Hereditary DysfibrinogenemiaGENDYSFIBNCT05233384
Genomics of Fibrin Clot Structure in Patients With Constitutional Dysfibrinogenemia
An observational study of Hereditary Dysfibrinogenemia, run by University Hospital, Clermont-Ferrand at 7 sites in France.
Trial summary
Hereditary dysfibrinogenemia results from monoallelic mutation in one of the fibrinogen genes (FGA, FGB, FGG). The spectrum of molecular abnormalities is broad, leading to several subtypes of coagulation disorders with specific biological and clinical features. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Dysfibrinogenemia
- What is being tested?
- Blood test
- How many people
- 70 participants
- Where
- 7 sitesFrance
- Study dates
- 28 Jul 2022to 2 Dec 2024
- Phase
- Observational
- 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
Study population: Patient with confirmed hereditary dysfibrinogenemia
Who may be able to join
- Patient with confirmed hereditary dysfibrinogenemia
- Able to give his/her informed consent to participate
- Affiliated to the French Health insurance
Who cannot join
- Refusal to participate
- pregnant and breastfeeding women,
- protected adults (individuals under guardianship by court order),
- adults deprived of their liberty
Trial locations and contacts
7 sites in 1 country.
7 sites in 1 country
France7 sites
CHU clermont-ferrand
Clermont-Ferrand
CHU Dijon
Dijon
CHU de Lille
Lille
CHU Montpellier
Montpellier
CHu Nancy
Nancy
CHU Nantes
Nantes
CHU Tours
Tours
About this study
Hereditary dysfibrinogenemia results from monoallelic mutation in one of the fibrinogen genes (FGA, FGB, FGG). The spectrum of molecular abnormalities is broad, leading to several subtypes of coagulation disorders with specific biological and clinical features. The correlation between the genotype and the phenotype is poor, and the clinical course of patients, from major bleeding to recurrent thromboses, is unpredictable. Fibrin clot structure is a determinant of the risk of thrombosis in cardiovascular diseases. In all individuals, fibrin networks define the propensity of clot to be more resistant to removal or, on the contrary, susceptible to fragmentation leading to bleeding complications. Besides fibrinogen variants, other relatively common genetic polymorphisms in coagulation and fibrinolytic pathways may affect the fibrin clot structure and therefore act as modifiers of the blood clot function.
In this proposal, the investigators will analyze properties (polymerization, fibrinolysis, viscoelastic properties, permeation) and ultrastructure (size, number, packaging, architecture of fibrin fiber by confocal microscopy and scanning electron microscopy) of plasma-based clots in relation to the presence of genetic modifiers (polymorphisms). Polymorphisms will be detected using a whole exome sequencing (WES) in a selected panel of genes of the coagulation and fibrinolytic pathways. The gene panel of 28 genes will include the three fibrinogen genes plus 25 potential modifier genes including F5, F2, PAI-1, PROCR and MTHFR. The overall clot phenotype will be correlated to the presence of prothrombotic polymorphisms and to the patient's clinical phenotype. The investigators plan to include about 100 patients with dysfibrinogenemia. The combination of integrative hemostasis models with genetic dataset will provide a global view of the patient's individual hemostatic profile. This may allow to better predict the clinical outcome and help provide a more personalized therapeutic strategy and precision medicine. In addition, the development of models allowing a reliable global assessment of fibrin clot architecture will be the basis for further research in other acquired diseases involving thrombotic or bleeding events.
- Conditions
- Hereditary Dysfibrinogenemia
- Being tested
- Blood test
- Keywords
- Hereditary Dysfibrinogenemia, Fibrin clot, Polymorphism
- Medical subject headings
- Dysfibrinogenemia, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood testBiological
For each patient included, this study will involve the collection of 20 ml of blood during a blood test carried out as part of routine care. One EDTA tube (4,5 ml) will be withdrawn and frozen for genetic testing. 15 ml of citrated blood sample (3 to 5 tubes, depending on the used tubes) are necessary for the study of fibrin clot structure. Citrated tubes will be double centrifugated and frozen (-80°C) according to "Groupe Français d'Études sur l'Hémostase et la thrombose" guidelines (centrifugation protocol: 1500 to 2000g at least 15min, or 2000 to 2500g at least 10min with an intermediate decantation).
| Study group | Role | What they receive |
|---|---|---|
| Patients with hereditary dysfibrinogenemia | Patient, male or female, aged over 18, with confirmed hereditary dysfibrinogenemia Receives: Biological: Blood test |
What is being measured
The primary outcome is the main question the study is designed to answer.
relation between the genetic polymorphisms and the main parameters of each different tools evaluating the ultrastructure of fibrin clot
High quality genomic DNA will be purified using standard procedures and quantified using the Thermo Fisher Qubit fluorometric quantification. Whole exome sequencing will be performed at the Health 2030 Genome Center, Campus Biotech, Geneva using IDT Research Exome Reagents, multiplexing 12 samples during library preparation, for a mean coverage of 70x
Measured: at the end of the inclusion period
Secondary outcomes (2)
relation between the genetic polymorphisms and the clinical phenotype of patients with dysfibrinogenemia (thrombotic and/or bleeding phenotype)
Measured: at the end of the inclusion period
relation between the main parameters of ultrastructure of fibrin clot properties and the clinical phenotype of patients with dysfibrinogenemia
Measured: at the end of the inclusion period
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2022
- Study start28 Jul 2022
- Primary completion15 May 2024
- Study completion2 Dec 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary DysfibrinogenemiaStudies of the same condition, open and under way.
