NCT05401500

Brief Summary

The prevalence of hereditary aortic disease (HTAD), responsible for aneurysm or dissection, is estimated at 25%. Mutations in the ACTA2 gene represent the main cause of non-syndromic forms (10-21%). ACTA2 is expressed in vascular wall smooth muscle cells (VSMC) and encodes alpha actin (α-SMA). This actin isoform is in the majority in VSMCs and plays a key role in their contractile properties. The mutations are dominant-negative and lead, in a fibroblast model, to defects in the organisation of the actin cytoskeleton and to an increase in the migratory and proliferative potential of the cells. In vivo, VSCMs exist in a phenotypic continuum ranging from a quiescent differentiated contractile state to a so-called synthetic state in which cells are proliferative, synthesise extracellular matrix elements and exhibit enhanced migratory capabilities. To understand how ACTA2 mutations deregulate VSMC functions and steer them towards a synthetic phenotype, it is necessary to have a cellular model as close as possible to the affected tissue..

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
3

participants targeted

Target at below P25 for not_applicable

Timeline
Completed

Started Jun 2022

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

May 19, 2022

Completed
13 days until next milestone

Study Start

First participant enrolled

June 1, 2022

Completed
1 day until next milestone

First Posted

Study publicly available on registry

June 2, 2022

Completed
29 days until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2022

Completed
11 months until next milestone

Study Completion

Last participant's last visit for all outcomes

June 1, 2023

Completed
Last Updated

June 2, 2022

Status Verified

May 1, 2022

Enrollment Period

1 month

First QC Date

May 19, 2022

Last Update Submit

June 1, 2022

Conditions

Familial Aortopathies

Outcome Measures

Primary Outcomes (1)

  • analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeleton

    use of a model of IPS cells reprogrammed into VSMCs from patients with ACTA2 mutations, compared to a healthy control

    baseline

Study Arms (1)

familial aortopathy

EXPERIMENTAL
Biological: blood sample

Interventions

blood sampleBIOLOGICAL

blood sampling

familial aortopathy

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)

You may qualify if:

  • patient with a mutation in the ACTA2 gene

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Assistance Publique Hopitaux de Marseille

Marseille, 13005, France

Location

MeSH Terms

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen HandlingClinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisPuncturesSurgical Procedures, OperativeInvestigative Techniques

Study Officials

  • François Cremieux

    Assistance Publique Hopitaux De Marseille

    STUDY DIRECTOR

Central Study Contacts

Laurence Bal, MD

CONTACT

laurence.bal@ap-hm.fr

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
BASIC SCIENCE
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 19, 2022

First Posted

June 2, 2022

Study Start

June 1, 2022

Primary Completion

July 1, 2022

Study Completion

June 1, 2023

Last Updated

June 2, 2022

Record last verified: 2022-05

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)