Familial Aortopathies and Cellular Exploration (FACE)

ACTA2 and Familial Aortopathies: Creation and Validation of an Exploratory Cellular Model

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..

Study Overview

Status

Not yet recruiting

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

3

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  • patient with a mutation in the ACTA2 gene

Exclusion Criteria:

  • patient under 18 years of age at the time of inclusion

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: familial aortopathy
blood sampling

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeleton
Time Frame: baseline
use of a model of IPS cells reprogrammed into VSMCs from patients with ACTA2 mutations, compared to a healthy control
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Study Director: François CREMIEUX, Assistance Publique Hopitaux de Marseille

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Anticipated)

June 1, 2022

Primary Completion (Anticipated)

July 1, 2022

Study Completion (Anticipated)

June 1, 2023

Study Registration Dates

First Submitted

May 19, 2022

First Submitted That Met QC Criteria

June 1, 2022

First Posted (Actual)

June 2, 2022

Study Record Updates

Last Update Posted (Actual)

June 2, 2022

Last Update Submitted That Met QC Criteria

June 1, 2022

Last Verified

May 1, 2022

More Information

Terms related to this study

Other Study ID Numbers

  • RCAPHM22_0100

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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