rss_2.0The Journal of Haemophilia Practice FeedSciendo RSS Feed for The Journal of Haemophilia Practice Journal of Haemophilia Practice Feed journey of gene therapy in haemophilia – putting the patient at the centre of the hub and spoke model<abstract> <title style='display:none'>Abstract</title> <p>As gene therapy for haemophilia is now licensed in Europe, and the hub and spoke approach is widely promoted for its delivery and follow-up, it is essential that people with haemophilia (PwH) who are eligible and opt to have this treatment are enabled to obtain the maximum benefit. Ensuring the pathway that makes up the patient gene therapy journey is effective is key to achieving this. EAHAD and the EHC have recommended that gene therapy is delivered through a hub and spoke model of care to ensure that the right expertise is available throughout the various stages of the haemophilia gene therapy journey. Effective communication between hub and spoke centres is essential, and the processes that make up the journey must be understood clearly by both PwH and the multidisciplinary teams delivering their care. The starting point for this is to take each step of the gene therapy journey in turn – through initial engagement, eligibility, detailed patient education, informed decision-making, dosing, and follow up in year 1, year 2 and beyond – and to consider and identify the roles and responsibilities of the patient, the hub centre and the spoke centre. It is important that the expectations of both health care practitioners (HCPs) and patients are aligned with the key challenges and goals associated with each step. Understanding these from the patient point of view will help to ensure that the individual PwH treading this path receive the information, guidance and support they need from hub and spoke HCPs throughout their journey, and that they, as the patient, remain the focus of care. Visualising the journey may help to explain the gene therapy clinical pathway to PwH and could provide a useful tool for HCPs in spoke centres. Visualisation may also serve as a tool for facilitating discussion, not only in terms of initial engagement and education, but throughout the haemophilia gene therapy journey.</p> </abstract>ARTICLEtrue ATHN 7: Safety, effectiveness and practice of treatment of people with haemophilia in the United States through a natural history cohort study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>Haemophilia A and B are X-linked inherited bleeding disorders, resulting in the deficiency of clotting factor VIII and IX, respectively. Since the introduction of recombinant clotting factor concentrates in the early 1990s, the major safety concern for haemophilia therapy has been the development of inhibitory antibodies, or inhibitors. Over the recent past, new therapies for the treatment and prevention of bleeding have received regulatory approval or are under study.</p></sec> <sec><title style='display:none'>Objective</title><p>‘ATHN 7: A Natural History Cohort Study of the Safety, Effectiveess, and Practice of Treatment for People with Hemophilia is designed to determine the safety of current haemophilia therapies when used for participants with haemophilia with or without inhibitors. Secondarily, ATHN 7 will describe the real-world effectiveness of current therapies by assessing bleeding rate and location, therapy utilisation, adherence, and patient-reported outcomes.</p></sec> <sec><title style='display:none'>Methods</title><p>This longitudinal, observational cohort study by the American Thrombosis and Hemostasis Network (ATHN) will follow participants with haemophilia with or without inhibitors for four years from the time of enrolment. Each participant is assessed every three months. All data are collected into ATHN Systems. The primary outcome measure is the incidence of safety events as defined by the European Haemophilia Safety Surveillance (EUHASS) programme. Effectiveness will be described based on annualised bleeding rate, therapy utilisation, adherence, and patient-reported outcomes.</p></sec> <sec><title style='display:none'>Conclusion</title><p>As the first product-agnostic, real-world study of haemophilia therapy in the United States, ATHN 7 collects data to determine current intervention safety and effectiveness. Based on this success, ATHN will continue to collect these data longitudinally through the ATHN Transcends study.