rss_2.0The Journal of Haemophilia Practice FeedSciendo RSS Feed for The Journal of Haemophilia Practice Journal of Haemophilia Practice Feed, Caring, Learning - Thinking outside the box to solve care challenges in a rare blood disorder<abstract> <title style='display:none'>Abstract</title> <p>A specialist nurse for over 20 years, Sandra reflects on her experience of finding ways to deliver effective care for a young girl with a very rare clotting disorder. Symptoms of the girl’s disorder were evident from birth and through an emergency use request Sandra and the care team enabled her family to access a treatment that at the time was in clinical trial. Poor venous access meant there was a need to adapt how treatment was administered and she worked with the girl’s parents to ensure that she was treated effectively. Alongside educating the parents, Sandra highlights the importance of her role in educating co-workers and other hospital staff likely to come into contact with the girl, to ensure that she always had access to timely and appropriate care. She also reflects on other instances where thinking creatively enabled patients in her care access to treatments that may not otherwise have been accessible. Now retired, Sandra continues to be involved in advocacy for people with bleeding disorders.</p> </abstract>ARTICLEtrue change in practice: A report from the EHC Think Tank workstreams on Registries and Patient Agency<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>System change addresses the fundamental causes of persistent, complex problems to achieve large-scale, sustainable solutions at multiple levels. Recognising the need for system change to ensure equitable access to healthcare for people with bleeding disorders and other rare diseases, the European Haemophilia Consortium (EHC) established a Think Tank to work alongside its traditional advocacy initiatives. The Think Tank has mobilised a broad range of healthcare stakeholders to identify challenges and co-create potential solutions through a series of thematic workstreams exploring specific aspects of the healthcare system. This paper reports on outcomes and learnings from the Registries and Patient Agency workstreams.</p> </sec> <sec> <title style='display:none'>Methodology/Process</title> <p>During a series of online meetings and face-to-face discussions, workstream stakeholders contributed to a three-phase process: 1. Discovery; 2. Strategy; 3. Innovation. Having identified key challenges to system change for Registries and Patient Agency, stakeholders mapped the system in which they were working to refine the challenges, recognise enablers and constraints to progress, and use leverage points to co-create strategies for change.</p> </sec> <sec> <title style='display:none'>Results</title> <p>The Registries workstream prioritised actions to address challenges around lack of common purpose and data quality, and agreed to move forward with developing a consensus statement to facilitate buy-in from key stakeholders, working on good governance for registries, hosting a network for registry owners, and creating a model for patient data input and feedback. A Registries Roadmap was completed for 2025 and 2030, and a project initiated to align registries in Europe. The Patient Agency workstream agreed actions should focus on challenges related to the role of the patient, recognising the need to elevate patient influence in all aspects of the healthcare system. Actions aimed to address the current stakeholder hierarchy and gaps in patient health literacy, and to optimise the potential of digital tools to enable patient contributions to patient-reported outcome and experience measures (PROMs and PREMs). Projects include developing a patient agency guidebook and a patient experience data (PED) dossier on von Willebrand disease, to provide a one-stop repository for regulators, researchers, clinicians and patients.</p> </sec> <sec> <title style='display:none'>Conclusions</title> <p>There is a clear need for system change to ensure equitable access to healthcare for people with rare diseases such as bleeding disorders. Bringing together multiple stakeholders with different and complementary knowledge and approaches has facilitated the development of innovative strategies for system change in relation to Registries and Patient Agency. Work has started on pilot projects to move these strategies forward.</p> </sec> </abstract>ARTICLEtrue, Caring, Learning - Building family relationships in haemophilia care<abstract> <title style='display:none'>Abstract</title> <p>With over 35 years’ experience of paediatric nursing, almost half of which she has spent in haemophilia care, Robyn reflects on the importance of taking a family-focused approach and engaging with parents and caregivers. She describes her experience of providing care for a family with two boys with severe haemophilia A and inhibitors, and how listening to and working closely with the parents enabled good outcomes. Robyn points to the central role of nursepatient relationship in haemophilia care but highlights the importance of ensuring that this close therapeutic relationship remains professional.