Clinical Trial Details
— Status: Completed
Administrative data
| NCT number |
NCT04553172 |
| Other study ID # |
RECHMPL20_0471 |
| Secondary ID |
|
| Status |
Completed |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
March 1, 2016 |
| Est. completion date |
April 1, 2019 |
Study information
| Verified date |
September 2020 |
| Source |
University Hospital, Montpellier |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical 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. 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.
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.
