European Association For Haemophilia And Allied Disorders Research Articles

Non-Factor Therapies: Reflections on Current Clinical Practice

The 17th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) took place on 6th–9th February 2024 in Frankfurt, Germany. In a comprehensive and interactive session, healthcare experts and patients gathered to discuss current approaches in clinical practice. The session was chaired by Jan Blatny, University Hospital Brno, Czechia; and Niamh O’Connell, The National Coagulation Centre, St James’s Hospital, Dublin, Ireland.

Review of the European Association for Haemophilia and Allied Disorders (EAHAD) Annual Congress 2024

Review of the European Association for Haemophilia and Allied Disorders (EAHAD) Annual Congress 2024

F8/F9 variants in the population-based PedNet Registry cohort compared with locus-specific genetic databases of the European Association for Haemophilia and Allied Disorders and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project

BackgroundHemophilia A and B are caused by variants in the factor (F) VIII or FIX gene. Selective reporting may influence the distribution of variants reported in genetic databases. ObjectivesTo compare the spectrum of F8 and F9 variants in an international population-based pediatric cohort (PedNet Registry) with the spectrum found in the European Association for Haemophilia and Allied Disorders (EAHAD) and the Centers for Disease Control and Prevention Hemophilia A or Hemophilia B Mutation Project (CHAMP/CHBMP) databases. MethodsAll patients registered in the PedNet Registry on January 1, 2021 were included in this study. As comparators, data from patients with severe hemophilia included in the CHAMP/CHBMP registry (US center data) and EAHAD were used. ResultsGenetic information was available for 1941 patients. Intron 22 inversion was present in 52% of patients with severe hemophilia A; frameshift (36%), missense (28%), and nonsense (20%) were the most frequent variants in patients with severe hemophilia A who were inversion-negative. The most frequent variants in severe hemophilia B were missense (48%). In nonsevere disease, most variants were missense variants (moderate hemophilia A: 91%; mild hemophilia A: 95%, moderate and mild hemophilia B: 86% each). Comparison with the databases demonstrated a higher proportion of missense variants associated with severe hemophilia B in EAHAD (68%) than in PedNet (48%) and CHBMP (46%). ConclusionThe PedNet population-based cohort provides an alternative to the established databases, which collect data by selective reporting, as it is a well-maintained database covering the full spectrum of pathogenic F8 and F9 variants, and indicates the number of patients affected by each particular variant.

European principles of care for physiotherapy provision for persons with inherited bleeding disorders: Perspectives of physiotherapists and patients.

In their Chronic Care Model, the World Health Organisation states that people with chronic disorders and their families should be informed about the expected course, potential complications, and effective strategies to prevent complications and manage symptoms. Physiotherapists are a key professional group involved in the triage, assessment and management of musculoskeletal conditions of persons with a bleeding disorder (PWBD). Nevertheless, recent reports describe access to physiotherapy for those with these conditions is only sometimes available. Access to high quality individualised physiotherapy should be ensured for all PWBD, including those with mild and moderate severities, male and female, people with von Willebrand Disease (vWD) and other rare bleeding disorders. Physiotherapy should be viewed as a basic requisite in their multidisciplinary care. Following a series of meetings with physiotherapists representing the European Association for Haemophilia and Allied Disorders (EAHAD) and PWBD representing the European Haemophilia Consortium (EHC) and a review of publications in the field, eight core principles of physiotherapy care for persons with a bleeding disorder have been co-produced by EAHAD and EHC. These eight principles outline optimum standards of practice in order to advocate personalised patient-centred care for physical health in which both prevention and interventions include shared decision making, and supported self-management.

Delivery of AAV-based gene therapy through haemophilia centres-A need for re-evaluation of infrastructure and comprehensive care: A Joint publication of EAHAD and EHC.

