A 360-degree perspective on adeno-associated virus (AAV)-based gene therapy for haemophilia: Insights from the physician, the nurse and the patient.

BACKGROUND: Adeno-associated virus (AAV)-based gene therapy for haemophilia has advanced substantially in the last 13 years; recently, three products have received approvals from regulatory authorities. Although the impact on quality of life seems promising, some limitations remain, such as the presence of pre-existing anti-AAV neutralising antibodies and the occurrence of hepatotoxicity. This review follows the CSL Behring-sponsored symposium at the 27th Congress of the European Hematology Association (EHA) 2022 that examined the haemophilia gene therapy process from a 360-degree multidisciplinary perspective. Here, the faculty (haematologist, nurse and haemophilia patient) summarised their own viewpoints from the symposium, with the aim of highlighting the key considerations required to engage with gene therapy effectively, for both patients and providers, as well as the importance of multidisciplinary collaboration, including with industry. RESULTS: When considering these new therapies, patients face a complex decision-making process, which includes whether gene therapy is right for them at their current stage of life. The authors agreed that collaboration and tailored education across the multidisciplinary team (including patients and their carers/families), starting early in the process and continuing throughout the long-term follow-up period, is key for the success of gene therapy. Additionally, patient expectations, which may surround eligibility, follow-up requirements and treatment outcomes, should be continually explored. During these ongoing discussions, transparent communication of the unknown factors, such as anticipated clotting factor levels, long-term factor expression and safety, and psychological changes, is critical. To ensure efficiency and comprehensiveness, clearly­defined protocols should outline the whole process, which should include the recording and management of long-term effects. CONCLUSION: In order to engage effectively, both patients and providers should be familiar with these key considerations prior to their involvement with the haemophilia gene therapy process. The future after the approval of haemophilia gene therapies remains to be seen and real-world evidence is eagerly awaited.

The role of the specialist nurse in comprehensive care for bleeding disorders in Europe: An integrative review.

INTRODUCTION: Managing bleeding disorders (BDs) is complex, requiring a comprehensive approach coordinated by a multidisciplinary team (MDT). Haemophilia nurses (HNs) play a central role in the MDT, frequently coordinating care. As novel treatments bring change to the treatment landscape, ongoing education and development is key. However, understanding of the roles and tasks of HNs is lacking. AIM: The EAHAD Nurses Committee sought to identify and describe the roles and tasks of the European HN. METHODS: A five-step integrative review was undertaken, including problem identification, literature search, data evaluation, data synthesis and presentation. Relevant literature published from 2000 to 2022 was identified through database, hand and ancestry searching. Data were captured using extraction forms and thematically analysed. RESULTS: Seven hundred and seventy-seven articles were identified; 43 were included. Five main roles were identified, with varied and overlapping associated tasks: Educator, Coordinator, Supporter, Treater and Researcher. Tasks related to education, coordination and support were most frequently described. Patient education was often 'nurse-led', though education and coordination roles concerned both patients and health care practitioners (HCPs), within and beyond the MDT. The HN coordinates care and facilitates communication. Long-term patient care relationships place HNs in a unique position to provide support. Guidelines for HN core competencies have been developed in some countries, but autonomy and practice vary. CONCLUSION: As the treatment landscape changes, all five main HN roles will be impacted. Despite national variations, this review provides a baseline to anticipate educational needs to enable HNs to continue to fulfil their role.

The state of oral health in patients with haemophilia in the Netherlands.

INTRODUCTION: Previous studies show contradictory outcomes regarding dental, gingival and periodontal status in persons with haemophilia (PWH) compared to healthy controls. PWH may experience disease-specific barriers to access dental care due to their bleeding tendency, which may lead to delays in oral care and severe dental problems. AIM: To determine the current subjective and objective oral health status in adult PWH. METHODS: Randomly selected PWH of the Erasmus MC Haemophilia Treatment Center (HTC), Rotterdam, the Netherlands, were invited to participate. Data was collected using the Oral Health Impact Profile (OHIP-14NL) and personal interviews. A dentist used the DMFT index, the Dutch Periodontal Screening index (DPSI), plaque and bleeding index to score the dental status. RESULTS: Forty-eight adult PWH were included in this study, 20 mild, 15 moderate-severe and 13 severe haemophilia with a mean age of 44.7. PWH scored low on the OHIP-14 questionnaire (median total score 1.0; IQR .0-3.0), indicating a high self-rating oral health status. The number of bleeding events, bleeding- and plaque index score was not statistically significant between patients with mild, moderate or severe haemophilia. The mean number of decayed, missing, and filled teeth (DMFT-score) was significantly lower in the group of patients with severe haemophilia (median 2.0) compared to mild haemophilia (median 16.0) (p = .04). Twenty-five patients (52.1%) reported to have encountered bleeding problems during or after dental interventions during their lifetime. CONCLUSION: Dutch adult PWH A/B have good dental status and oral health status.