Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

Thoracic Aortic Aneurysm Clinical Trial

— TAA  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02256163
• Other study ID #: NI10023
• Secondary ID: N° ID RCB: 2010-
• Status: Completed
• Phase: N/A
• First received: October 1, 2014
• Last updated: November 17, 2017
• Start date: June 2011
• Est. completion date: March 2017

Study information

• Verified date: November 2017
• Source: Assistance Publique - Hôpitaux de Paris
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 258
• Est. completion date: March 2017
• Est. primary completion date: December 2016
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Aneurysm
• Aortic Aneurysm
• Aortic Aneurysm, Thoracic
• Thoracic Aortic Aneurysm

Locations

Country	Name	City	State
France	Département de Génétique, Hôpital Bichat	Paris	Ile De France

Sponsors (1)

Lead Sponsor	Collaborator
Assistance Publique - Hôpitaux de Paris

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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