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Vascular Abnormalities and Bleeding Diathesis

NCT04553172 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 5

Last updated 2021-03-09

No results posted yet for this study

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.

Conditions

  • Bleeding Diathesis

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Muriel GIANSILY-BLAIZOT · UH Montpellier

Eligibility

Min Age
18 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-03-01
Primary Completion
2017-11-01
Completion
2019-04-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04553172 on ClinicalTrials.gov