Bleeding DiathesisNCT04553172
Vascular Abnormalities and Bleeding Diathesis
An observational study of Bleeding Diathesis, run by University Hospital, Montpellier at 1 site in France.
Trial summary
Inherited bleeding disorders (IBD) consist of a heterogeneous group of diseases including coagulation and/or platelets defects and more rarely vascular dysfunctions. A family of four patients suffering from unexplained excessive bleeding has been followed clinically in France for many years. Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Bleeding Diathesis
- How many people
- 5 participants
- Where
- 1 siteFrance
- Study dates
- 1 Mar 2016to 1 Apr 2019
- 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 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: A specific Family
Who may be able to join
- members of the family
Who cannot join
- patient who refused to participate
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Endothelial Dysfunction Leads to Bleeding Diathesis
Inherited bleeding disorders (IBD) consist of a heterogeneous group of diseases including coagulation and/or platelets defects and more rarely vascular dysfunctions. A family of four patients suffering from unexplained excessive bleeding has been followed clinically in France for many years. Recently, whole exome sequencing (WES) of DNA allowed the identification of a heterozygous genetic variant which segregated to family members with bleeding diathesis. The aim of the study was to better characterize the phenotype by studying VWF and platelets in affected family members ultimately contributing to the pathogenesis of a bleeding diathesis.
Read the detailed description
As explained in the brief summary, whole exome sequencing (WES) of DNA was performed in a family of four patients suffering from unexplained excessive bleeding. It allowed the identification of a variant which segregated to family members with bleeding diathesis. Firstly, in vitro, functional analyses were performed in primary human endothelial cells. Then, in-vivo analysis have to be performed on affected patients.
The four related patients suffering from excessive bleeding have been followed clinically in France for many years. During the follow-up of three of these affected patients, biological studies are planned.
Biological assays include:
- Conventional assessment of primary haemostasis: platelet count, platelet aggregation, functional and antigen measurement of von Willebrand factor.
- Specific testing: Von Willebrand factor multimeric profile, immunolabeling of platelets.
Conventional assessment is part of the conventional follow-up of patients with inherited bleeding disorder. It will not require any additional blood sample. For specific testing and after informed consent, fresh blood samples of patients will be collected in 1/10 volume of acid-citrate-dextrose and centrifuged for 10 min at 200 g to obtain Platelet-rich plasma (PRP) for functional analysis of platelets and Platelet-poor plasma for the multimerization state of von Willebrand factor. Then, the results will be compared to the in-vitro findings.
- Conditions
- Bleeding Diathesis
- Keywords
- mucocutaneous bleeding, surgery bleeding outcomes
- Medical subject headings
- Hemostatic Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Affected family members | Affected family members | |
| Affected PM | Affected PM |
What is being measured
The primary outcome is the main question the study is designed to answer.
platelet count
automatic count of platelet
Measured: 1 day
platelet aggregation
automated assay using adenosine diphosphate (ADP), arachidonic acid (AA) agonists
Measured: 1 day
VWF (von Willebrand factor)
activity/antigen levels measurements
Measured: 1 day
Secondary outcomes (2)
VWF mutimerization status
multimer distribution
Measured: 1 day
immunostaining of platelets
fixed platelet studies coverslips are challenged with a panel of primary antibodies for immunofluorescence staining
Measured: 2 to 3 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Sep 2020
- Study start1 Mar 2016
- Primary completion1 Nov 2017
- Study completion1 Apr 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Bleeding DiathesisStudies of the same condition, open and under way.
- More trials run by University Hospital, MontpellierThe 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
- Family based
- Time perspective
- Other
- Enrolment
- 5 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Montpellier
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Muriel GIANSILY-BLAIZOT, Principal investigator, UH Montpellier
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04553172
- Sponsor's protocol ID
- RECHMPL20_0471
- Status last verified
- Sep 2020
- First submitted
- 2 Sep 2020
- Last updated
- 9 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: NC
Study at a glance
From the registry record, last updated by the sponsor on 9 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Endothelial Dysfunction Leads to Bleeding Diathesis
- ClinicalTrials.gov ID
- NCT04553172
- Acronym / sponsor ID
- RECHMPL20_0471
- Conditions
- Bleeding Diathesis
- Keywords
- mucocutaneous bleeding, surgery bleeding outcomes
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 5 participants (actual)
- Lead sponsor
- University Hospital, MontpellierUniversity, hospital or other
- Study start
- 1 Mar 2016 (actual)
- Primary completion
- 1 Nov 2017 (actual)
- Study completion
- 1 Apr 2019 (actual)
- First posted
- 17 Sep 2020 (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.