</p></sec> </abstract>ARTICLEtrue Cinderella Study: women's lived experience of bleeding disorders – CSL Behring Symposium<abstract> <title style='display:none'>Abstract</title> <p>Many of the experiences described by women 20 years ago remain prevalent today, and healthcare provision needs to change to offer better treatment and support to women in the bleeding disorder community. These were the key findings of the recently published Cinderella study, which explored the lived experience of women who bleed due to a diagnosed bleeding disorder in order to improve understanding of their unmet needs. Following a systematic literature review to establish what previous research had been carried out in women with bleeding disorders, the Cinderella study undertook an online survey and in-depth discussions (focus groups and one-to-one interviews) to further explore the lived experiences of women haemophilia carriers (WHC), women with a diagnosed bleeding disorder (WBD) and women with immune thrombocytopenia (WITP). The study demonstrated the significant impact of bleeding disorders on the daily lives of survey respondents and the challenges of accessing specialist support, particularly for WHCs. Themes discussed included difficulty obtaining a diagnosis, lack of awareness amongst and poor communication from HCPs, stress and anxiety, coping strategies and sources of support.</p> </abstract>ARTICLEtrue Second European Conference on Women and Bleeding Disorders, Basel, Switzerland, 10–12 May 2022 on musculoskeletal health in women with bleeding disorders<abstract> <title style='display:none'>Abstract</title> <p>Maintaining good musculoskeletal health, including good oral health, is as important for women with bleeding disorders (WBD) as it is for men. Many people with bleeding disorders ignore bleeding from their gums, believing it to be part of their condition. However, it may be a sign of periodontal disease, which left untreated can lead to accelerated tooth loss and infection, adversely affecting overall health. A good diet and access to good dental care from childhood are important to maintaining good oral health in WBD. Joint bleeding and degeneration are not limited to people with more severe forms of haemophilia; joint-related diagnoses have been shown to be twice as common among haemophilia carriers and women with mild haemophilia than in the general population. Women with type 3 von Willebrand disease experience comparable joint outcomes to younger intensively treated patients with severe haemophilia. Neither gum nor joint bleeds should ever be considered normal, as both can be treated to avoid progressive disease. Dental and joint specialists and physiotherapists should work closely with haemophilia teams to ensure optimal care for long-term preservation of musculoskeletal health.</p> </abstract>ARTICLEtrue to improve quality of life in women with bleeding disorders<abstract> <title style='display:none'>Abstract</title> <p>Systematic structures to understand the incidence and prevalence of bleeding disorders in women and girls are in place in some countries and becoming more robust, though there is still room for improvement. More co-ordinated data gathering is providing new insights into the diagnosis and treatment of girls with bleeding disorders and demonstrating clear deficits in care compared with boys that can have important implications around puberty. Recognition and recording of female symptoms such as heavy menstrual bleeding (HMB) may lag behind that of symptoms with a greater perception bias, such as joint bleeds, and affect quality of life and wellbeing. Addressing inequity of symptom recognition and recording is needed to drive appropriate and timely treatment interventions. New symptom tools can empower patients to differentiate normal from abnormal bleeding so they can seek and receive help. Greater awareness among health care professionals (HCPs) of women's bleeding disorders and the establishment of referral networks for diagnosis and treatment, with multidisciplinary assessment and follow-up, are still needed.</p> </abstract>ARTICLEtrue worldwide for women with bleeding disorders<abstract> <title style='display:none'>Abstract</title> <p>Raising awareness that bleeding disorders affect women – not just men – is a key part of advocacy initiatives around the world. The European Haemophilia Consortium (EHC) and national patient organisations have run successful campaigns, with a wealth of information for women and girls with bleeding disorders and non-specialist healthcare professionals, including bleeding assessment tools, patient stories, blogs and videos. Some hold conference sessions and webinars devoted to bleeding disorders in women. By drawing on ideas and resources already available, patient organisations and other groups for women with bleeding disorders can fast-forward their advocacy plans, improve awareness and accelerate change.