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Trial record 4 of 101 for:    "thoracic aortic aneurysms and aortic dissections" OR "Aortic Aneurysm, Thoracic"

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

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ClinicalTrials.gov Identifier: NCT02256163
Recruitment Status : Completed
First Posted : October 3, 2014
Last Update Posted : November 20, 2017
Sponsor:
Information provided by (Responsible Party):
Assistance Publique - Hôpitaux de Paris

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.

Condition or disease
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
Actual Enrollment : 258 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
Actual Study Start Date : June 2011
Actual Primary Completion Date : December 2016
Actual Study Completion Date : March 2017





Primary Outcome Measures :
  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.



Biospecimen Retention:   Samples With DNA
Blood sample.


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02256163


Locations
France
Département de Génétique, Hôpital Bichat
Paris, Ile De France, France, 75018
Sponsors and Collaborators
Assistance Publique - Hôpitaux de Paris
Investigators
Principal Investigator: Catherine Boileau, MD Département de Génétique, Hôpital Bichat, France

Responsible Party: Assistance Publique - Hôpitaux de Paris
ClinicalTrials.gov Identifier: NCT02256163     History of Changes
Other Study ID Numbers: NI10023
N° ID RCB: 2010-A01448-31 ( Other Identifier: ANSM )
AOM10108 ( Other Identifier: AP-HP )
First Posted: October 3, 2014    Key Record Dates
Last Update Posted: November 20, 2017
Last Verified: November 2017

Keywords provided by Assistance Publique - Hôpitaux de Paris:
Thoracic Aortic Aneurysm (TAA)
gene
familial TAA
blood collection

Additional relevant MeSH terms:
Aneurysm
Aortic Aneurysm
Aortic Aneurysm, Thoracic
Vascular Diseases
Cardiovascular Diseases
Aortic Diseases