Inherited bleeding disorders (IBD) consist of a heterogeneous group of diseases including coagulation and/or platelets defects and more rarely vascular dysfunctions. A family of four patients suffering from unexplained excessive bleeding has been followed clinically in France for many years. Recently, whole exome sequencing (WES) of DNA allowed the identification of a heterozygous genetic variant which segregated to family members with bleeding diathesis. The aim of the study was to better characterize the phenotype by studying VWF and platelets in affected family members ultimately contributing to the pathogenesis of a bleeding diathesis.
Detailed description
As explained in the brief summary, whole exome sequencing (WES) of DNA was performed in a family of four patients suffering from unexplained excessive bleeding. It allowed the identification of a variant which segregated to family members with bleeding diathesis. Firstly, in vitro, functional analyses were performed in primary human endothelial cells. Then, in-vivo analysis have to be performed on affected patients.
The four related patients suffering from excessive bleeding have been followed clinically in France for many years. During the follow-up of three of these affected patients, biological studies are planned.
Biological assays include:
- Conventional assessment of primary haemostasis: platelet count, platelet aggregation, functional and antigen measurement of von Willebrand factor.
- Specific testing: Von Willebrand factor multimeric profile, immunolabeling of platelets.
Conventional assessment is part of the conventional follow-up of patients with inherited bleeding disorder. It will not require any additional blood sample. For specific testing and after informed consent, fresh blood samples of patients will be collected in 1/10 volume of acid-citrate-dextrose and centrifuged for 10 min at 200 g to obtain Platelet-rich plasma (PRP) for functional analysis of platelets and Platelet-poor plasma for the multimerization state of von Willebrand factor. Then, the results will be compared to the in-vitro findings.
Study design
- Observational model
- Family based
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected family members | – | –Affected family members |
| Affected PM | – | –Affected PM |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- A specific Family
Key inclusion criteria (1 listed)
- members of the family
Key exclusion criteria (1 listed)
- patient who refused to participate
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
platelet count
Time frame: 1 day
automatic count of platelet
platelet aggregation
Time frame: 1 day
automated assay using adenosine diphosphate (ADP), arachidonic acid (AA) agonists
VWF (von Willebrand factor)
Time frame: 1 day
activity/antigen levels measurements
2 secondary outcomes
VWF mutimerization status
Time frame: 1 day
immunostaining of platelets
Time frame: 2 to 3 days
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 9 Mar 2021.
- Individual participant dataSharing planned: Undecided. NC
Related trials for Bleeding Diathesis
RecruitingPhase 1/2
A Study of Pirtobrutinib in Participants With Immune Thrombocytopenia
Immune Thrombocytopenia (ITP)
Not yet recruiting
Safety of Intraosseous Anaesthesia in Children With Haemophilia
Haemophilia A, Haemophilia B
RecruitingPhase 3
A Study of Mezagitamab in Adults With Chronic Primary Immune Thrombocytopenia
Immune Thrombocytopenic Purpura (ITP)
Active, not recruitingPhase 3
A Study to Evaluate the Efficacy and Safety of Factor IX Gene Therapy With PF-06838435 in Adult Males With Moderately Severe to Severe Hemophilia B
Hemophilia B
RecruitingObservational study
Early Detection and Kinetics of Sepsis-Induced Coagulopathy in Severe Burn Patients
Sepsis, Sepsis-induced Coagulopathy
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.
Muriel GIANSILY-BLAIZOT principal investigator
UH Montpellier
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Bleeding Diathesis, run by University Hospital, Montpellier 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: finished, as of the sponsor's last update on 9 Mar 2021. 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?
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?
platelet count (time frame: 1 day). The study lists 3 primary outcomes in all. 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 9 Mar 2021.