Ignite Creation Date:
2024-05-06 @ 3:13 PM
Last Modification Date:
2024-10-26 @ 1:45 PM
Study NCT ID:
NCT04553172
Status:
COMPLETED
Last Update Posted:
2021-03-09
First Post:
2020-09-02
Brief Title:
Vascular Abnormalities and Bleeding Diathesis
Sponsor:
University Hospital Montpellier
Organization:
University Hospital Montpellier
Study Overview
Official Title:
Endothelial Dysfunction Leads to Bleeding Diathesis
Status:
COMPLETED
Status Verified Date:
2020-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
Inherited bleeding disorders IBD consist of a heterogeneous group of diseases including coagulation andor 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 110 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
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 110 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None