</p> </abstract>ARTICLEtrue, Caring, Learning - Changing mindsets and enabling goals for people with haemophilia<abstract> <title style='display:none'>Abstract</title> <p>In a nursing career spanning almost five decades, Anne Louise has spent over 30 years caring for people with haemophilia in South Africa. She reflects on the importance of prophylaxis and how tailoring treatment to meet individual needs not only helps to prevent bleeds but can make goals and aspirations attainable. Describing her experience of how she supported a young man with severe haemophilia in achieving his ambition to become a paramedic, Anne-Louise demonstrates the importance of the nurse-patient relationship and the role of the nurse in providing individualised care. She discusses advocating for prophylaxis and the need to change mindsets, and highlights the need for further change in access to treatments for haemophilia in South Africa. The patient also describes his journey to achieving the level of fitness he needed to undertake the entrance exam to train as paramedic.</p> </abstract>ARTICLEtrue and longer-term goals for change – A report from the 2nd workshops of the EHC Think Tank Workstreams on Access Equity and Future Care Pathways<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>The second series of workshops for the EHC Think Tank Workstreams on Access Equity and Future Care Pathways involved working towards consensus on addressing challenges to progress around achieving equitable access to care and shaping rare disease care pathways that meet patient needs while remaining practicable and affordable to healthcare providers. This report summarises workshop outcomes from these two workstreams, in which stakeholder participants identified a ‘guiding star’ determining the direction of ongoing focus, defined achievable ‘near star’ milestones, and enablers and constraints to achieving these.</p> </sec> <sec> <title style='display:none'>Guiding Stars</title> <p>The Access Equity Workstream proposed focusing on developing a healthcare system that enables patients to benefit from care and treatment fairly and impartially. The Future Care Pathways Workstream agreed that their focus would be on developing care pathways that provide the right intervention at the right time by the right healthcare professional in the right formats with a variety of delivery methods to suit the person.</p> </sec> <sec> <title style='display:none'>Near Stars</title> <p>For the Access Equity Workstream, changes in narrative and behaviour were the achievable milestones that the group agreed to prioritise. Greater stakeholder collaboration and consistent data collection and use will be important enablers for change. Participants proposed greater emphasis on investment and value (instead of cost and return) and a change of mindset from ‘fixing the patient’ to achieving a healthy life through early intervention and preventing comorbidities. However, lack of clarity over what constitutes ‘value’ and around stakeholders' responsibilities, limited outcome measures and resistance to change may constrain progress. A near star for the Future Care Pathways workstream was the development of seamless, personalised care pathways with integrated digital and AI-based technologies to enable real-time measurement of pathway effectiveness. Participants felt that understanding and respecting patient behaviour and the nudges and incentives needed to promote pathway acceptance will be important. As in the Access Equity Workstream, they recognised the role of routine, standardised data collection for measuring outcomes, sharing information and informing decision-making. They predicted that building trust between stakeholder groups (including patients, healthcare providers, academic and life science companies) and using patient networks and advocates effectively would enable collaboration and ensure that patient needs and insights are acted upon. However, financial and legal aspects, inadequate implementation of technological infrastructure, limited systems integration, and lack of stakeholder time, effort and energy are all potential constraints that will need to be addressed.</p> </sec> </abstract>ARTICLEtrue multidisciplinary approach to optimising the virtual management of haemophilia: a roundtable meeting of UK experts<abstract> <title style='display:none'>Abstract</title> <p>The necessity of a multidisciplinary team (MDT) approach in haemophilia care is well recognised globally, with international guidelines advocating this. Prior to the coronavirus disease 2019 pandemic, virtual MDT haemophilia care was gaining support worldwide. However, the pandemic necessitated the rapid implementation of innovative virtual solutions to ensure continued access to multidisciplinary care. A multidisciplinary panel of healthcare professionals who specialise in haemophilia care in the United Kingdom gathered to discuss the following: the current landscape of haemophilia MDT care and best practices, the benefits, challenges, and opportunities for virtual MDT care, managing bleeds remotely, virtual paediatric care, and the future of virtual MDT care. The consensus was that virtual MDT care is widely used, however formats vary depending on the healthcare setting, available resources, MDT preferences, and local policy. Advisors agreed that virtual MDT care has several benefits, such as improved convenience/choice for their patients and wider patient reach. However, many patient-specific and logistical challenges exist. Hybrid care models may provide an opportunity to overcome these challenges. The decision on how bleeds are managed (virtually versus face-to-face) depends on provider preference, the patient-provider relationship, and the patient’s disease severity, history, and ability to self-manage. As such, this should be assessed on a case-by-case basis. Virtual tracking tools cannot be solely relied upon for MDT decisionmaking as patient accuracy cannot be ascertained. The MDT composition for paediatric care should be tailored to the patients’ and their parents’/caregivers’ needs. Lastly, hybridised care will likely be adopted for future haemophilia management and will facilitate the advancement of MDT care.