NCT05401500

Familial Aortopathies and Cellular Exploration

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

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 3 (estimated)
• Sponsor: Assistance Publique Hopitaux De Marseille · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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..

Conditions

• Familial Aortopathies

Interventions

Type	Name	Description
BIOLOGICAL	blood sample	blood sampling

Timeline

• Start date: 2022-06-01
• Primary completion: 2022-07-01
• Completion: 2023-06-01
• First posted: 2022-06-02
• Last updated: 2022-06-02

Locations

1 site across 1 country: France