</p> </abstract>ARTICLEtrue and women with bleeding disorders<abstract> <title style='display:none'>Abstract</title> <p>As life expectancy increases, women with bleeding disorders can expect to live for decades after their menopause – potentially with a range of comorbidities including cardiovascular (CV) disease, cancer and osteoporosis. Menstrual bleeding around the menopause may be heavy and unpredictable for women with bleeding disorders (WBD). Hormone replacement therapy (HRT) remains the gold standard for those with debilitating menopausal symptoms and for osteoporosis prevention. Levels of endogenous von Willebrand factor (VWF) increase with age in the general population without bleeding disorders, with an associated rise in levels of Factor VIII (FVIII). Evidence also suggests age-related increases in VWF in people with von Willebrand disease (VWD), with limited but potentially associated evidence for increases in FVIII in those with mild or moderate haemophilia A. However, it appears that age-related changes in factor levels do not correlate completely with bleeding episodes, and more data are needed to fully understand the picture. New models of comprehensive care are needed that take account of age-related comorbidities in both women and men with bleeding disorders, including the impact of polypharmacy and its potential for causing adverse effects and impaired treatment adherence. Consideration will also be needed for bleeding cover during interventions such as surgery, radiotherapy and chemotherapy that become more likely with age. Protocols and care pathways need to be updated as the implications of ageing in women and men with bleeding disorders become better understood.</p> </abstract>ARTICLEtrue evaluation and preference of MixPro versus Mix2Vial reconstitution devices among people with haemophilia and caregivers<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>People with haemophilia (PwH) require frequent infusions with plasma-derived or recombinant coagulation factors to help prevent and treat acute bleeding episodes. This ‘replacement therapy’ can be administered at home by PwH or their caregivers using a drug reconstitution device. MixPro<sup>®</sup> and Mix2Vial<sup>®</sup> are two such devices.</p></sec> <sec><title style='display:none'>Aims/Objectives</title><p>To compare the experiences and evaluate the preferences of PwH and caregivers using two reconstitution devices: MixPro<sup>®</sup> and Mix2Vial<sup>®</sup>.</p></sec> <sec><title style='display:none'>Methods</title><p>Qualitative interviews were conducted between the 22 June and 4 August 2021 with male PwH or caregivers of PwH. Participants were asked questions about the reconstitution devices they have used in general, followed by questions relating specifically to the MixPro<sup>®</sup> or Mix2Vial<sup>®</sup> devices. Demonstration devices were provided to all participants during the interview.</p></sec> <sec><title style='display:none'>Results</title><p>In total, 105 participants (71 PwH and 34 caregivers) were interviewed in the USA, Italy, UK, and Japan. PwH had a mean age of 29 years (3–69 years). Overall, participants reported the number of parts, speed of reconstitution, and ease of use to be the largest unmet needs with reconstitution devices. Regarding the device features, <italic>low contamination risk</italic> was ranked as most important (importance score: 15.1) for all countries except Italy, where <italic>portability of the device</italic> was most important (11.7 for portability vs. 10.6 for low contamination risk). When MixPro<sup>®</sup> and Mix2Vial<sup>®</sup> features were independently evaluated, MixPro<sup>®</sup> outperformed Mix2Vial<sup>®</sup> across 17 of the 18 features; both devices were rated equally for <italic>low contamination risk</italic>. When asked which device performed best on each feature, MixPro<sup>®</sup> was chosen by the majority of participants (74%). MixPro<sup>®</sup> was associated with words such as <italic>quick</italic> (54%), <italic>user-friendly</italic> (47%), and <italic>easy</italic> (46%), while Mix2Vial<sup>®</sup> was associated with the words <italic>easy</italic> (33%), <italic>safe</italic> (32%), and <italic>awkward</italic> (30%). Participants felt MixPro<sup>®</sup> would make a positive difference to their lives citing reasons such as saving time, ease of portability, and general confidence in using the system. Relatively few participants thought Mix2Vial<sup>®</sup> would make a positive difference to their lives, with some noting it was not much different than the previous generation of devices.</p></sec> <sec><title style='display:none'>Conclusion</title><p>In this study, MixPro<sup>®</sup> was preferred over Mix2Vial<sup>®</sup> as a reconstitution device for PwH and caregivers of PwH.</p></sec> </abstract>ARTICLEtrue of perioperative practices for placement of central venous access devices (CVAD) in children with haemophilia<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>In children with haemophilia (CwH), central venous access devices (CVADs) are frequently placed to aid in the delivery of factor concentrates. In those who develop inhibitors, CVADs also allow for easy venous access and facilitation of immune tolerance therapy.</p> </sec> <sec><title style='display:none'>Aim</title> <p>In this study, we compare perioperative practices for CVAD placement in children with haemophilia to assess similarities and differences in practices across centres in two countries (Singapore and Canada).