</p> </abstract>ARTICLEtrue the importance of the research nurse and study coordinators in enhancing retention of people with haemophilia in clinical trials<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>For retention in clinical trials of investigational medical products (CTIMPS), the strategy and tactics to keep enrolled participants from discontinuing participation (dropouts) are important. Haemophilia trials often have extended follow-up and require motivated participants who commit for the duration of the study, which may be underestimated at initiation. Study discontinuation may lead to inconclusive results and prolonged trials. Research nurses (RNs) and study coordinators (SCs) play an important role in clinical trials and are considered the link between principal investigator and study participants. We discuss the importance of the RNs and SCs in retention of participants, the barriers and challenges to retention, and the interventions utilised to support it.</p> </sec> <sec> <title style='display:none'>Methods</title> <p>We conducted a 12-question online survey at registration for a virtual research study update summit. The survey investigated the thoughts of RNs/SCs about retention in CTIMPS, their experiences and challenges, and interventions to prevent attrition.</p> </sec> <sec> <title style='display:none'>Results</title> <p>Eighty-seven RNs and SCs from 24 countries (Asia, Australia, Europe, the Middle East and North America) participated. The majority (62/75 responses) reported having 1-5 or 6-10 clinical trial participants (46.6% and 36% respectively); the remainder reported 11-40 trial participants. The majority reported no or few participants dropping out of haemophilia clinical trials in the preceding three years (42.8% and 33.7% respectively). RNs/SCs believed participants dropped out because of ‘loss of interest’ (50%), ‘study going on too long’ (39%), ‘too many visits’ (virtual or at centre) (37.5%), ‘visits are too time-consuming’ (34%) and a ‘lack of time’ (32.8%). Over half of RNs/SCs believed ‘dropouts’ would be higher if they did not make extra efforts in retention. The top interventions to retain participants were: keeping an open dialogue, organising visits to fit participant schedules, discussing adverse events, understanding the protocol, and allowing participants time to ask questions. Retention is achieved through flexibility, timeliness, combining trial activities with routine care, shared decision making and effective communication, including via contemporary technology.</p> </sec> <sec> <title style='display:none'>Conclusion</title> <p>This study investigating the retention role of RNs/SCs revealed low dropout rates in haemophilia trials. RNs/SCs are able to offer flexibility to trial procedures by, for example, scheduling visits within trial timing ‘windows’ to support and facilitate individualised follow-up. Patient-centred care and attention, including trust, attitude and expectations, aid successful retention and trial outcomes. This often unrecognised role is important in supporting people with haemophilia in clinical trials to promote good study outcomes.</p> </sec> </abstract>ARTICLEtrue, Caring, Learning – Addressing challenges in the transition to adult care<abstract> <title style='display:none'>Abstract</title> <p>Greta, a specialist nurse at one of the largest haemophilia treatment centres in the Netherlands, reflects on the role one particular patient played in helping to reshape her centre’s approach to the process of transition from paediatric to adult care. The patient, a young man with severe haemophilia B and an inhibitor, experienced frequent bleeds and venepuncture was sometimes difficult. He continued to be reliant on his mother to administer injections and order his treatment. Greta considers the importance of ensuring young people transitioning to adult care have the knowledge and skills they need to manage their haemophilia while balancing this with the reality of an individual’s circumstances, often including the ongoing role of parents in their lives as supporters and caregivers. She suggests that transition is best approached as a gradual process rather than an event, reflecting on how this helps to build trust between the new health care team and both the patient and their parents. She also points to the importance of supporting parents through the transition process as needed. Greta is clear that an approach to care that seeks to understand individuals and acknowledges the feelings of everyone involved can make a difference in enabling successful transition to adult care and in patient care more generally.