Vascular Abnormalities and Bleeding Diathesis

NCT ID: NCT04553172

Last Updated: 2021-03-09

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 5 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2016-03-01
• Study Completion Date: 2019-04-01

Brief 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.

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

Study Design

• Observational Model Type: FAMILY_BASED
• Study Time Perspective: OTHER

Study Groups

Affected family members

Affected family members

No interventions assigned to this group

Affected PM

Affected PM

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• members of the family

Exclusion Criteria

• patient who refused to participate

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 80 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Montpellier

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Muriel GIANSILY-BLAIZOT

Role: PRINCIPAL_INVESTIGATOR

UH Montpellier

Locations

UH Montpellier

Montpellier, , France

Countries

France

Other Identifiers

RECHMPL20_0471

Identifier Type: -

Identifier Source: org_study_id