- More trials run by University Hospital, Clermont-FerrandThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 70 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Clermont-Ferrand
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Aurélien LEBRETON, Principal investigator, University Hospital, Clermont-Ferrand
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05233384
- Sponsor's protocol ID
- RNI 2021 LEBRETON
- Other IDs
- 2021-A00745-36
- Acronym
- GENDYSFIB
- Status last verified
- May 2026
- First submitted
- 6 Jan 2022
- Last updated
- 28 May 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genomics of Fibrin Clot Structure in Patients With Constitutional Dysfibrinogenemia
- ClinicalTrials.gov ID
- NCT05233384
- Acronym / sponsor ID
- GENDYSFIB / RNI 2021 LEBRETON
- Conditions
- Hereditary Dysfibrinogenemia
- Keywords
- Hereditary Dysfibrinogenemia, Fibrin clot, Polymorphism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 70 participants (actual)
- Lead sponsor
- University Hospital, Clermont-FerrandUniversity, hospital or other
- Study start
- 28 Jul 2022 (actual)
- Primary completion
- 15 May 2024 (actual)
- Study completion
- 2 Dec 2024 (actual)
- First posted
- 10 Feb 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.
Hereditary dysfibrinogenemia results from monoallelic mutation in one of the fibrinogen genes (FGA, FGB, FGG). The spectrum of molecular abnormalities is broad, leading to several subtypes of coagulation disorders with specific biological and clinical features. The correlation between the genotype and the phenotype is poor, and the clinical course of patients, from major bleeding to recurrent thromboses, is unpredictable. Fibrin clot structure is a determinant of the risk of thrombosis in cardiovascular diseases. In all individuals, fibrin networks define the propensity of clot to be more resistant to removal or, on the contrary, susceptible to fragmentation leading to bleeding complications. Besides fibrinogen variants, other relatively common genetic polymorphisms in coagulation and fibrinolytic pathways may affect the fibrin clot structure and therefore act as modifiers of the blood clot function.
In this proposal, the investigators will analyze properties (polymerization, fibrinolysis, viscoelastic properties, permeation) and ultrastructure (size, number, packaging, architecture of fibrin fiber by confocal microscopy and scanning electron microscopy) of plasma-based clots in relation to the presence of genetic modifiers (polymorphisms). Polymorphisms will be detected using a whole exome sequencing (WES) in a selected panel of genes of the coagulation and fibrinolytic pathways. The gene panel of 28 genes will include the three fibrinogen genes plus 25 potential modifier genes including F5, F2, PAI-1, PROCR and MTHFR. The overall clot phenotype will be correlated to the presence of prothrombotic polymorphisms and to the patient's clinical phenotype. The investigators plan to include about 100 patients with dysfibrinogenemia. The combination of integrative hemostasis models with genetic dataset will provide a global view of the patient's individual hemostatic profile. This may allow to better predict the clinical outcome and help provide a more personalized therapeutic strategy and precision medicine. In addition, the development of models allowing a reliable global assessment of fibrin clot architecture will be the basis for further research in other acquired diseases involving thrombotic or bleeding events.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with hereditary dysfibrinogenemia | – | Biological: Blood testPatient, male or female, aged over 18, with confirmed hereditary dysfibrinogenemia |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patient with confirmed hereditary dysfibrinogenemia
Key inclusion criteria (3 listed)
- Patient with confirmed hereditary dysfibrinogenemia
- Able to give his/her informed consent to participate
- Affiliated to the French Health insurance
Key exclusion criteria (4 listed)
- Refusal to participate
- pregnant and breastfeeding women,
- protected adults (individuals under guardianship by court order),
- adults deprived of their liberty
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 testFor each patient included, this study will involve the collection of 20 ml of blood during a blood test carried out as part of routine care. One EDTA tube (4,5 ml) will be withdrawn and frozen for genetic testing. 15 ml of citrated blood sample (3 to 5 tubes, depending on the used tubes) are necessary for the study of fibrin clot structure. Citrated tubes will be double centrifugated and frozen (-80°C) according to "Groupe Français d'Études sur l'Hémostase et la thrombose" guidelines (centrifugation protocol: 1500 to 2000g at least 15min, or 2000 to 2500g at least 10min with an intermediate decantation). | Biological | Patients with hereditary dysfibrinogenemia |
Primary outcome
relation between the genetic polymorphisms and the main parameters of each different tools evaluating the ultrastructure of fibrin clot
Time frame: at the end of the inclusion period
High quality genomic DNA will be purified using standard procedures and quantified using the Thermo Fisher Qubit fluorometric quantification. Whole exome sequencing will be performed at the Health 2030 Genome Center, Campus Biotech, Geneva using IDT Research Exome Reagents, multiplexing 12 samples during library preparation, for a mean coverage of 70x
2 secondary outcomes
relation between the genetic polymorphisms and the clinical phenotype of patients with dysfibrinogenemia (thrombotic and/or bleeding phenotype)
Time frame: at the end of the inclusion period
relation between the main parameters of ultrastructure of fibrin clot properties and the clinical phenotype of patients with dysfibrinogenemia
Time frame: at the end of the inclusion period
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 28 May 2026.
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.
Aurélien LEBRETON principal investigator
University Hospital, Clermont-Ferrand
7 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Dysfibrinogenemia, run by University Hospital, Clermont-Ferrand at 7 sites 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 3 inclusion and 4 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: finished, as of the sponsor's last update on 28 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 sites 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
relation between the genetic polymorphisms and the main parameters of each different tools evaluating the ultrastructure of fibrin clot (time frame: at the end of the inclusion period). 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 28 May 2026.