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Trial record 2 of 20 for:    ACTA2

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

Tracking Information
First Submitted Date October 1, 2014
First Posted Date October 3, 2014
Last Update Posted Date November 20, 2017
Actual Study Start Date June 2011
Actual Primary Completion Date December 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: October 10, 2014)
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.
Original Primary Outcome Measures
 (submitted: October 1, 2014)
Impact of known mutations and research of new genes involved in non sydromic 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.
Change History Complete list of historical versions of study NCT02256163 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm
Official Title Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
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.
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
Study Design Observational Model: Family-Based
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Blood sample.
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.
Condition Thoracic Aortic Aneurysm
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: November 17, 2017)
258
Original Estimated Enrollment
 (submitted: October 1, 2014)
275
Actual Study Completion Date March 2017
Actual Primary Completion Date December 2016   (Final data collection date for primary outcome measure)
Eligibility 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.
Sex/Gender
Sexes Eligible for Study: All
Ages 18 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France
Removed Location Countries  
 
Administrative Information
NCT Number NCT02256163
Other Study ID Numbers NI10023
N° ID RCB: 2010-A01448-31 ( Other Identifier: ANSM )
AOM10108 ( Other Identifier: AP-HP )
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Assistance Publique - Hôpitaux de Paris
Study Sponsor Assistance Publique - Hôpitaux de Paris
Collaborators Not Provided
Investigators
Principal Investigator: Catherine Boileau, MD Département de Génétique, Hôpital Bichat, France
PRS Account Assistance Publique - Hôpitaux de Paris
Verification Date November 2017