Adeno-associated virus (AAV)-based gene therapy for haemophilia presents a challenge to the existing structure of haemophilia centres and requires a rethink of current collaboration and information exchange with the aim of ensuring a system that is fit-for-purpose for advanced therapies to maximise benefits and minimise risks. In Europe, a certification process based on the number of patients and facilities is offered to the haemophilia centres by European Haemophilia Network (EUHANET). This joint European Association for Haemophilia and Allied Disorders (EAHAD) and European Haemophilia Consortium (EHC) publication describes criteria for centres participating in gene therapy care that require a reassessment of the infrastructure of comprehensive care and provides an outlook on how these criteria can be implemented in the future work of haemophilia centres. The core definition of a haemophilia treatment centre remains, but additional roles could be implemented. A modifiable 'hub-and-spoke' model addresses all aspects associated with gene therapy, including preparation and administration of the gene therapy product, determination of coagulation and immunological parameters, joint score and function, and liver health. This will also include the strategy on how to follow-up patients for a long-term safety and efficacy surveillance. We propose a modifiable, networked 'hub and spoke' model with a long term safety and efficacy surveillance system. This approach will be progressively developed with the goal of making haemophilia centres better qualified to deliver gene therapy and to make gene therapy accessible to all persons with haemophilia, irrespective of their country or centre of origin.

Addressing unmet needs in rare bleeding disorders: Selected poster extracts of recent research in hemophilia A and von Willebrand’s disease presented at the 14th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) (Feb 3–5, 2021; virtual congress)

ABSTRACT Hemophilia A and von Willebrand disease (VWD) are inherited rare bleeding disorders affecting normal hemostasis. Patients with VWD, especially those with severe disease types, share some similarities to patients with hemophilia A in their burden of disease: they suffer from an increased risk of potentially severe and life-threatening bleeds and associated long-term consequences, such as impaired joint health and overall lower quality of life. However, the two bleeding disorders differ in their primary cause and affected patient population, and comprise a range of different bleeding phenotypes with varying unmet needs. Generating scientific evidence to advance health care for patients with rare bleeding disorders is challenging due to the low prevalence and heterogeneity of affected populations, including patient demographics and symptom severities. Innovative study designs are needed to adequately answer relevant scientific questions and address patients’ unmet needs. In support of advancing clinical outcomes and treatment options for these patients, at the recent EAHAD 2021 annual congress, novel approaches and data from clinical and real-world observational studies, as well as systematic literature analyses, were presented. Herein, extracts from seven selected posters reporting research in hemophilia A and VWD funded by Takeda are discussed.

Evolution of haemophilia integrated care in the era of gene therapy: Treatment centre's readiness in United States and EU.

Evolution of haemophilia integrated care in the era of gene therapy: Treatment centre's readiness in United States and EU.

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.

Advances in genomic sequencing have facilitated the sequencing of genes associated with disorders of haemostasis. The identification of variants within genes and access to curated data incorporating structural, functional, evolutionary as well as phenotypic data has become increasingly important in order to ascribe pathogenicity. The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Database Project aims to provide a single port of entry to a web-accessible resource for variants in genes involved in clinical bleeding disorders. New databases have evolved from previously developed single gene variant coagulation database projects, incorporating new data, new analysis tools and a new common database architecture with new interfaces and filters. These new databases currently present information about the genotype, phenotype (laboratory and clinical) and structural and functional effects of variants described in the genes of factor (F) VII (F7), FVIII (F8), FIX (F9) and von Willebrand factor (VWF). The project has improved the quality and quantity of information available to the haemostasis research and clinical communities, thereby enabling accurate classification of disease severity in order to make assessments of likely pathogenicity.

Professional education among haemophilia nurses: a survey of current practices

Abstract Background: Guidance from the European Association for Haemophilia and Allied Disorders (EAHAD) sets out the educational milestones haemophilia nurses should aim to achieve. However, little is known about the resources nurses use for education and current awareness. Aims: To assess the current educational level of haemophilia nurses, how and where they access ongoing education, where they feel they need extra support, and how best this teaching could be delivered. Methods: Haemophilia nurses in the Haemnet Horizons group devised and piloted a questionnaire. This was distributed in hard copy to nurses attending the 2019 EAHAD Congress and promoted as an online survey hosted by Survey Monkey. Results: Seventy-five replies were received from nurses in Europe (46 in the UK), and two from nurses in Chile and the Philippines. Most described their role as ‘specialist nurse’, with the majority having worked in haemophilia care for up to ten years. Half had a nursing degree and one quarter had a nursing diploma. Three quarters had attended at least one course specifically related to haemophilia nursing. Almost all used academic sources, study days and the websites of health profession organisations as information sources. Most also used Google or Wikipedia, but fewer used Twitter. Patient association websites were more popular among non-UK nurses. About half attended sponsored professional meetings and three quarters reported that educational meetings were available in their workplace. A clear majority preferred interactive and face-to-face activities using patient-focused content. Conclusions: The study shows that nurses, predominantly in Western Europe, access a range of educational resources, most of which are ‘traditional’. Use of online sources is high, but social media are less popular than Google or Wikipedia. Further research is needed to explore the potential of new media for haemophilia nurse education, and whether the current educational levels and needs highlighted in the survey remains the same across the whole of Europe.

