Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

NCT02256163 | Completed

• 3 other identifiers: NI10023N° ID RCB: 2010-A01448-31AOM10108
• Study Type: observational
• Target: 258
• Locations: 1 country
• Sites: 1

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.

Conditions

Thoracic Aortic Aneurysm

Keywords

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

Outcome Measures

Primary Outcomes (1)

• 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

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
• Arterial hypertension.

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead

Study Sites (1)

Département de Génétique, Hôpital Bichat

Paris, Île-de-France Region, 75018, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample.

MeSH Terms

Conditions

Aortic Aneurysm, Thoracic

Condition Hierarchy (Ancestors)

Aortic Aneurysm; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Aortic Diseases

Study Officials

• Catherine Boileau, MD

  Département de Génétique, Hôpital Bichat, France

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 1, 2014
• First Posted: October 3, 2014
• Study Start: June 1, 2011
• Primary Completion: December 1, 2016
• Study Completion: March 1, 2017
• Last Updated: November 20, 2017

Record last verified: 2017-11

Locations

FR (1)