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

• ClinicalTrials.gov Identifier: NCT02256163
• Recruitment Status: Completed
• First Posted: October 3, 2014
• Last Update Posted: November 20, 2017
• Sponsor: Assistance Publique - Hôpitaux de Paris
• 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.

• 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

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

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