FACE: Familial Aortopathies and Cellular Exploration

Sponsor

Assistance Publique Hopitaux De Marseille (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT05401500

Collaborator

(none)

Enrollment

Location

Arm

Anticipated Duration (Months)

0.3

Patients Per Site Per Month

Study Details

Study Description

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..

Condition or Disease	Intervention/Treatment	Phase
Familial Aortopathies	Biological: blood sample	N/A

Study Design

Study Type:

Interventional

Anticipated Enrollment :

3 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Basic Science

Official Title:

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

Anticipated Study Start Date :

Jun 1, 2022

Anticipated Primary Completion Date :

Jul 1, 2022

Anticipated Study Completion Date :

Jun 1, 2023

Arms and Interventions

Arm	Intervention/Treatment
Experimental: familial aortopathy	Biological: blood sample blood sampling

Arm

Intervention/Treatment

Experimental: familial aortopathy

Biological: blood sample

blood sampling

Outcome Measures

Primary Outcome Measures

analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeleton [baseline]
use of a model of IPS cells reprogrammed into VSMCs from patients with ACTA2 mutations, compared to a healthy control

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

patient with a mutation in the ACTA2 gene

Exclusion Criteria:

patient under 18 years of age at the time of inclusion

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Assistance Publique Hopitaux de Marseille	Marseille		France	13005

Sponsors and Collaborators

Assistance Publique Hopitaux De Marseille

Investigators

Study Director: François Cremieux, Assistance Publique Hopitaux De Marseille

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

Responsible Party:

Assistance Publique Hopitaux De Marseille

ClinicalTrials.gov Identifier:

NCT05401500

Other Study ID Numbers:

RCAPHM22_0100

First Posted:

Jun 2, 2022

Last Update Posted:

Jun 2, 2022

Last Verified:

May 1, 2022

Individual Participant Data (IPD) Sharing Statement:

Plan to Share IPD:

Studies a U.S. FDA-regulated Drug Product:

Studies a U.S. FDA-regulated Device Product:

Study Results

No Results Posted as of Jun 2, 2022