Real‐life experience in switching to new extended half‐life products at European haemophilia centres

The concept of replacement therapy in haemophilia is changing significantly thanks to the switch from standard products to extended half-life products. These novel drugs are showing beneficial effects overcoming current prophylaxis limitations by reducing the infusion frequency, maintaining a higher trough level to ensure a lower risk of bleeding, and making treatment significantly less distressing to patients by improving the quality of life. Real-life data on the efficacy of novel drugs and their impact on routine management of haemophilia A and B patients are still limited. This manuscript reports the results of a European survey conducted by the European Association for Haemophilia and Allied Disorders (EAHAD) at the beginning of 2018 on the clinical management of patients using extended half-life recombinant FVIII and FIX fusion products, since at the time of the survey none of the PEGylated products were available yet. We report data on the efficacy of these novel drugs by 33 European haemophilia centres that have already switched to extended half-life fusion products, showing a significant reduction in the number of infusions and a satisfactory trough levels in the clinical care of haemophilia patients, with a greater impact for haemophilia B.

Scope of practice of haemophilia physiotherapists: A European survey.

European guidelines on the care of haemophilia recommend ready access to a range of services provided by a multidisciplinary team of specialists including physiotherapy. However, the scope of physiotherapy provided is unknown. The Physiotherapists Committee of the European Association for Haemophilia and Allied Disorders (EAHAD) conducted a web-based survey to quantify the role and scope of practice of physiotherapists involved in haemophilia care. The survey was sent to more than 200 physiotherapists registered on the EAHAD database. Questions concerned their work practices including assessment and treatment activities and level of autonomy. Eighty physiotherapists from twenty-four European countries responded. Considerable heterogeneity exists in roles, responsibilities, and clinical practice of physiotherapists, particularly in access to and type of physiotherapy treatment provided, as well as the skill set and autonomy of physiotherapists to make independent assessment and treatment decisions. This pan-European survey establishes a context to support physiotherapy role development and professional identity. Key recommendations include the following: (a) establishing a pan-European network to support collaboration and education for physiotherapists working in haemophilia, (b) developing a core skills and capability framework to ensure person-centred approaches are central as well as working in partnership with those with the condition to maximize early recovery, support self-management and enablement in remaining active and independent, (c) regular training, standardized validation and maintenance of competency for assessment tools, (d) well-designed randomized clinical studies with larger numbers of participants from multiple sites should be the focus of future research.

All too common: bleeding and genetic variation

Inherited bleeding disorders are both common and challenging to diagnose, particularly when the disorder is mild (reviewed in references [1, 2]). Most mild bleeding disorder patients are not routinely bleeding in their daily lives, and it can be difficult to differentiate bleeding events common in healthy populations from events which rise to the level of pathology. Fundamental to the diagnosis of bleeding disorders is a detailed assessment of the history of the patient and the family. This article is protected by copyright. All rights reserved.

Haemophilia in a real-world setting: the value of clinical experience in data collection.

At the 8th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) held in Helsinki, Finland, in February 2015, Pfizer sponsored a satellite symposium entitled: 'Haemophilia in a real-world setting: The value of clinical experience in data collection' Co-chaired by Riitta Lassila (Helsinki University Central Hospital, Helsinki, Finland) and Gerry Dolan (Guy's and St Thomas' Hospital, London, UK); the symposium provided an opportunity to explore the practical value of real-world data in informing clinical decision-making. Gerry Dolan provided an introduction to the symposium by describing what is meant by real-world data (RWD), stressing the role RWD can play in optimising patient outcomes in haemophilia and highlighting the responsibility of all stakeholders to collaborate in continuous data collection. Kristian Juusola (Oulu University Hospital, Oulu, Finland) then provided personal experience as a haemophilia nurse around patient views on adherence to treatment regimes, and how collecting insights into real-world use of treatment can shape approaches to improving adherence. The importance of elucidating pharmacokinetic parameters in a real-world setting was then explored by Vuokko Jokela (Helsinki University, Helsinki, Finland). Finally, Alfonso Iorio (McMaster University, Hamilton, Ontario, Canada) highlighted the importance of quality data collection in translating clinical reality into scientific advances.

