Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

258 participants

Study Classification

OBSERVATIONAL

Study Start Date

2011-06-30

Study Completion Date

2017-03-31

Brief Summary

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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

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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.

Conditions

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Thoracic Aortic Aneurysm

Keywords

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Thoracic Aortic Aneurysm (TAA) gene familial TAA blood collection

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Catherine Boileau, MD

Role: PRINCIPAL_INVESTIGATOR

Département de Génétique, Hôpital Bichat, France

Locations

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Département de Génétique, Hôpital Bichat

Paris, Île-de-France Region, France

Site Status

Countries

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France

Other Identifiers

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N° ID RCB: 2010-A01448-31

Identifier Type: OTHER

Identifier Source: secondary_id

AOM10108