Exploring haemophilia gene therapy

As initial studies of haemophilia gene therapy began to show promise, we thought it was important to look beyond clinical trial data. Coupled with this was a need to understand how gene therapy might impact the everyday lives of people with haemophilia and their families. 

We set out to learn what members of the haemophilia community really thought about gene therapy. Funded by a grant from uniQure BV Pharmaceuticals, we developed the Exigency programme, an ethically approved, mixed methods study. 

Through a comprehensive, cross-sectional survey and focus group, we heard from parents of children with haemophilia. 

Qualitative interviews and a focus group, explored the views and experiences of people with haemophilia who had undergone gene therapy in a clinical trial programme, and others who had been excluded or withdrew from a trial, were unable to access a trial, or did not want gene therapy. We also heard from family members.

A total of 115 members of the UK haemophilia community took part. 

Study results revealed the differing, sometimes inter-related factors that influence whether individuals want to pursue haemophilia gene therapy as a treatment option. 

The processes involved, individual understanding of their haemophilia and sense of identity were all considered to be important. For some, gene therapy was described as ‘liberating’ and ‘life-changing’, while others felt a loss of control over their condition. Many reported problematic experiences with immunosuppressive treatment. 

Exigency also identified a need for structured educational interventions and psychosocial support to help people with haemophilia and their families understand and cope with all gene therapy outcomes.

Findings from the study programme have been shared widely:

• Presentations at international conferences
• Five publications in peer-reviewed journals
• A short animation incorporating the views of study participants
• Social media activity and blogs

The Exigency study is now regularly cited in publications and presentations.