</p> </abstract>ARTICLEtrue, Caring, Learning – Trust and teamwork in patient care<abstract> <title style='display:none'>Abstract</title> <p>Marcela, a nurse specialist in Brazil, reflects on the importance of trust in the therapeutic relationship in achieving the best patient outcomes. She describes her experience with a patient with severe haemophilia A and an inhibitor. The patient was non-adherent to his treatment regimen and immune tolerance induction (ITI) failed. At a time when he was experiencing increasing joint problems and pain due to bleeding, the treatment centre was approached regarding a clinical trial of a novel non-factor replacement therapy. Following discussion among members of the care team and with the patient, a decision was made to put him forward for the trial, despite concerns about his ability to adhere to the trial treatment regimen. The patient completed the trial, his quality of life improved and he continues to have prophylaxis with emicizumab. Marcela goes on to reflect on the role this new treatment likely played when the patient was involved in a serious accident and the surgeries that followed. She highlights the importance of not giving up on patients who present a challenge and working closely together with treatment centre colleagues to achieve the best care for individual patients.</p> </abstract>ARTICLEtrue associated with delays in seeking treatment for acute bleeding among persons living with haemophilia in Uganda: a cross-sectional mixed methods study<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>Haemophilia is associated with a high tendency of acute bleeding episodes which can lead to severe morbidity and mortality in the absence of prompt care. Although delay in seeking care can lead to adverse outcomes, many people with haemophilia (PwH) in Uganda do not report to haemophilia treatment centres (HTCs) for treatment in the event of acute bleeding within the two hours recommended by the World Federation of Hemophilia (WFH). Information on factors associated with delays in seeking care is limited.</p> <fig id="j_jhp-2023-0018_fig_005" position="float" fig-type="figure"> <caption> <p>A study among people with haemophilia presenting at five regional treatment centres across Uganda found transport costs is a major issue impacting treatment seeking for acute bleeds</p> </caption> <graphic xmlns:xlink="" xlink:href="graphic/j_jhp-2023-0018_fig_005.jpg"/> </fig> </sec> <sec> <title style='display:none'>Aims</title> <p>This study aims to determine the extent and factors associated with delays in seeking treatment for acute bleeding among people with haemophilia (PwH) in Uganda to inform appropriate mitigating stratregies and hence improve health outcomes and quality and life.</p> </sec> <sec> <title style='display:none'>Methods</title> <p>The study was conducted in five haemophilia treatment centres (HTCs) across Uganda and used a cross-sectional design with mixed methods of data collection. PwH seeking care at the HTCs for acute bleeding episodes were consecutively sampled. A pre-tested questionnaire was used to collect data. Alongside this, qualitative interviews explored health workers’ perceptions of factors associated with delays in seeking treatment among patients. Health workers were purposively selected. The quantitative data were analysed using STATA version 16; qualitative data were analysed manually using inductive thematic analysis to generate codes, categories, sub-themes and themes. Multivariate modified Poisson regression analysis was used to determine factors associated with delay to seeking treatment at HTCs.</p> </sec> <sec> <title style='display:none'>Results</title> <p>224 male PwH, aged 1 to 67 years (median 11 years) were included in the analysis. The time taken following an acute bleeding symptom to attending the HTC ranged between 1 and 65 hours, with a median of 9 hours. PwH were more likely to delay seeking treatment for acute bleeding episodes if they used public means of transport to the HTC (aPR 1.39; 95% CI 1.22-1.59). PwH who took immediate other actions on recognition of a sign of an acute bleeding episode were less likely to delay seeking treatment at the HTC (aPR 0.75; 95% CI 0.66-0.84).</p> </sec> <sec> <title style='display:none'>Conclusion</title> <p>Delays in seeking treatment among PwH in Uganda are the result of an interplay between individual and health system factors. Continued information and education programmes are needed to ensure PwH and caregivers understand the benefits of early treatment-seeking, alongside expanding HCP knowledge and capacity building. Mobile clinics and home therapy could reduce travel and waiting times for those needing to access treatment. Addressing these issues could help to provide a level of care for PwH that helps to ensure improved quality of life and better health outcomes.