Familial AortopathiesFACENCT05401500
Familial Aortopathies and Cellular Exploration
A study testing blood sample in people with Familial Aortopathies, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Familial Aortopathies
- What is being tested?
- blood sample
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jun 2022to 1 Jun 2023
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- patient with a mutation in the ACTA2 gene
Who cannot join
- patient under 18 years of age at the time of inclusion
Trial locations and contacts
1 site in 1 country.
Laurence Bal, MD contact
France1 site
Assistance Publique Hopitaux de Marseille
Marseille, 13005
Laurence Bal, MD, laurence.bal@ap-hm.fr
About this study
Official title: 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..
- Conditions
- Familial Aortopathies
- Being tested
- blood sample
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood sampleBiological
blood sampling
| Study group | Role | What they receive |
|---|---|---|
| familial aortopathy | Experimental | Not described Receives: Biological: blood sample |
What is being measured
The primary outcome is the main question the study is designed to answer.
analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeleton
use of a model of IPS cells reprogrammed into VSMCs from patients with ACTA2 mutations, compared to a healthy control
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2022
- Study start1 Jun 2022 (estimated)
- Primary completion1 Jul 2022 (estimated)
- Study completion1 Jun 2023 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial AortopathiesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique Hopitaux De Marseille
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- François Cremieux, Study director, Assistance Publique Hopitaux De Marseille
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05401500
- Sponsor's protocol ID
- RCAPHM22_0100
- Acronym
- FACE
- Status last verified
- May 2022
- First submitted
- 19 May 2022
- Last updated
- 2 Jun 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jun 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- ACTA2 and Familial Aortopathies: Creation and Validation of an Exploratory Cellular Model
- ClinicalTrials.gov ID
- NCT05401500
- Acronym / sponsor ID
- FACE / RCAPHM22_0100
- Conditions
- Familial Aortopathies
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 3 participants (estimated)
- Lead sponsor
- Assistance Publique Hopitaux De MarseilleUniversity, hospital or other
- Study start
- 1 Jun 2022 (estimated)
- Primary completion
- 1 Jul 2022 (estimated)
- Study completion
- 1 Jun 2023 (estimated)
- First posted
- 2 Jun 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| familial aortopathy | Experimental | Biological: blood sample |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (1 listed)
- patient with a mutation in the ACTA2 gene
Key exclusion criteria (1 listed)
- patient under 18 years of age at the time of inclusion
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood sampleblood sampling | Biological | familial aortopathy |
Primary outcome
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
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jun 2022.
- Individual participant dataSharing planned: No
Related trials for Familial Aortopathies
Active, not recruitingObservational study
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Aortopathies, Thoracic Aortic Aneurysm
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Laurence Bal, MD contact
François Cremieux study director
Assistance Publique Hopitaux De Marseille
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood sample in people with Familial Aortopathies, run by Assistance Publique Hopitaux De Marseille at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 2 Jun 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Laurence Bal, MD (laurence.bal@ap-hm.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
analysis of the impact of ACTA2 mutations on the morphology of the actin cytoskeleton (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jun 2022.