Research Grants

Exploring the Management of Physical health issues and physiOtherapy care for WomEn and giRls with inherited bleeding disorders (EMPOWER)

Megan Kennedy
University of Dublin, Trinity College

Lay Summary: The bleeding experienced by Women and Girls with Bleeding Disorders (WGBD) may seriously impact their physical health, function, school, work, physical activity and sport participation, as well as their overall enjoyment of life. Physiotherapists examine and treat physical health issues experienced by people with bleeding disorders, but there is little research focused on the specific physical health issues and physiotherapy needs for WGBD. This study aims to address this research gap by exploring physical health issues experienced by WGBD and their access to physiotherapy care and treatment, with meaningful input from patients, their families, and physiotherapists. This study aims to identify gaps in current care for the physical health challenges facing WGBD. In the longer term, we hope that this study will improve awareness, access and management of these issues within our patient community and healthcare centres.
Project duration: 18 months
Grant amount: € 25.000

Unravelling the pathophysiological mechanism underlying the bleeding tendency in factor XI-deficient patients: a sub-study from the nationwide RBiN study

Bauke Haisma
Radboud university medical center, Hemophilia Treatment Center,
Nijmegen-Eindhoven-Maastricht

Lay Summary: Our research project aims to identify the key factors contributing to bleeding tendency in patients with FXI deficiency. To achieve this, we plan to analyze data on patients’ bleeding tendencies alongside information on their clotting factors, genetic profiles, and the specific forms of FXI protein present in their plasma. By gaining a deeper understanding of the bleeding tendencies in FXI deficiency, we can pursue more effective and personalized approaches to managing bleeding in these patients.
Project duration: 12 months
Grant amount: € 40.000

Rare Genetic Modifiers of bleeding severity at haemophilia A: interpretation of panel tests and a proof of principle functional study

Radha Ramanan
KU Leuven, Belgium

Lay Summary: This study aims to understand why some people with a bleeding disorder (for example, haemophilia A) have more or less bleeding than you’d expect. We are going to look at the genes of people with haemophilia A to see if there are any genetic differences that make their condition better or worse. We will also study one person in particular who has a severe form of haemophilia A but doesn’t seem to bleed as much as expected, to find out why this person’s case is different.
Project duration: 12 months
Grant amount: € 20.000

Analysis of FVIII reservoirs on cell surfaces and their potential impact on coagulation

Esra Kiraz
Goethe University Frankfurt, Department of Paediatrics

Lay Summary: Routinely the activity of coagulation FVlll is measured in patients’ plasma for the diagnosis and to guide treatment in patients with haemophilia A. However, for some patients, the tendency to bleed cannot be explained by the measured FVll activity levels only. Based on the preliminary findings, we are expecting a role of FVll bound to blood cells not detected by current coagulation assays. Thus, we are aiming to analyse how much FVlll is bound to cells in the blood of haemophilia A patients and healthy controls. Our results might lead to further understanding and especially to personally tailor haemophilia A treatment.
Project duration: 12 months
Grant amount: € 47.990

Sexual functioning in men with haemophilia: measurement and communication

Lotte Haverman
Amsterdam UMC

Lay Summary: One can assume sexuality is a crucial component in the life of every human being. Sexual functioning and satisfaction is an important aspect of health-related quality of life [1]. In general, patients think sexuality and intimacy is an important topic to discuss with their healthcare professional [9]. More knowledge and skills to discuss problems in sexual functioning is important, especially in MWH considering the problems they may experience. Therefore, this study aims to get more insight into the sexual functioning and satisfaction of men with haemophilia by developing a valid and reliable measure that can be used in clinical practice.
Project duration: 24 months
Grant amount: € 25.000

Examination of the acceptability of digitalisation of the Timed Up and Go test for remote assessment in people with haemophilia

Louise Crossley
Cardiff University

Lay Summary: The Timed Up and Go test (TUAG) evaluates mobility, gait and balance and is widely used to evaluate falls risk in the general population and in other health conditions. This project will establish the acceptability and practicality of collecting this information from people with a bleeding disorder remotely at home via movement analysis software, and establish the views of participants on the use of this technology. If acceptable to patients, this approach will reduce the burden of hospital visits, provide valuable feedback to the patient increasing efficiency and effectiveness of the rehabilitation, and allow physiotherapists to potentially identify people at risk of falling so that appropriate interventions can be implemented earlier.
Project duration: 10 months
Grant amount: € 21.184

Identifying Performance-based Outcome measures of Physical function in people with haemophilia (IPOP)

David Stephensen, MD
Kent Haemophilia & Thrombosis Centre, Canterbury

Lay Summary: The current physical assessment of people with haemophilia focuses on ‘what joints look like’ (joint scores) and includes little information on what activities a person can do and how they might do them. We want to find out what people with haemophilia think about measuring the activities they can do and what the best way of doing this might be. This information could be added to ‘what joint looks like’ when monitoring the physical health of people with haemophilia to give them more information about their condition.
Project duration: 12 months
Grant amount: € 25.000

Exploring Posttraumatic Stress Symptoms and Pain Memories in People with Haemophilia and the influence on current pain experience

Anna Wells, PhD
Basingstoke Haemophilia, Haemostasis & Thrombosis Centre

Lay Summary: We are interested in understanding experiences of previous painful events and exploring how these memories may impact on individuals’ day to day to life. We aim to gain a greater understanding of factors which may influence people’s current pain experience. We hope that what we learn as part of this research can be taken forwards to help develop better pain management within bleeding disorder services.
Project duration: 12 months
Grant amount: € 25.000

