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Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients With Haemophilia A and B

NCT03287999 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 250

Last updated 2019-03-27

No results posted yet for this study

Summary

Severe haemophilia A and B (SHA, SHB) are X - linked inherited bleeding disorders, characterised by factor VIII and IX levels of \<1 IU/dL respectively. The mainstay of treatment in SHA and SHB is replacement therapy with intravenous infusions of factor VIII and IX. However, there is significant variability in the bleeding phenotype within severe haemophiliacs with some presenting with minimal bleeding episodes even on less intensive treatment regimens. A significant contributor to inter-individual variability in the bleeding phenotype is the coagulation phenotype, but there are no established assays in routine clinical practice that can be used to quantify this. This study aims to study novel assays and characterise the observed phenotypic heterogeneity.

Conditions

  • Haemophilia

Interventions

DIAGNOSTIC_TEST

Thrombophilia screen

Thrombophilia screen (including antithrombin activity (AT:Ac), protein S antigen (PS:free), protein C activity (PC:Ac) , genetic analysis for FV Leiden and Prothrombin 3'UTR mutations and screening for lupus anticoagulant.

DIAGNOSTIC_TEST

Initiation pathway analysis

Evaluation of inter-individual variability in regulation of TF.VIIa.Xa.TFPI complex (tissue factor, activated Factor VII, activated factor X, tissue factor pathway inhibitor)

Sponsors & Collaborators

  • Royal Free Hospital NHS Foundation Trust

    lead OTHER

Principal Investigators

  • Pratima Chowdary · Royal Free Hospitals NHS Foundation Trust

Eligibility

Min Age
18 Years
Sex
MALE
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-09-19
Primary Completion
2019-10-02
Completion
2020-10-02

Countries

  • United Kingdom

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 NCT03287999 on ClinicalTrials.gov