Identification of Genes and Pathogenesis Involved in Fami... | NCT02256163

Studies
Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm

NCT02256163

Sponsor

Assistance Publique - Hôpitaux de Paris

Status

Completed

Last Update Posted

Nov 20, 2017Actual

Enrollment

258Actual

Phase

Not provided

Conditions

Thoracic Aortic Aneurysm

Interventions

Not provided

Countries

France

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
N° ID RCB: 2010-A01448-31	Other Identifier	ANSM
AOM10108	Other Identifier	AP-HP

Status Module

Record Verification Date

Nov 2017

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 2011Actual

Primary Completion Date

Dec 2016Actual

Completion Date

Mar 2017Actual

First Submitted Date

Oct 1, 2014

First Submission Date that Met QC Criteria

Oct 1, 2014

First Posted Date

Oct 3, 2014Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Nov 17, 2017

Last Update Posted Date

Nov 20, 2017Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

258Actual

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

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.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Catherine Boileau, MD	Département de Génétique, Hôpital Bichat, France	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Département de Génétique, Hôpital Bichat		Paris	Île-de-France Region	75018	France

ID	Term
D001014	Aortic Aneurysm
D000783	Aneurysm
D014652	Vascular Diseases
D002318	Cardiovascular Diseases