Neutrophils wandering in patients with haemophilia (New path)

Heike Hawerkamp, PhD
Trinity Biomedical Sciences Institute, Trinity College Dublin

Lay Summary: This project will investigate the role of neutrophils – a specific type of immune cell – and its secreted effector molecules in haemophilia. Detailed knowledge about the function of these circulating immune cells in haemophilia might be highly beneficial in improving patient therapies and healthcare.
Project duration: 10 months
Grant amount: € 50.000

Engineering and production of recombinant factor eight with long half-life and high coagulant activity

Michele Lai, PhD
University of Pisa – Dipartimento di Ricerca Traslazionale e delle Nuove Tecnologie in Medicina e Chirurgia

Lay Summary: The present proposal aims the selection of mutated FVIII (mFVIII) with improved stability, half-life and functional activity compared to products already on the market. Moreover, we aim to find novel mFVIII that exhibit less immunogenicity.
Project duration: January 2022 – January 2024
Grant amount: € 25.000

Knowledge and attitudes of haemophilic patients toward gene therapy (KAHaGeT)

Ilaria Cutica, PhD
Fondazione Luigi Villa, Ospedale Maggiore Policlinico

Lay Summary: Haemophilia gene therapy is in late stages of development and hopefully it will get market authorization soon. However, not all haemophiliac patients know the functioning of gene therapy, nor its risks and benefits. For this reason, patients may feel disoriented by their doctor’s proposal to undergo gene therapy and have difficulty making choices. This study investigates the level of literacy about gene therapy and the attitudes toward it in a cohort of Italian haemophilic patients, focusing on their information needs, priorities and concerns, in order to identify the main factors associated with their willingness to accept gene therapy. A better understanding of all factors that play a role in decisions about such treatment will help clinicians to effectively communicate with their patients about this topic, and to better respond to their needs in order to support their decision process.
Project duration: October 2021-October 2022
Grant amount: € 25.000

Development of a novel gene therapy approach for Glanzmann thrombasthenia (GT): Assessment in CRISPR GT cell model, GT patient progenitor cells, and NBSGW immunodeficient mice

Jose Rivera, PhD
Hospital Universitario Morales Meseguer, Centro, Regional de Hemodonación, Universidad de Murcia, Spain

Lay Summary: This project will evaluate a gene rescue approach as an alternative therapy for Glanzmann thrombasthenia. The main objective is to prove that ex vivo genetic correction of patient’s HSC will correct the bleeding phenotype.
Project duration: February 2020-February 2022
Grant amount: € 50.000

Getting GRIP on Tolerance: The role of Fc Gamma Receptors in Immune tolerance to Protein therapeutics

Samantha Gouw MD, PhD
Amsterdam University Medical Center, The Netherlands

Lay Summary: Antibodies against protein drugs impair effective treatment. Strategies to get rid of these antibodies fail in many patients. In haemophilia patients, this project aims to clarify the underlying reasons and to find genetic factors that can be used to predict who will and will not get rid of these antibodies.
Project duration: July 2019-January 2021
Grant amount: € 50.000

Towards a better understanding of ankle pain in haemophilia patients: A study examining the relationship between structure and function, taking pain mechanisms into account

Nathalie Roussel, PhD, MSc, PT
Faculty of Medicine & Health Sciences, University of Antwerp, Belgium

Lay Summary: While pain is of major importance in many patients with haemophilia, pain assessment and treatment are not well developed in this population. This is the first study evaluating the structural and functional status of affected ankle joints combined with the local and central pain condition in patients with haemophilia in order to understand the complexity of ankle pain better.
Project duration: April 2019-April 2020
Grant amount: € 50.000

Interactions between fibrinogen variants and blood cells: towards a predictive model in congenital fibrinogen disorders

Alessandro Casini, MD
University Hospitals of Geneva, Geneva, Switzerland

Lay Summary: Patients suffering from congenital fibrinogen disorders often have an unpredictable clinical course. Developing methods, which allow the prediction of adverse outcomes, is crucial in order to tailor the best management for these patients. The aim of this project is to determine the interplay between fibrinogen, red blood cells and platelets through the study of the whole blood clot from patients with congenital fibrinogen disorders.
Project duration: October 2018-September 2019
Grant amount: € 45.000

High throughput generation and characterization of monoclonal anti-FVIII IgG from patients with hemophilia A

Sébastien Lacroix-Desmazes, PhD, Research Director
INSERM, Centre de Recherche des Cordeliers 15, Paris, France

Lay Summary: Treatment of patients with hemophilia A by injection of therapeutic FVIII induces blocking anti-factor VIII antibodies in up to one patient out of three. In this project, we will isolate the cells that produce anti-factor VIII antibodies from the blood of some patients and generate a large array of single recombinant anti-factor VIII antibodies. We will then establish the ID card of each of the anti-factor VIII antibodies. This will lead to the identification of prognostic markers for successful patient treatment, as well as the development of new treatments to prevent the appearance of or eliminate anti-factor VIII antibodies.
Project duration: March 2018-February 2020
Grant amount: €50,000

Does ADAMTS13 influence the bleeding phenotype in von Willebrand disease?

Johan Boender, MD
Erasmus University Medical Center, Rotterdam, the Netherlands
Project duration: April 2017-March 2018
Grant amount: €47,950

High-throughput analysis of antibody binding profiles in previously untreated patients with severe haemophilia A

Roberta Palla, PhD
Fondazione Luigi Villa, Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, Fondazione IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy
Project duration: April 2017-March 2019
Grant amount: €50,000