Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02256163

Acronym

TAA

Enrollment

258

Registered

2014-10-03

Start date

2011-06-30

Completion date

2017-03-31

Last updated

2017-11-20

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Thoracic Aortic Aneurysm

Keywords

Thoracic Aortic Aneurysm (TAA), gene, familial TAA, blood collection

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

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.

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

France

Outcome results