- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05401500
Familial Aortopathies and Cellular Exploration (FACE)
June 1, 2022 updated by: Assistance Publique Hopitaux De Marseille
ACTA2 and Familial Aortopathies: Creation and Validation of an Exploratory Cellular Model
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..
Study Overview
Status
Not yet recruiting
Conditions
Intervention / Treatment
Study Type
Interventional
Enrollment (Anticipated)
3
Phase
- Not Applicable
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Laurence Bal, MD
- Email: laurence.bal@ap-hm.fr
Study Locations
-
-
-
Marseille, France, 13005
- Assistance Publique Hopitaux de Marseille
-
Contact:
- Laurence Bal, MD
- Email: laurence.bal@ap-hm.fr
-
-
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
18 years and older (Adult, Older Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Description
Inclusion Criteria:
- patient with a mutation in the ACTA2 gene
Exclusion Criteria:
- patient under 18 years of age at the time of inclusion
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Primary Purpose: Basic Science
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: familial aortopathy
|
blood sampling
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeleton
Time Frame: baseline
|
use of a model of IPS cells reprogrammed into VSMCs from patients with ACTA2 mutations, compared to a healthy control
|
baseline
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- Study Director: François CREMIEUX, Assistance Publique Hopitaux de Marseille
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Anticipated)
June 1, 2022
Primary Completion (Anticipated)
July 1, 2022
Study Completion (Anticipated)
June 1, 2023
Study Registration Dates
First Submitted
May 19, 2022
First Submitted That Met QC Criteria
June 1, 2022
First Posted (Actual)
June 2, 2022
Study Record Updates
Last Update Posted (Actual)
June 2, 2022
Last Update Submitted That Met QC Criteria
June 1, 2022
Last Verified
May 1, 2022
More Information
Terms related to this study
Other Study ID Numbers
- RCAPHM22_0100
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Familial Aortopathies
-
National Medical Research Center for Therapy and...Moscow State University of Medicine and DentistryRecruitingMedication Adherence | Adherence, Medication | Treatment Adherence | Familial Hypercholesterolemia | Motivational Interviewing | Adherence, Patient | Treatment Adherence and Compliance | Patient Compliance | Adherence | Hypercholesterolemia, Familial | Patient Adherence | Hypercholesterolemia, Autosomal Dominant and other conditionsRussian Federation
-
Alnylam PharmaceuticalsCompletedATTR Amyloidosis | Transthyretin (TTR)-Mediated Amyloidosis | Familial Amyloidotic Polyneuropathy (FAP) | Familial Amyloid NeuropathiesFrance, Germany, Portugal, United Kingdom, Sweden, Spain
-
Leiden University Medical CenterJacobijn Gussekloo, Prof. dr.; Simon P. Mooijaart, Prof. dr.RecruitingAging | Extreme Longevity | Longevity | Familial LongevityNetherlands
-
Boston UniversityNational Institute of Neurological Disorders and Stroke (NINDS); Food and Drug...CompletedFamilial Amyloid Polyneuropathy | Familial AmyloidosisUnited States, Italy, Japan, Sweden, United Kingdom
-
PfizerCompletedTransthyretin Familial Amyloid PolyneuropathyJapan
-
CENTOGENE GmbH RostockAlnylam PharmaceuticalsRecruitingCardiomyopathies | Polyneuropathies | Transthyretin Amyloidosis | Transthyretin-Related (ATTR) Familial Amyloid Cardiomyopathy | Transthyretin-Related (ATTR) Familial Amyloid PolyneuropathyGermany, Austria, Switzerland
-
Regeneron PharmaceuticalsSanofiTerminatedHeterozygous Familial Hypercholesterolemia | Non-familial HypercholesterolemiaUnited States, Bulgaria, Estonia, Russian Federation, South Africa, Ukraine
-
Merck Sharp & Dohme LLCTerminatedHypercholesterolemia, Familial | Heterozygous Familial Hypercholesterolemia
-
Institut Investigacio Sanitaria Pere VirgiliRecruitingFamilial Hypercholesterolemia | Familial Hypercholesterolemia - Homozygous | Familial Hypercholesterolemia - HeterozygousSpain
-
Novartis PharmaceuticalsActive, not recruitingFamilial Hypercholesterolemia - HomozygousGreece, Lebanon, Turkey, France, Canada, Malaysia, Netherlands, United States
Clinical Trials on blood sample
-
Medical University of WarsawCompletedArthroplasty | Platelet Aggregation | Methylmethacrylate EmbolismPoland
-
Memorial Sloan Kettering Cancer CenterActive, not recruiting
-
Meir Medical CenterCompleted
-
First Affiliated Hospital of Zhejiang UniversityRecruitingComplication | Hematologic Malignancy | Hematopoietic Stem Cell Transplantation | Chronic Graft-versus-host-diseaseChina
-
University Hospital, BordeauxMinistry for Health and Solidarity, FranceRecruitingImmune Thrombocytopenia | Autoimmune Hemolytic Anemia | Autoimmune NeutropeniaFrance
-
University Hospital, ToursCompletedMetastatic Prostate Cancer | Circulating Tumor DNAFrance
-
University Hospital, BordeauxActive, not recruitingSystemic Lupus Erythematosus | Systemic SclerodermaFrance
-
University Hospital, BordeauxCompletedRenal Function Disorder | Chronic Renal Diseases
-
University Hospital, ToursNot yet recruitingRenal Transplant | ConversionFrance