Exploring the Lived Experience of Experimental Gene Therapy Among Patients with Inherited Immunodeficiencies in a Clinical Setting

Abstract

Gene therapy represents a major advancement in molecular medicine, particularly in the treatment of inherited immunodeficiencies, offering possibilities for long-term disease modification at the genetic level. While biomedical research has thoroughly addressed the clinical efficacy of gene therapy, little is known about how patients personally experience and interpret this transformative process. Despite the growing implementation of gene therapy, current approaches often neglect the subjective and existential dimensions of treatment, raising the question: how do individuals undergoing gene therapy make sense of their experience? This study applies an interpretative phenomenological approach to explore the lived experiences of patients receiving gene therapy for monogenic immunodeficiencies. The sampling method involved purposive selection of participants from a clinical registry at a national immunology center, with inclusion criteria focusing on adults aged 18 and above who had completed gene therapy within the previous 12 months. The sample consisted of ten participants (6 male, 4 female) aged 21 to 43, representing diverse socio-cultural backgrounds. In-depth, semi-structured interviews were conducted and analyzed using interpretative phenomenological analysis (IPA), revealing four key themes: embracing uncertainty, bodily transformation, navigating social relationships, and spiritual recalibration. These themes reflect the deeply personal, emotional, and identity-related changes participants experienced during and after therapy. The results provide insight into how patients construct meaning and cope with the complexity of gene-based medical innovation. These findings highlight the need for more holistic, patient-centered care models that recognize emotional and existential concerns alongside clinical outcomes. Concrete recommendations include integrating psychosocial counseling into gene therapy programs, training healthcare providers in empathetic communication, and fostering peer support networks. Future studies should examine longitudinal trajectories and cross-cultural variations to deepen understanding of the human implications of genetic medicine.