Pharmacokinetics, phenotype and product choice in haemophilia B: how to strike a balance?

At the 7th Annual Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) held in Brussels, Belgium, in February 2014, Pfizer sponsored a satellite symposium entitled: "Pharmacokinetics, phenotype and product choice in haemophilia B: How to strike a balance?" Co-chaired by Cedric Hermans (Cliniques Universitaires Saint Luc, Brussels, Belgium) and Mike Laffan (Imperial College, London, UK), the symposium provided an opportunity to debate whether pharmacokinetic (PK) parameters are good surrogates for clinical efficacy for haemophilia B in clinical practice, consider the perceptions and evidence of disease severity, and examine how these considerations can inform approaches to balancing the potential risks and benefits of the currently available treatment options for haemophilia B. PK parameters are routinely measured in clinical practice and are a requirement of regulatory bodies to demonstrate the clinical efficacy of products; however, the relationship between measured PK parameters and clinical efficacy is yet to be determined, an issue that was debated by Gerry Dolan (University Hospital, Queen's Medical Centre, Nottingham, UK) and Erik Berntorp (Lund University, Malmö Centre for Thrombosis and Haemostasis, Malmö, Sweden). Elena Santagostino (Universita degli Studi di Milano, Milano, Italy) reviewed how differing perceptions on the severity of haemophilia B compared with haemophilia A may have an impact on clinical decision-making. Finally, Andreas Tiede (Hannover Medical School, Hannover, Germany), examined the considerations for balancing the potential risks and benefits of the currently available treatment options for haemophilia B. Although the pathophysiology of haemophilia B has been widely studied and is largely understood, continued investigation and discussion around the optimal management course and appropriate therapeutic choice is warranted.

Interventions for treating acute bleeding episodes in people with acquired hemophilia A.

Acquired hemophilia A is a rare bleeding disorder caused by autoantibodies to coagulation factor VIII (FVIII). In most cases, bleeding episodes are spontaneous and severe at presentation. The optimal hemostatic therapy is controversial. To determine the efficacy of hemostatic therapies for acute bleeds in people with acquired hemophilia A; and to compare different forms of therapy for these bleeds. We searched the Cochrane Central Register of Controlled Trials (CENTRAL) (The Cochrane Library 2014, Issue 4) and MEDLINE (Ovid) (1948 to 30 April 2014). We searched the conference proceedings of the: American Society of Hematology; European Hematology Association; International Society on Thrombosis and Haemostasis (ISTH); and the European Association for Haemophilia and Allied Disorders (EAHAD) (from 2000 to 30 April 2014). In addition to this we searched clinical trials registers. All randomised controlled trials and quasi-randomised trials of hemostatic therapies for people with acquired hemophilia A, with no restrictions on gender, age or ethnicity. No trials matching the selection criteria were eligible for inclusion. No trials matching the selection criteria were eligible for inclusion. No randomised clinical trials of hemostatic therapies for acquired hemophilia A were found. Thus, we are not able to draw any conclusions or make any recommendations on the optimal hemostatic therapies for acquired hemophilia A based on the highest quality of evidence. GIven that carrying out randomized controlled trials in this field is a complex task, the authors suggest that, while planning randomised controlled trials in which patients can be enrolled, clinicians treating the disease continue to base their choices on alternative, lower quality sources of evidence, which hopefully, in the future, will also be appraised and incorporated in a Cochrane Review.

6th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 6–8 February 2013, Warsaw, Poland

6th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 6–8 February 2013, Warsaw, Poland

6th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 6–8 February 2013, Warsaw, Poland

HaemophiliaVolume 18, Issue 6 p. 1014-1014 Announcement 6th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 6–8 February 2013, Warsaw, Poland First published: 29 October 2012 https://doi.org/10.1111/hae.12037Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume18, Issue6November 2012Pages 1014-1014 RelatedInformation

6th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 6–8 February 2013, Warsaw, Poland

6th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 6–8 February 2013, Warsaw, Poland

5th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 22-24 February 2012, Rome, Italy

HaemophiliaVolume 17, Issue 6 p. 980-980 ANNOUNCEMENT 5th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD) 22–24 February 2012, Rome, Italy First published: 26 October 2011 https://doi.org/10.1111/j.1365-2516.2011.02634.xRead the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat No abstract is available for this article. Volume17, Issue6November 2011Pages 980-980 RelatedInformation

5th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD)

5th Congress of the European Association for Haemophilia and Allied Disorders (EAHAD)