</p> </sec> </abstract>ARTICLEtrue X deficiency: a comment on two recent case studies<abstract> <title style='display:none'>Abstract</title> <p>Hereditary factor X deficiency (HFXD) is a rare genetic bleeding disorder, affecting approximately 1 in 1,000,000 individuals globally, and resulting in abnormally low activity of clotting factor X (FX). Diagnosis may occur early in life, particularly in patients with a family history of the disorder or severe deficiency, or later in life for those with mild-moderate deficiency. Regardless of age at diagnosis, this disorder can significantly impact the lives of patients, as well as those of caregivers and/or family members. Alongside a wide historical array of HFXD treatments, including supportive care with blood transfusions, FX replacement with fresh frozen plasma or prothrombin complex concentrates, specific replacement has been made possible with the isolation and concentration of human plasma-derived FX for therapeutic use, offering the potential for a streamlined prophylactic regimen and improved quality of life and wellbeing. Two recent case studies describe the diagnosis and management of children with HFXD in India and the Philippines, both of whom were diagnosed in infancy following severe bleeding episodes. They share important similarities but highlight key differences in the experience of diagnosis and management of HFXD. Together they illustrate the lack of a specific target population subgroup for this rare but serious bleeding disorders, and the importance of checking FX levels (among other clotting factors) when prothrombin time (PT) and partial thromboplastin time (PTT) are prolonged.</p> </abstract>ARTICLEtrue experiences of mothers of children with severe haemophilia in Iranian culture: A phenomenological study<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>Caregiving for children with haemophilia is a critical role that requires vigilance and significant lifestyle change, impacting on social activities, physical and psychological health and emotional experiences.</p> </sec> <sec> <title style='display:none'>Aim</title> <p>To explore the lived experience of mothers in Iran as caregivers of boys with severe haemophilia, focusing specifically on their psychological challenges.</p> </sec> <sec> <title style='display:none'>Methods</title> <p>This phenomenological study forms part of a larger study exploring psychological difficulties and social interactions of mothers of boys with haemophilia (BWH) in Iran. Semi-structured in-depth qualitative interviews were conducted with the biological mothers caring for one son with severe haemophilia A or B. Interview questions focused on challenges related to treatment, medication, prophylaxis and their interactions with HCPs, including the mothers’ feelings and coping mechanisms, and were adjusted to the Iranian cultural context. Participants were recruited from Mofid Comprehensive Care Centre for Children with Haemophilia (MCCCCH) in Tehran. Data analysis was based on van Manen’s six-step framework, using MAX.QDA software (2020), to identify themes. Findings were triangulated with findings from interviews with HCPs at MCCCCH about their perceptions of the challenges the mothers experience.</p> </sec> <sec> <title style='display:none'>Results</title> <p>Fifteen mothers of BWH were interviewed, most of whom had no or an unknown family history and no previous knowledge of haemophilia. Five themes and 27 subthemes of psychological experiences were identified. Themes included Daily emotional experiences; Challenge of acceptance; Defence mechanisms; Coping strategies (Emotion-focused and Problem-focused); and Positive expectations of the future. The most notable findings related to Daily emotional experiences and Defence mechanisms. Emotional reactions were diverse and included depression, fear and regret. Participants used a variety of defence mechanisms, including rumination and avoidance to try and overcome their situation.</p> </sec> <sec> <title style='display:none'>Conclusion</title> <p>If informed properly about medical issues and enabled to gain insight into their psychological responses, mothers of children with haemophilia in Iran may be able to better regulate emotional complexities and handle disappointment or unrealistic expectations, thereby enhancing their quality of life. There is a need for psychological services in haemophilia care in Iran that needs to be addressed in order to better support the wellbeing of patients and their families. This psychological supportive care should be informed by culturally appropriate guidelines and could be extended to similar communities in the Middle East.</p> </sec> </abstract>ARTICLEtrue creative approach to managing a case of haemophilia A with inhibitors in a low-resource country: case report<abstract> <title style='display:none'>Abstract</title> <p>The development of antibodies to therapeutic factor VIII, known as inhibitors, is a leading cause of morbidity and mortality in people with haemophilia. This is particularly challenging in areas where access to novel treatment options is limited. This case report presents a clinical scenario in South Western India involving a 16-year-old male with severe haemophilia A with high titre inhibitors, who sustained a tibia-fibula shaft fracture necessitating emergency surgical intervention. The successful management of this patient required a multidisciplinary approach, encompassing haemostasis optimisation, innovative factor replacement strategies to work around financial constraints, and a comprehensive rehabilitation plan. The patient’s history of multiple factor VIII concentrate transfusions contributed to inhibitor development. Limited funds for bypassing agents prompted the utilisation of fresh frozen plasma to achieve haemostasis before access to FEIBA and recombinant factor VII. Emicizumab, a subcutaneously administered bispecific antibody, was used to assist perioperative haemostasis. A comprehensive rehabilitation plan with regular physiotherapy was followed. Emicizumab prophylaxis was initiated and the patient now shows improvement. This case emphasises the importance of novel treatment options such as FEIBA and emicizumab in dealing with complications in haemophilia such as inhibitors. In resource-limited settings, there is still a need to improve the availability of these life-saving interventions to optimise surgical outcomes in such cases.