<p>The Patient Experience of Gene Therapy for Hemophilia: Qualitative Interviews with Trial Patients</p>

Abstract

Background: The phase ½ hemophilia B clinical trial (AMT-060) demonstrated stable endogenous FIX levels after 3.5 years (mean FIX activity between 5.1% and 7.5%) with continued reductions in annualized bleeds to near zero with the higher dose, and a 78-96% reduction by year in exogenous FIX use. Objective: The views of all the three participants from Germany participating in the AMT-060 study have been investigated about their experiences with conventional and gene therapy and the effects of the forms of therapy on everyday life. Patients/Methods: The patients (aged 33-35 years) performed regular prophylactic replacement with factor IX concentrate prior to the gene therapy, reported 0-7 bleeds in the year prior to the treatment, with Hemophilia Joint Health Scores of 0-8. Following topics have been investigated "dealing with illness", "participation in studies", "perception of conventional therapy", "perception of gene therapy", "significance of participation in gene therapy studies", "therapy of haemophilia after the end of the study". Results: All three participants have started to become more active and do more sports. However, they expressed anxiety about not knowing how long the effect would last and they felt that psychological support would be needed if the factor IX level fell back in the future. No patient expressed concern about any long-term potential negative consequences of gene therapy. Conclusion: Gene therapy has the potential to change the life of patients with haemophilia not only by the reduction of bleeding events but also by the increase of active and sportive activities.

Living with a “hemophilia‐free mind” – The new ambition of hemophilia care?

“…Whereas before gene therapy, his thoughts had constantly revolved around the disease, the next injection, and the risk of bleeding between two injections, he felt that these days were now mostly over. This case is consistent with observations made by W. Miesbach and R. Klamroth during interviews of three gene therapy study participants in Germany 9 …”

“…This case is consistent with observations made by W. Miesbach and R. Klamroth during interviews of three gene therapy study participants in Germany. 9 …”

Gene Therapy for Inherited Bleeding Disorders

“…With the anticipated very high costs of gene therapy, more quality-of-life outcomes need to be collected to understand the cost-benefit of such approaches. 111 Ultimately, gene therapy has the potential to both increase the accessibility of treatments for bleeding disorders but also normalize quality-of-life outcomes.…”

Parental perspectives on gene therapy for children with haemophilia: The Exigency study

“…If gene therapy were to become a treatment option for children, they and their families would require age and developmentally appropriate information to enable them to make joint, informed decisions about this therapeutic option. Gene therapy has the potential to ‘normalise’ lives, effectively converting severe haemophilia to a condition that does not require routine treatment 19 . This is an appealing future, but one requiring a different approach to a life with less support from healthcare professionals.…”

“…Gene therapy has the potential to 'normalise' lives, effectively converting severe haemophilia to a condition that does not require routine treatment. 19 This is an appealing future, but one requiring a different approach to a life with less support from healthcare professionals. It is presently unclear how families should be supported when considering gene therapy where the impact extends beyond the affected individual.…”