“I'd Go on a Hike with My Kids... That Would Make Me Feel so Happy.” Recognizing What People with Hemophilia B Identify As Meaningful When Considering Their Personal Goals and the Potential for Gene Therapy
Authors: Nagra Ranjit , Khair Kate , Gorman Richard , Trim Joe , Collins Shuk-Li 
Published: December 2024

Introduction:

People with hemophilia B (PwHB) historically endured significant adverse clinical outcomes. The current management of haemophilia B in the UK is largely through the use of factor replacement products. However, a large-scale multinational study revealed reduced quality of life (QoL) in PwHB of all severities, highlighting that unmet needs remain. Recent therapeutic developments including extended half-life factor IX (FIX) products, novel agents, and gene therapy offer future opportunities to address treatment-related issues. Against this background we investigated what PwHB identify as meaningful when considering their personal goals and the potential for gene therapy.

Methods:

A cross-section of UK men with severe or moderate hemophilia B were invited to take part in a face-to-face workshop or one-to-one online interview. Audio recordings of the workshop and interviews were transcribed verbatim. Transcripts were reviewed and coded using a process of inductive thematic analysis. Using this qualitative research methodology an iterative process was developed to explore, review, reflect, and refine emergent codes, before identifying final themes. Ethical approval was not required based on the UK Health Research Authority decision tool.

Results:

Nine men aged 21 to 64 (median 34 years), all with severe hemophilia B participated. Four had a previous family history; all were diagnosed in childhood; all considered themselves ‘well treated’ for many years with self-managed home prophylaxis. None had received gene therapy.

Many parallels were observed in the goals discussed. Thematic analysis suggests they can be classified as achievable, unachievable and future goals.

Achievable goals: Those achieved despite hemophilia B, such as pursuing education and employment, building strong relationships, having a family, being able to travel, and having a quality social life including sporting activity.

“A goal that I had was because I had a terrible educational experience growing up and I had terrible reports from school, I wanted to be pig-headed and I wanted to get a degree.”

One participant recalled how their martial arts trainer had adapted a training plan around their haemophilia-related arthritis:

“He adapted it for me and it got me hooked. He's designed a special syllabus around me and what I can do.”

Unachievable goals: Those participants felt unable to achieve, now or in the future, such as changing the attitudes of others, avoiding a sense of lost opportunities, and engaging in more physical sporting and employment activities.

“If I hadn't had haemophilia, I would have liked to go into the armed forces. I think that's a route that I would have gone down.”

“You just know that's that... you're probably better to do something with computers.”

Future goals: Those participants hoped to achieve as treatment evolves, such as being more physically active, improved QoL for PwHB and their families, greater freedom to travel, and optimism for future generations of PwHB linked to expectations of future treatment paradigms.

“I'd go on a hike with my kids. And that would really make my day. That would make me feel so happy.”

“I have no idea whether we will have a family or not... when I think about it, I definitely think it's easier and... it would be something that I'd think about more seriously and have less reservations about saying no to, because of my condition.”

Within this research, the goals of PwHB often focused on everyday activities that were highly personally meaningful, indicating that seemingly modest changes in individual circumstances could have a significantly amplified effect on wellbeing. Equitable access to education and employment, confidence in physical activities, and greater freedom to travel were at the core of how participants defined their QoL. Advances in treatment were perceived to facilitate individual ambitions by offering greater personalization to patient preferences, reduced fear of bleeds, and more manageable packaging/storage compared to standard half-life FIX products.

Conclusion:

With enhanced access to appropriate treatment choices, including gene therapy, PwHB have the potential to experience greater equity, enabling them to reimagine their goals, reinvent their sense of what is ‘achievable’ and live their lives in even more personally meaningful ways.