</p> </abstract>ARTICLEtrue first reported case of factor X deficiency in a Filipino child – case study<abstract> <title style='display:none'>Abstract</title> <p>Factor X (FX) deficiency is an extremely rare inherited bleeding disorder affecting one in 1,000,000 people. According to the most recent published census of the World Hemophilia Federation, to date there is no reported case of FX deficiency in the Philippines. Rare disorders like FX deficiency often go unrecognised or misdiagnosed. Here, we report the first case of FX deficiency in a Filipino child. A two-month-old male child with consanguinity was referred to our hospital due to bleeding episodes. On the third day of life, he had haematomas to the cervical area and upper extremities, and spontaneous bleeding of the umbilical cord was noted. Initial workup showed prolonged PT and aPTT. Factor deficiencies including FVIII and FIX were considered, however assays were normal. At six weeks of age, the child developed convulsions and deteriorating neurologic status. CT scan showed subarachnoid haemorrhage. The child was referred for further workup. Additional assay of clotting factors showed decreased FX activity at less than 1% and he was diagnosed with severe congenital FX deficiency. Following recurrent intracranial bleeding, the child has been observed to have permanent neurological deficit. This case highlights the importance of timely and accurate diagnosis to prevent life-threatening complications and the risk of permanent disability. Despite being an extremely rare disorder, the incidence of FX deficiency is estimated to be higher in populations where consanguineous marriages are common. Awareness of this rare condition must be emphasised. Families may benefit from screening through coagulation studies as well as genetic counselling, especially when planning future pregnancies. The rarity of this condition has not allowed for the establishment of evidence-based management guidelines, with treatment based on limited literature. Despite development of FX-specific clotting factor products, the high cost and limited availability impact their use in low-resource settings.</p> </abstract>ARTICLEtrue Care Pathways – A report from the 1st workshop of the EHC Think Tank Workstream on Future Care Pathways<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>A care pathway is defined as “a complex intervention for the mutual decision-making and organisation of care processes for a well-defined group of patients during a well-defined period.” The European Haemophilia Consortium (EHC) established a Think Tank Workstream on Future Care Pathways to identify and address key challenges in shaping future pathways that meet the needs of people with rare diseases while remaining practicable and affordable to healthcare providers in countries with different budgets and resources. This workstream is particularly timely as the introduction of innovative therapies is adding to the complexity of care pathways in some rare conditions.</p> </sec> <sec> <title style='display:none'>Identifying key challenges</title> <p>During the first virtual workshop of the Future Care Pathways Workstream on 14 February 2023, stakeholders, including healthcare providers, patient groups, researchers, and industry representatives, agreed to focus on four workable themes/challenges: 1. Prioritisation (cost and evidence); 2. Agreeing on a baseline; 3. Digital health; 4. Fragmentation of healthcare.</p> </sec> <sec> <title style='display:none'>Summary</title> <p><bold>Prioritisation</bold> relates to economic and financial challenges in justifying the optimisation of a care pathway for a rare disease within the context of other healthcare priorities. Currently, there is too much emphasis on costs to healthcare systems, and not enough on real-life patient experience and indirect costs to patients and their families. Innovation in pathways is generally considered unaffordable, and cost-effectiveness models are difficult to apply to rare diseases. <bold>Agreeing on a baseline</bold> for a minimum standard of care in a pathway should take into account variability in patient needs, agency and healthcare system resources. A baseline needs to be agreed upon for each stage of a pathway: first clinical presentation, diagnosis, treatment, and monitoring and follow-up. Lack of awareness, gender and resource inequalities and gaps in evidence are among the issues that need to be addressed. <bold>Digital health</bold> holds promise but also brings challenges for future care pathways and must be considered from the viewpoint of all major stakeholders: patients, healthcare providers, tech companies and payers. Digital health systems are often developed in silos and do not allow for effective integration and sharing of data. Collaboration from the beginning is essential to the successful integration of digital tool as in healthcare. <bold>Fragmentation of healthcare</bold> can arise because people with rare diseases may access care pathways through multiple entry points in primary and secondary care, and they may not experience holistic care that takes account of all their needs. Poor communication at multiple levels (e.g. between clinical stakeholders and between clinicians and patients) is a common problem leading to inadequate treatment and care. Fragmentation may also arise when care pathways do not allow for a patient’s evolving needs when he/she is already on a pathway.