</p> </sec> <sec><title style='display:none'>Methods</title> <p>Retrospective chart review was conducted involving CwH (with and without inhibitors) who underwent CVAD placement from January 2007 to September 2017 at two centres in Singapore and at one centre in Hamilton, Canada. Data obtained included demographics, operative details, preoperative investigations, perioperative factor replacement, use of bypassing agents, antibiotic and antifibrinolytic use, length of stay, complications and need for CVAD revision.</p> </sec> <sec><title style='display:none'>Results</title> <p>Twenty-one CwH were included in the data analysis. Amongst those without inhibitors, the mean preoperative factor dose was 50.0 IU/kg (SD=7.6) in Singapore, and 72.4 IU/kg (SD=12.5) in Hamilton (p=0.002); mean total factor use in the perioperative period was 425.0IU/kg (SD=114.9) in Singapore and 646.8IU/kg (SD=118.1) in Hamilton (p=0.004); mean duration of clotting factor replacement was 5.3 days (SD=0.9) in Singapore and 6.9 days (SD=0.7) in Hamilton (p=0.004). Amongst those with inhibitors, the mean preoperative dose of rFVIIa was 160.5 mcg/kg (SD=99.9) in Singapore and 88.2 mcg/kg (SD=3.8) in Hamilton (p=0.244); mean total rFVIIa used from surgery to discharge was 3,008.0 mcg/kg (SD=2305.9) in Singapore and 2,640.2 mcg/kg (SD=134.1) in Hamilton (p=0.842); mean duration of rFVIIa cover was 5.3 days (SD=1.7) in Singapore and 9.5 days (SD=2.1) in Hamilton (p=0.054). None of the CwH without inhibitors developed postoperative complications, compared to 57% in those with inhibitors (p=0.006).</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>Amongst CwH without inhibitors, significant variations were seen in perioperative factor replacement. Amongst those with inhibitors, there were also differences in perioperative practices across centres, although not statistically significant. Across centres, CwH with inhibitors were found to have more postoperative complications.</p> </sec> </abstract>ARTICLEtrue“I didn’t know women could have haemophilia”: A qualitative case study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title> <p>There is a historic but persistent belief in haemophilia care that women do not suffer with the condition, they merely carry and transmit it. However, around 250 women worldwide are known to have factor levels within the severe to moderate haemophilia range (&lt;1 IU/dL to 5 IU/dL), and the true figure may be greater than this. The experience of these women may be the same as or similar to those of men with similar factor levels, but there may be significant differences. What these differences are and what they mean to the women affected are not well understood as their voices are not heard. This case study highlights the issues and experiences of one woman living severe haemophilia.</p> </sec> <sec><title style='display:none'>Methods</title> <p>A single semi-structured qualitative interview was undertaken to explore the experiences of a young woman who has factor VIII levels of &lt;1 IU/dL. The interview was recorded, transcribed and thematically analysed.</p> </sec> <sec><title style='display:none'>Results</title> <p>Four interlinked themes were identified: recognition, self-advocacy, identity and access to treatment.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>This case study indicates that, despite recent attempts to improve the diagnostic nomenclature, women and girls with haemophilia continue to find it difficult to access similar levels of care to men and boys. As such, they may fail to achieve parity in terms of safety, integrity and wellbeing, and have a reduced quality of life. If women and girls affected by haemophilia are to receive levels of treatment comparable to men, diagnostic criteria need to change further. Focusing on genotype, levels of factor expressed and phenotypical presentation rather than biological sex will acknowledge and validate their experiences, and improve treatment for all people with haemophilia in the future.</p> </sec> </abstract>ARTICLEtrue and experiences of satellite haemophilia clinic set-ups in Uganda – a short report<abstract> <title style='display:none'>Abstract</title> <p>Haemophilia knowledge and care are largely missing in much of sub-Saharan Africa and there is a need for concerted efforts to ensure access to care services by affected persons. Haemophilia Foundation Uganda, supported by the global haemophilia community and working with the Uganda Ministry of Health, has set up eight satellite haemophilia treatment centres (HTCs) as part of a wider initiative to raise awareness and improve haemophilia care. Setting up the HTCs has involved a six-step process involving stakeholders in government, healthcare and the community, and ranging from securing initial support to an ongoing follow-up programme of mentorship and training. Over 1,700 healthcare professionals have been trained and 186 patients have been registered at these peripheral facilities over the past five years. This is helping to improve access to care, but there are still shortcomings around diagnostic capacity, available healthcare personnel, and facilities to procure recombinant factor products. We will continue and further our advocacy for budgetary inclusion of haemophilia at political and facility levels. We also propose a continued strengthening of the haemophilia care teams through mentorship, networking, and mobilisation for diagnostic support at large public hospitals.