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

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

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.

Study Overview

• Status: Completed
• Conditions: 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 Type: Observational
• Enrollment (Actual): 258

Contacts and Locations

Study Locations

• France
  • Ile De France
    • Paris, Ile De France, France, 75018
      • Département de Génétique, Hôpital Bichat

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Enrollement of individuals and families followed in the reference centers and the competence centers,

• search for mutations in one of known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.
• search for new genes in families and individuals with TAA who without mutation in one of the known genes.

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Family-Based
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	1 year

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Investigators: Principal Investigator: Catherine Boileau, MD, Département de Génétique, Hôpital Bichat, France

Study record dates

Study Major Dates

• Study Start (Actual): June 1, 2011
• Primary Completion (Actual): December 1, 2016
• Study Completion (Actual): March 1, 2017

Study Registration Dates

• First Submitted: October 1, 2014
• First Submitted That Met QC Criteria: October 1, 2014
• First Posted (Estimate): October 3, 2014

Study Record Updates

• Last Update Posted (Actual): November 20, 2017
• Last Update Submitted That Met QC Criteria: November 17, 2017
• Last Verified: November 1, 2017

More Information

Terms related to this study

• Keywords: gene; blood collection; Thoracic Aortic Aneurysm (TAA); familial TAA
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Aortic Diseases; Aneurysm; Aortic Aneurysm; Aortic Aneurysm, Thoracic
• Other Study ID Numbers: NI10023; N° ID RCB: 2010-A01448-31 (Other Identifier: ANSM); AOM10108 (Other Identifier: AP-HP)