rss_2.0The Journal of Haemophilia Practice FeedSciendo RSS Feed for The Journal of Haemophilia Practice Journal of Haemophilia Practice Feed 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 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 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 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 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 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 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 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 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 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“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 challenges for patient registries – A report from the 1 workshop of the EHC Think Tank Workstream on Registries<abstract> <title style='display:none'>Abstract</title> <sec><title style='display:none'>Introduction</title><p>Patient registries are an invaluable resource for furthering the understanding of rare diseases such as bleeding disorders, providing large, pooled datasets not achievable by other means of data collection. As well as supporting clinical care and research, registries must also be able to answer questions that are important to the wider bleeding disorders community. However, there are challenges associated with the need for secure access, exchange of health data, quality and interoperability, and data delivery.</p></sec> <sec><title style='display:none'>Identifying key challenges</title><p>As part of the EHC Think Tank Patient Registries Workstream, 17 stakeholders representing health care providers, patient groups, research and industry met in October 2021 to identify challenges to managing and utilising patient registries, from each of their stakeholder perspectives. This is a first step in a longer term process aiming to identify or co-create solutions that could improve access and interpretation of patient data. The challenges identified relate to five key categories which are interlinked in various ways: 1. The multiplicity of registries and datasets; 2. Data quality; 3. Data sharing; 4. Expanding the scope of registries; 5. The role of the patient in registries.</p></sec> <sec><title style='display:none'>Summary</title><p>The heterogeneity in the way that registries are designed, funded and owned, the type of data collected, and the way data is collected are issues that must be addressed. Good, quality data is needed at all levels to ensure the provision and funding of effective care. Data quality will increase overall if it is possible to merge data from different registries. The value of patient participation in registries must also be acknowledged and built on to help ensure their quality, that they remain fit for purpose, and that data input is sustained over time.</p></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