</p> </abstract>ARTICLEtrue choice experiments: An overview of experience to date in haemophilia<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>The patient voice is an important consideration in the availability and choice of pharmaceuticals – however, how to capture this complex area and apply it formally within regulation, health technology assessment and reimbursement remains subject to ongoing debate. Patient preference studies such as discrete choice experiments (DCEs) are being utilised more frequently in healthcare and it is anticipated that patient preference data will be incorporated more frequently into regulatory submissions moving forward.</p></sec> <sec><title style='display:none'>Aim</title><p>The aim of this review is to provide an overview of DCEs conducted within haemophilia to date and to consider the key issues in response to a rapidly evolving therapeutic pathway.</p></sec> <sec><title style='display:none'>Methods</title><p>A systematic literature search was undertaken via Ovid MEDLINE and EMBASE CLASSIC + EMBASE. Abstracts were uploaded and analysed via Rayyan systematic review software. Results: Of 478 records identified from the database searches, 12 full text journal articles met the inclusion criteria with a date range from 2005–2021. There have been two published studies exploring haemophilia patient preferences in relation to gene therapy: one DCE and one utilising a threshold technique. Surveyed audiences included physicians, patients, pharmacists, healthcare professionals and caregivers. 50% of the included studies (n=6) were exclusively conducted in the US, whilst 3 recruited participants across multiple countries. The sample size varied considerably between studies with the total sample size ranging from 30 participants to 505 participants. For the studies involving patients and their caregivers, the mean patient age range was 8.2–41.4 years. There was diversity in (a) the scale of the qualitative work undertaken to support the DCEs, (b) the undertaking of pilots, and (c) how extensively these elements were reported in the included studies. There is a notable trend towards using an online web-based format, with 3 out of 4 DCEs since 2019 utilising this approach. The number of attributes observed per DCE ranged from 5–12 with a median of 6 attributes from the included studies. The number of levels per attribute was relatively consistent (range 2–5) with 2–3 (n=4) and 2–4 levels (n=4) being utilised most frequently.</p></sec> <sec><title style='display:none'>Conclusion</title><p>Patient preferences and the methods for capturing these are likely to be subject to ongoing debate as the haemophilia care pathway evolves to offer more therapeutic options with a range of risks and benefits. Whilst techniques such as DCE are effective at quantifying patient preferences, they tell us little about the reasons driving these decisions and the likelihood that they will change in response to temporal or external factors. DCEs could be particularly useful for estimating the uptake of new products and assessing potential budget impact. Accelerated and reformed regulatory processes are likely to increase demand for patient preference studies. There is therefore an increased requirement to ensure that patient advocacy groups (PAGs) are resourced and have the expertise to support these studies alongside other research commitments, and that manufacturers consider collaborative approaches when formally capturing patient preferences.</p> <p><fig id="j_jhp-2022-0006_fig_007" position="float" fig-type="figure"><caption><p>As more therapeutic options become available in haemophilia care, discrete choice experiment may be a useful means of gauging patient preference</p><p>© Shutterstock</p></caption><graphic xmlns:xlink="" xlink:href="graphic/j_jhp-2022-0006_fig_007.jpg"/></fig></p></sec> </abstract>ARTICLEtrue of care ultrasonography in patients with haemophilia and acute haemarthrosis: a physiotherapist and sonographer inter-professional agreement pilot study<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title><p>Haemophilia treatment centres (HTCs) around the world are increasingly adopting point-of-care ultrasonography (POCUS) for the assessment of acute haemarthrosis and to monitor joint health. POCUS is in large part administered by physiotherapists in most comprehensive care teams. Appropriate implementation of haemophilia-specific POCUS requires an educational foundation and training to ensure competency and optimal outcomes. Inter-professional agreement and evaluation of image quality are important measures of competency and acceptable use of POCUS.