Familial Aortopathies and Cellular Exploration (FACE)

Public Assistance-Hospitals of Marseille (AP-HM)

Status: Unknown

Conditions: Familial Aortopathies

Treatments: Biological: blood sample

Study type: Interventional

Funder types: Other

Identifiers

NCT05401500

RCAPHM22_0100

Details and patient eligibility

About

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..

Enrollment: 3 estimated patients

Sex: All

Ages: 18+ years old

Volunteers: No 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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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3 participants in 1 patient group

familial aortopathy

Experimental group

Treatment:

Biological: blood sample