“I’d go on a hike with my kids… that would make me feel so happy.” Recognising what people with haemophilia B identify as meaningful when considering personal goals and the potential for gene therapy

Introduction

Historically people with haemophilia B (PwHB) have experienced adverse clinical outcomes including joint bleeds, pain and arthropathy. The current management of severe and moderate haemophilia B in the UK is largely through the use of factor replacement therapy often given as prophylaxis. Despite this, research reveals reduced quality of life (QoL) and psychological burden in PwHB of all severities, highlighting unmet need. Contemporary therapeutic developments including extended half-life factor IX products, novel non-factor agents, and gene therapy offer opportunities to address treatment-related issues and improve QoL. We investigated what PwHB identify as meaningful when considering their personal goals and the potential for gene therapy.

Methods

UK men (aged >16 years) with severe or moderate haemophilia B were invited to take part in a face-to-face workshop or one-to-one online audio recorded interview. The recordings were transcribed verbatim, the transcripts were reviewed and coded using a process of inductive thematic analysis. We then used an iterative process to explore, review, reflect, and refine emergent codes and final themes. Ethical approval was not required based on the UK Health Research Authority decision tool.

Results

Nine men, all with severe haemophilia B, aged 21 to 64 (median 34 years) participated. All were diagnosed as children; four had a previous family history and all described themselves as ‘well treated’ with self-managed home therapy and prophylaxis. None had received gene therapy. Parallels were observed in their goals. Thematic analysis classified them as achievable, unachievable and future goals.

Achievable goals: Achieved despite living with haemophilia B, included education and employment, strong personal relationships, having a family, travelling, having a good social life and being able to participate in sports.

Unachievable goals: Things that participants felt unable to achieve either now or in the future. These included changing attitudes of others, a recognition of lost opportunities including more physical, sporting and employment activities.

Future goals: Those which might be achieved as treatments evolve. This included being more physically active, improved QoL for affected individuals and their families, greater ability to travel, and optimism for future treatments and their potential impact for future generations.

The goals of PwHB often focused on personally meaningful everyday activities. Seemingly modest changes in individual circumstances could impact on QoL and wellbeing. QoL improvements were defined as equitable access to education and employment, increased confidence in undertaking physical activities, and greater ability to travel. Treatment innovations were identified as enhancing individualised patient preferences and reduced fear of bleeding along with its sequelae of pain and limited mobility.

Conclusion

With improved access to novel therapeutic options, including gene therapy, PwHB are potentially able to experience equity to people without haemophilia in day-to-day life and activities. This will enable them to reimagine individual goals, their sense of what is ‘achievable’ and live their lives in personally meaningful ways.