</p></sec> <sec><title style='display:none'>Aims</title><p>To determine the level of agreement between physiotherapist and sonographer-performed POCUS scans and to compare the quality of the ultrasound images obtained by physiotherapists to those obtained by the sonographer.</p></sec> <sec><title style='display:none'>Methods</title><p>This single blind, prospective, pilot study recruited patients with haemophilia A and B who presented to clinic with a suspected acute haemarthrosis of the elbow, knee, or ankle and consented to participate. POCUS scans were performed by one trained physiotherapist and one sonographer in the haemophilia ambulatory clinic at patient presentation, one-week follow-up, and two-week follow-up. The physiotherapist participated in formal training consisting of 12 hours of online didactic modules and a two-day, 12-hour practical module with instructor-led hands-on training. For the primary objective, the outcome of interest was the binary decision on the presence or absence of blood within the joint. For the secondary objective, image quality was evaluated by the radiologist post hoc and rated as optimal, acceptable, or sub-optimal.</p></sec> <sec><title style='display:none'>Results</title><p>Thirteen participants with haemophilia consented to the study. The results indicated an excellent level of agreement (k=0.80) with an observed agreement of 91.7%, a specific positive agreement of 94.1%, and a specific negative agreement of 85.7% for the detection of blood within the joint space. The quality of the ultrasound images obtained by the physiotherapist were rated by the radiologist as optimal (84.6%) and acceptable (15.4%). None of the images were rated as sub-optimal.</p></sec> <sec><title style='display:none'>Conclusion</title><p>Optimal image quality and a high level of agreement between the physiotherapist and sonographer-performed POCUS for the assessment of acute hemarthrosis in people with haemophilia A and B was observed. These results suggest that, with a short formal training programme, physiotherapists can be proficient in the performance, acquisition, and interpretation of POCUS scans in patients with haemophilia.</p></sec> </abstract>ARTICLEtrue of a patient with severe haemophilia A presenting with left extra pleural haematoma and diagnosed with inhibitors – case report<abstract> <title style='display:none'>Abstract</title> <p>Haemophilia is an inherited X-linked bleeding disorder characterised by a deficiency or absence of clotting factor VIII (haemophilia A) or IX (haemophilia B), which can cause musculoskeletal bleeding. The standard treatment for haemophilia is with factor concentrates to replace the missing or deficient clotting factor. However, there is a risk that the immune system develops antibodies against the exogenous factor, known as inhibitors. Managing patients with haemophilia and inhibitors who develop bleeding in unusual sites can be challenging for the treating physician. Here, we present a rare case of patient with severe haemophilia A who was diagnosed with inhibitors after developing bleeding in the left posterior chest wall (extra pleural haematoma). The patient was successfully managed with activated prothrombin complex concentrate (aPCC) (FEIBA: FVIII inhibitor bypassing activity; Baxter AG), and the pain and swelling gradually resolved over three weeks. This case emphasises the importance of clinical suspicion of inhibitor formation in a patient already diagnosed with haemophilia A presenting with unusual bleeding that does not respond to standard treatment.</p> </abstract>ARTICLEtrue of decision-making considerations to support equitable patient selection in paediatric haemophilia trials<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>Clinical trials for investigational haemophilia treatments such as gene therapy offer a potentially life-changing opportunity to those who are selected for enrolment. However, the number of enrolment slots available for these trials is often greatly exceeded by the number of eligible patients. Many of the strategies that are commonly used to select candidates for participation can be highly unsystematic, inequitable, and subjective. A more rigorous set of criteria is therefore needed to evaluate each candidate's suitability for trial participation in order to eliminate bias in selection and fulfill the ethical principle of justice.</p> </sec> <sec><title style='display:none'>Aims</title> <p>To review current knowledge and issues in patient selection for paediatric haemophilia clinical trials with competitive availability, and to develop a more objective standard for decision-making that takes into account the needs of all involved parties.