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Completed

NCT Number: NCT02256163

Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

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.

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Key information

Conditions

Thoracic Aortic Aneurysm Aneurysm Aortic Aneurysm Aortic Aneurysm, Thoracic Aortic Diseases Cardiovascular Diseases Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Département de Génétique, Hôpital Bichat

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

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Impact of known mutations and research of new genes involved in non syndromic TAA

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Registry information

Official study title

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

Acronym: TAA

Important dates

Study start
2011
Primary completion
2016
Study completion
2017
First posted
Oct 3, 2014
Registry last updated
Nov 20, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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