</p> </sec> </abstract>ARTICLEtrue of a patient with factor X deficiency with FEIBA: a case report<abstract> <title style='display:none'>Abstract</title> <p>Hereditary factor X (FX) deficiency is a rare autosomal recessive disorder that increases bleeding tendencies, ranging from epistaxis to intracranial haemorrhage (ICH), which can be life-threatening. Single factor concentrates are recommended for treating rare bleeding disorders; however, in India most people with FX deficiency are treated with fresh frozen plasma (FFP). We report a case of FX deficiency in a child with a history of intracranial bleeding who was found to have a novel mutation in the F10 gene. Although managed with weekly prophylactic FFP infusions, he continued to experience regular bleeding including two further instances of ICH. Other therapeutic options were unavailable or unaffordable. When the Indian Government added FEIBA to the essential drug list, a decision was made to try FEIBA prophylaxis to better manage his bleeding. In 2019, he was started on a weekly dose of FEIBA, 500 IU (20 IU/ kg and his prophylactic FFP transfusion regimen was stopped. His bleeding episodes started to reduce after two months of starting FEIBA prophylaxis. Over the last three years he has had only four minor bleeding episodes and has remained completely free of major bleeding. He is now able to receive home-based therapy and his prognosis can be considered to be improved. FEIBA may be a useful medicinal therapy for FX-deficient patients who suffer severe haemorrhagic episodes in countries where plasma-derived factor X (pdFX) is not available.</p> </abstract>ARTICLEtrue decision-making for gene therapy in haemophilia care<abstract> <title style='display:none'>Abstract</title> <p>Shared decision-making (SDM) is an important part of patient-centred care in which healthcare professionals (HCPs) and patients/caregivers jointly reach care decisions through a two-way exchange and synthesis of information based on clinical evidence and patient preference. SDM was described in haemophilia care in 2014 as two-sided intervention to aid patient decision-making. However, as the range of haemophilia treatments has expanded, identifying the optimal haemophilia treatment for an individual has become more complex. This is particularly so in the case of gene therapy, a onetime-only, irreversible treatment. In this context, it is vital that people with haemophilia (PwH) and their families continue to be involved in care decisions in an informed and interactive way. For gene therapy, this must include being well informed about the gene therapy process, enabling the patient to engage in fully informed SDM and consent, and ensuring that issues around long-term durability, potential side effects, the need for long-term follow-up are understood with a recognition that the ‘unknown unknowns’ are also unknown to HCPs. Both HCPs and patient organisations have a key role to play in providing PwH with access to relevant information and education, tailored to individual needs and free of jargon. Considerable education and support are required before PwH can make a truly informed decision about having gene therapy. Use of structured SDM tools such as the SHARE approach can help to support this. There is a need for SDM educational tools that include written/visual information and the use of standardised checklists may be helpful for both PwH and HCPs. The most important part of this process is that PwH want to undergo gene therapy – and this is only an option if they are fully educated and informed by fully educated and informed healthcare teams.</p> </abstract>ARTICLEtrue assessment and management in the Moroccan haemophilia population: a prospective descriptive study<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>For people with haemophilia (PwH) who live in developing countries, haemophilia continues to be a condition with serious medical and social consequences. In Morocco, the efforts of patient associations and medical teams have led to the creation of a national programme for haemophilia care since the end of 2012, and the country is no longer solely reliant on World Federation of Hemophilia (WFH) donations for access to factor products. There is growing recognition of the impact of the pain experienced by PwH. To continue to improve treatment for PwH in Morocco, it is important to ensure that they are also able to manage haemophilia-related pain.