</p> </sec> <sec><title style='display:none'>Methods</title> <p>A literature search on the ethics of trial participant selection and the practice of fairly distributing limited medical resources was conducted to identify previous literature and best practices in the area. A list of essential decision-making considerations was then designed to guide the selection of paediatric participants for haemophilia therapy trials through iterative group discussions between a diverse team of health professionals at McMaster Children's Hospital, Hamilton, ON, Canada.</p> </sec> <sec><title style='display:none'>Results</title> <p>Current practices in resolving this ethical issue are highly heterogenous, although there are some common themes and recommendations. The three main criteria supported by the team and the literature search for inclusion in the considerations were: medical need, need for support, and potential safety considerations for the patient. Three measures for evaluating each criterion were developed and added for consideration during the decision-making process. The role of patient selection in meeting the scientific aims of the trial was also considered.</p> </sec> <sec><title style='display:none'>Conclusion</title> <p>Attempting to create an equitable, systematic decision-making procedure for clinical trial participant selection involves a wide variety of competing values and ethical considerations, and discrepancies between recommendations are commonplace. The criteria presented here are intended to be used as a guideline to assist the equitable selection of paediatric patients for participation in haemophilia clinical trials with highly limited enrolment, although it may have some applicability to other areas of clinical research or therapeutic areas concerned with the allocation of scarce medical resources. Next steps should involve speaking with patients, community members and other stakeholders in order to include their perspectives.</p> <fig id="j_jhp-2022-0007_fig_001" position="float" fig-type="figure"> <caption><p>Assessment of medical need, potential support needs, and safety considerations form the basis of criteria for discussions around how to make enrolment in paediatric haemophilia clinical trials more equitable</p><p>© Shutterstock</p></caption> <graphic xmlns:xlink="" xlink:href="graphic/j_jhp-2022-0007_fig_001.jpg"/> </fig> </sec> </abstract>ARTICLEtrue challenges for hub and spoke models of care – A report from the 1st workshop of the EHC Think Tank on Hub and Spoke Treatment Models<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>The hub and spoke model can deliver high quality care to a scattered population through centres of expertise supported by a network of several smaller geographically dispersed centres. This approach is now being proposed to provide care for people with rare diseases, and in particular for rare bleeding disorders. To ensure that specialised treatments such as gene therapy can be delivered effectively using the hub and spoke model of care, it is important to understand the challenges that the model presents for all stakeholders.</p></sec> <sec><title style='display:none'>Identifying key challenges</title><p>As part of the EHC Think Tank Workstream on Hub and Spoke Treatment Models, 14 stakeholders representing health care providers, patient groups, research and industry met in November 2021 to identify challenges in the design, implementation and sustainable operation of hub and spoke models, and to propose ways in which resources could be allocated and collaboration fostered, from each of their stakeholder perspectives. Five key challenges were identified: 1. How future care might be re-envisioned; 2. Which agencies and stakeholders should determine which centres become hubs or spokes, and how this process might be carried out; 3. Identifying the criteria that will define a hub and spoke, and the roles of various stakeholders in that process; 4. How resources might be allocated; 5. How hubs and spokes will collaborate to ensure that patients' needs are prioritised. This model may also be recommended for treatment with gene therapy in certain rare diseases.</p></sec> <sec><title style='display:none'>Summary</title><p>Hub and spoke models should be implemented by establishing criteria for hub and spoke status, prioritising patients in service reorganisation and in the care pathway, and considering the impact of new service models on current arrangements. The next step is to vet the challenges identified by this workstream with a broader group of external stakeholders and bring their perspectives back for consideration.