InPath
Research type
Research Study
Full title
Inter Individual Variability in Initiation Pathway Activation and Regulation and Phenotypic Heterogeneity in Patients with Haemophilia A and B
IRAS ID
234075
Contact name
Pratima Chowdary
Contact email
Sponsor organisation
Royal Free London NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Haemophilia A and B (HA & HB) are inherited bleeding disorders where low levels of clotting factor VIII (HA) or factor IX (HB) result in an inability to form blood clots. Severe haemophilia patients (SHA and SHB respectively) have levels of factor in their blood of below <1 IU/dl, equivalent to 1% of the normal level. The mainstay of treatment in SHA and SHB is to provide replacement therapy with intravenous infusions of factor VIII and IX in order to maintain a factor level in the blood high enough to allow the patient to form blood clots.\n\nHowever, there is significant variability in the clinical presentation, or phenotype, within severe haemophiliacs. Some present with minimal bleeding episodes on low intensity treatment whereas others require intensive treatment to prevent damaging bleeding episodes. This inter-patient variability is present with patients with the same genetic mutation causing their disease and similar latent levels of factor VIII/IX. \n\nA contributor to this variability in clinical phenotype in the manner in which each patients produce clots, known as the coagulation phenotype, but there are currently no established testing assays in routine clinical practice that can be used to quantify the coagulation phenotype. This study aims to study novel testing assays and provide insight into the observed variation in clinical presentation of patients with severe haemophilia.
REC name
London - Bloomsbury Research Ethics Committee
REC reference
17/LO/1525
Date of REC Opinion
13 Sep 2017
REC opinion
Favourable Opinion