview

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.

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

Enrollment

258

Conditions

Thoracic Aortic Aneurysm

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

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.

Locations (1)

Département de Génétique, Hôpital Bichat

Paris, Île-de-France Region, France

Outcomes

Primary Outcomes

Impact of known mutations and research of new genes involved in non syndromic TAA

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.

Time frame: 1 year

Data from ClinicalTrials.gov

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