</p></sec> </abstract>ARTICLEtrue bilateral pseudotumour of the thumb in severe haemophilia A – A case report<abstract> <title style='display:none'>Abstract</title> <p>Pseudotumour is a rare complication of haemophilia, categorised as osseous or non-osseous (soft tissue) lesions based on anatomic location. The bones most frequently involved are the larger ones; pseudotumours of small bones are rare. Here we present a rare case of pseudotumours of both thumbs in a 10-year-old male with severe haemophilia A, successfully treated with factor replacement therapy. This case highlights the possibility of treating such cases conservatively, but also the need for education to enable early intervention to prevent potential complications that could be life-threatening.</p> </abstract>ARTICLEtrue agency: key questions and challenges – A report from the 1st workshop of the EHC Think Tank Workstream on Patient Agency<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>Patient agency refers to the abilities and capabilities of patients to act, contribute, influence and make decisions about their healthcare. It depends on both the willingness of patients to participate and the constraints imposed by healthcare providers, services and systems. To determine the factors affecting patient agency, especially for patients with chronic, rare diseases such as haemophilia requiring lifelong care, it is important to consider the patterns, structures, and mental models that define the ecosystem that patients are a part of, irrespective of their level of engagement.</p></sec> <sec><title style='display:none'>Identifying key challenges</title><p>At the first workshop of the EHC Think Tank Workstream on Patient Agency in December 2021, participants identified five key themes for in-depth discussion relevant to patient agency: the concept of shared decision-making (SDM), patient empowerment, the spectrum of engagement, cultural change and health literacy. The Iceberg Model was used to unpack challenges by identifying composite factors on four levels: events, patterns, structures and mental models.</p></sec> <sec><title style='display:none'>Summary</title><p>Across the five themes, four common perceived challenges stand out: uneven relationships between patients and healthcare professionals, services and systems; paternalism and hierarchical cultures; failure to recognise problems; conservatism and resistance to change. Despite some progress towards patient empowerment, a ‘glass ceiling’ prevents patients from driving transformation and taking leadership roles in strategy, policymaking and governance. Patient engagement is fluid and those who could benefit most are least likely to engage. Health literacy is perceived as the problem of the patient, not the system, and patients rather than healthcare providers are typically expected to adapt. Preliminary suggestions for addressing these challenges include behavioural communication training for patients and healthcare professionals, a learning system for empowered patient and family care, and a level playing field for stakeholders to interact equally, leading to mutual acceptance and respect.</p></sec> </abstract>ARTICLEtrue challenges for an expanding generation of older persons with haemophilia<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Background</title> <p>Increasing survival among people with haemophilia means that more individuals are at risk of developing age-related morbidity. Little is known about morbidity and health-related quality of life (HRQoL) in different age groups within a single large population of people with haemophilia.</p> </sec> <sec><title style='display:none'>Aim</title> <p>This study aimed to explore the association between increasing age and comorbidity among people with haemophilia and to compare their HRQoL with that of a sample of the general population in England.</p> </sec> <sec><title style='display:none'>Methods</title> <p>The prevalence of comorbidity recorded in medical records and HRQoL assessed by EQ-5D were compared by age group in participants in the Cost of Haemophilia in Europe: A Socioeconomic Survey study (CHESS) in Europe. HRQoL was compared with that of a sample of the general population taken from the 2012 Health Survey for England (HSE).</p> </sec> <sec><title style='display:none'>Results</title> <p>Younger adults in CHESS were more likely to have received prophylaxis from an early age. The mean number of affected joints in younger adults was 1.0; participants aged 41–50 (1.25) and 51–60 years (1.41) had the highest mean number of affected joints. The prevalence of comorbidity was 36% in patients aged 18–30, 61% in 31–60-year-olds and 68% in those aged 61+. HRQoL impairment in young adults with haemophilia was comparable with that in the HSE population aged over 60.</p> </sec> <sec><title style='display:none'>Conclusions</title> <p>Older people with haemophilia have impaired quality of life compared with younger adults and an increasing prevalence of several age-related disorders affecting mental health and cardiovascular and bone health. Young adults with haemophilia report impaired HRQoL comparable with that in a general population aged 61+.</p> </sec> </abstract>ARTICLEtrue