Canadian Hemophilia Society

The results of the discussion at the Expert Council of modern aspects of assessing risk factors for venous thromboembolic complications, as well as their prevention and treatment during pregnancy and the postpartum period, are presented. Proposals have been adopted for their inclusion in the clinical recommendations of the next revision.

INTRODUCTION:Treatment options are expanding for von Willebrand disease (VWD). A core outcome set (COS)-a minimum set of agreed-upon outcomes to be used in every clinical trial for a given condition-provides guidance on which outcomes are most important to measure to ensure necessary data is collected for a variety of stakeholders and enable comparison across products and trials. AIM:coreVWD aimed to develop a COS for trials for prophylaxis and perioperative treatments for VWD. METHODS:A modified Delphi consensus process was used to condense/prioritize a long list of potential outcomes. Over three Delphi rounds, a multi-stakeholder panel (patients, clinicians, pharmaceutical company representatives, HTA organizations, payer, and government organization representatives) rated each outcome from 1 (not important to include in a COS) to 9 (essential to include). Outcomes were eliminated or retained based on pre-determined criteria; a special provision to elevate patient priorities was included. An in-person consensus meeting was held after Delphi round 2. RESULTS:Thirty-nine panellists participated. The final COS for prophylaxis treatment included 18 outcomes, seven of which are part of a special subset selected for women, girls and people with the potential to menstruate. There were 11 outcomes in the final perioperative branch COS. Six outcomes overlapped both COS. CONCLUSIONS:The coreVWD COS represents a consensus list of outcomes for clinical trials for both factor and non-factor VWD therapies. These outcomes will be useful across the lifecycle of a product, from clinical development through regulatory and market access phases and into patient-provider decision-making.

The history of hemophilia is well documented, yet reports focus heavily on the male perspective and severe forms of the disease. Although hemophilia was initially believed to only affect men with women seen as silent carriers, it is now universally acknowledged that women and girls can also be affected. In this narrative review, we tracked the progression of beliefs about women and hemophilia as documented in the literature from pre-1800s to the present time. We present a timeline of evolving beliefs and testing practices and identified 9 distinct time periods when key shifts occurred related to various scientific discoveries. Our review highlights how women affected by hemophilia experienced complete dismissal of their health issues despite evidence of bleeding symptoms as early as the 1900s. We identified 1990 as a major timepoint for shifting beliefs when large scale acknowledgment that hemophilia also affects women is documented and systematic testing for bleeding risk is first suggested. Women evolve from being seen as unaffected genetic transmitters only, to being recognized as a population affected by hemophilia in unique ways requiring timely testing and effective treatment. Yet, despite this clear progress, recent publications continue to document many persistent issues such as delayed diagnosis, untreated symptoms, and barriers to care. Ongoing research and advocacy efforts are required to improve knowledge translation until real-world outcomes are seen in screening, diagnosis, treatment, and prevention of bleeding.

Introduction: Gene therapies (GT) present a transformative promise for persons with hemophilia, potentially offering a long-term solution to improve patient care and experiences. However, in publicly funded systems, GT's promise will fall short if stakeholders' preparedness, capacity, and perceptions are not proactively examined to address barriers that might delay and limit its equitable access. Therefore, this study aims to examine healthcare professionals' (HCPs) perspectives on their readiness, motivation, and capacity to implement and use GT within Canadian Hemophilia Treatment Centres (HTCs). Methods: We conducted a cross-sectional online survey of HCPs across all Canadian HTCs, developed using the R=MC2 framework for organizational change. In this framework, organizational readiness is described as a function of the motivation and collective capacity to adopt and sustain an innovation, which in this context refers to hemophilia GT. We conducted cognitive pretesting and pilot testing to examine validity. We distributed the survey through each Canadian professional organizations involved in hemophilia care. Data were analyzed using descriptive statistics for quantitative data and coding into categories for qualitative data. Results: A total of 45 HCPs completed the survey from 80.1% (21/26) of Canadian HTCs, with a median experience in hemophilia care of 8 years (interquartile range [IQR] 5-15). Respondents included nurses/nurse practitioners (47.7%), physicians (37.8%), physiotherapists (8.9%), social workers (4.4%), and pharmacists (2.2%). All provinces were represented with the highest participation from Ontario (40%). Perceived Need, Benefits and Acceptance: Most respondents (76%) supported the integration of GT into the Canadian healthcare system, with a more favourable outlook for hemophilia B. Respondents identified a greater perceived need for GT in hemophilia B (76%) compared to hemophilia A (64%) and expressed higher confidence in the sufficiency of clinical evidence for hemophilia B GT (76%) versus hemophilia A (47%). Additionally, patient acceptance was perceived to be higher for hemophilia B given the current treatment landscape. Preparedness and Resources for GT Adoption: Despite their support, respondents raised concerns about HTCs' readiness, including insufficient human resources, patient education and support mechanisms, and clinical capacity for intensive post-GT monitoring. Only 20% felt their HTC had sufficient human resources, stressing needs for more nursing and psychosocial support. Respondents felt unprepared for GT implementation, highlighting low confidence in their HTC expertise and considerable educational gaps and needs, particularly from non-physicians. Careful Candidate Selection for GT: Suitable candidates were characterized by adherence to monitoring and treatment, minimal comorbidities specific to the risks of hepatotoxicity and/or corticosteroids related toxicities, and strong psychosocial stability or support system. Conversely, candidates with significant liver disease or metabolic health issues, poor adherence, psychological distress, and logistical barriers-such as difficulty in traveling to HTC or frequent clinic visits-were deemed less or not suitable. HTCs Coordination and Collaboration: Traditional hub-and-spoke models might not fit Canadian context. Varying opinions were noted regarding shared and individual responsibilities between HTCs. To enhance collaboration and workflow processes, respondents highlighted the need for national guidelines on patient selection, monitoring, and adverse event management. Establishing a national GT advisory group was supported by 67% of the 14 HTC directors, reflecting the need for centralized expertise and guidance. Conclusion: The successful integration of GT into hemophilia care in Canada requires addressing significant logistical, educational, and system-level barriers, enhancing support mechanisms and HTC resources, and ensuring careful candidate selection and coordination. Enhanced training for HCPs, clear clinical guidelines and protocols, and improved patient support mechanisms are essential to fully realize the potential of GT. Establishing a national GT advisory group and leveraging patient registries for long-term monitoring could facilitate the effective and equitable delivery of GT across Canada.