The Dynamic Interplay Between Bleeding Phenotype and Baseline Factor Level in Moderate and Mild Hemophilia A and B

Summary

There are large inter-individual differences in the bleeding pattern of patients with moderate or mild hemophilia. The major determinant of bleeding phenotype is the level of coagulant factor VIII or IX. In hemophilia A, studies addressing the association between factor VIII level and the clinical bleeding pattern yield conflicting results. In hemophilia B such studies have not yet been performed.

The primary aim of this project is to analyze the association between factor VIII and factor IX levels and the bleeding phenotype. The secondary aim is to analyze potential differences in phenotype between hemophilia A and B.

The project is a multicentre observational cohort study. We will include 230 patients with moderate or mild hemophilia A or B (FVIII/FIX 0.02-0.35 IU/mL) who are 12 to 55 years old. The main cohort study consists of clinical data collection, one blood sample and an online questionnaire for patients. Data will be collected on the nature and duration of all bleeding episodes, disease and treatment characteristics, physical activity level and musculoskeletal status. One blood withdrawal will be performed for centralized laboratory assays for FVIII or FIX levels (both one-stage and chromogenic assays) and genetic analysis for the most prevalent prothrombotic mutations. The online questionnaire for patients focuses on bleeds experienced in the past.

A subset of 50 patients aged 24 years or older with mild and moderate hemophilia A will be investigated in more detail by longitudinal data collection including analysis of physical joint status, MRI imaging of joints and biomarkers for joint damage. This longitudinal observation will consist of two time points that lie two years apart, allowing us to identify any changes that occur over the observed time period with respect to joint status.

Conditions

• Hemophilia

Interventions

OTHER

Blood sample

Blood withdrawal.

OTHER

Questionnaire

Online questionnaire about the bleeds that patients experienced in the past.

OTHER

MRI-imaging

MRI imaging of joints.

OTHER

Physical examination

Physical examination of joint status.

Sponsors & Collaborators

• Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

  lead OTHER

Principal Investigators

• Karin Fijnvandraat · Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

Eligibility

Min Age

12 Years

Max Age

55 Years

Sex

MALE

Healthy Volunteers

No

Timeline & Regulatory

Start

2018-01-01

Primary Completion

2021-10-01

Completion

2021-10-01

Countries

• Australia
• Austria
• Belgium
• Canada
• Finland
• Germany
• Italy
• Netherlands
• Spain
• United Kingdom

Study Locations