</p> </sec> <sec> <title style='display:none'>Aims</title> <p>This study aims to describe the prevalence, characteristics, and effects of pain experienced by PwH in Morocco for the first time, in order to increase understanding, and to support consideration of interventions and improvements in care.</p> </sec> <sec> <title style='display:none'>Methods</title> <p>We conducted a prospective, descriptive survey of the experience of pain in PwH attending the Department of Clinical Hematology and Pediatric Oncology in Casablanca, using the Multidimensional Hemophilia Pain Questionnaire (MHQP) approved by the WFH. All PwH with mild, moderate or severe haemophilia and over 18 years of age who presented to the department during the study period were included; consent was obtained. The data collection period lasted 6 months from October 2020 to April 2021.</p> </sec> <sec> <title style='display:none'>Results</title> <p>60 PwH completed the questionnaire (51 haemophilia A, 9 haemophilia B; 38 severe, 22 moderate). All respondents had experienced pain, 90% during the previous year and 75% during the last 3 months. 60% reported the occurrence of pain more than once a week. 65% reported that the right knee was the most painful site in the past year, followed by the right ankle (58%). The right knee was also the site of pain with the most negative impact in the past year. 58% responded that the evening was the time of most intense pain. The therapeutic strategies used against pain were pharmacological and non-pharmacological. 60% of respondents reported using analgesics and 50% reported using coagulation factor substitution for pain relief. Regarding non-pharmacological strategies, rest was reported by 40%, elevation of the painful site/change of position by 20%, and ice by 10%. The majority reported being satisfied or very satisfied with the current treatment of their pain by health professionals.</p> </sec> <sec> <title style='display:none'>Conclusion</title> <p>This study shows that pain is still very present in PwH treated at our haemophilia centre, with a significant impact on different areas of life. There is a need for action to standardise treatment approaches and develop protocols for pain management in PwH.</p> </sec> </abstract>ARTICLEtrue equity: key questions and challenges - A report from the 1st workshop of the European Haemophilia Consortium (EHC) Think Tank Workstream on Access Equity<abstract> <title style='display:none'>Abstract</title> <sec> <title style='display:none'>Introduction</title> <p>The European Haemophilia Consortium (EHC) Think Tank Workstream on Access Equity aims to identify and address the key challenges to ensuring access equity to healthcare services for people with rare diseases. In this context, access refers to the ability to benefit from any given aspect of treatment and care; equity refers to being ‘fair and impartial’ in providing access.</p> </sec> <sec> <title style='display:none'>Identifying key challenges</title> <p>At the first virtual workshop of the Access Equity Workstream, participants representing a wide range of stakeholders, including healthcare providers, patient groups, research, and industry, shared their perspectives to identify the key challenges to achieving access equity. It was agreed to prioritise three challenges: 1. Patient journey and pathways; 2. Behavioural change, mindsets and incentives; 3. Budget and resources. The Iceberg Model was used to identify the factors (events, patterns, structures, and mental models) which should be prioritised for future discussions about potential interventions.</p> </sec> <sec> <title style='display:none'>Summary</title> <p>From an access equity viewpoint, the key events in <bold>the patient journey and pathways</bold> that need to be addressed are access to diagnosis, screening and treatment, taking account of the considerable national, regional and local variation in the availability of specialist expertise, genetic testing and counselling. There will be debate about sharing limited budgets to treat small numbers of people with rare disorders with gene therapy, compared to treating much larger numbers of patients with common diseases with cheaper drugs. In terms of <bold>behavioural change, mindset and incentives</bold>, there is a misalignment of personal, collective, organisational and national needs. Among providers, the ‘savings mindset’ is counterproductive for access equity, and short-termism may result in a restricted allocation of funding for innovative and preventive therapies. Industry mindset is largely transactional instead of outcomes-based and the patient community tends to focus on specific diseases instead of the wider implications for the provision of healthcare services and for society. <bold>Budgets and resources</bold> are key to access equity; reduced/delayed access to expensive new drugs for rare diseases such as haemophilia is a major issue. Cost-effectiveness prioritisation tools used for health technology assessments (HTAs) do not take into account data from small populations, leading to cost-effectiveness ratios that exceed accepted thresholds, and treatments restricted to subgroups of patients within an approved indication. Benchmarking international pricing, service centralisation and cross-border cooperation for delivery of gene therapy need to be addressed if access equity is to be achieved.</p> </sec> </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