Familial Aortopathies and Cellular Exploration

NCT ID: NCT05401500

Last Updated: 2022-06-02

Basic Information

• Recruitment Status: UNKNOWN
• Clinical Phase: NA
• Total Enrollment: 3 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-06-01
• Study Completion Date: 2023-06-01

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..

Conditions

Familial Aortopathies

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: BASIC_SCIENCE
• Blinding Strategy: NONE

Study Groups

familial aortopathy

Group Type: EXPERIMENTAL

blood sample

Intervention Type: BIOLOGICAL

blood sampling

Interventions

blood sample

blood sampling

Intervention Type: BIOLOGICAL

Eligibility Criteria

Inclusion Criteria

• patient with a mutation in the ACTA2 gene

Exclusion Criteria

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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Assistance Publique Hopitaux De Marseille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

François Cremieux

Role: STUDY_DIRECTOR

Assistance Publique Hopitaux De Marseille

Locations

Assistance Publique Hopitaux de Marseille

Marseille, , France

Countries

France

Central Contacts

Laurence Bal, MD

Role: CONTACT

laurence.bal@ap-hm.fr

Facility Contacts

Laurence Bal, MD

Role: primary

laurence.bal@ap-hm.fr

Other Identifiers

RCAPHM22_0100

Identifier Type: -

Identifier Source: org_study_id