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Familial Aortopathies and Cellular Exploration

Not Applicable
Conditions
Familial Aortopathies
Registration Number
NCT05401500
Lead Sponsor
Assistance Publique Hopitaux De Marseille
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..

Detailed Description

Not available

Recruitment & Eligibility

Status
UNKNOWN
Sex
All
Target Recruitment
3
Inclusion Criteria
  • patient with a mutation in the ACTA2 gene
Exclusion Criteria
  • patient under 18 years of age at the time of inclusion

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Primary Outcome Measures
NameTimeMethod
analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeletonbaseline

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

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Assistance Publique Hopitaux de Marseille

🇫🇷

Marseille, France

Assistance Publique Hopitaux de Marseille
🇫🇷Marseille, France
Laurence Bal, MD
Contact
laurence.bal@ap-hm.fr

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