ELSIcon2022 Paper: The 'Lived Experience' of Pediatric Gene Therapy - A Scoping Review

ELSIcon2022 • Paper • May 27, 2022

Laura Kimberly, Cara Hunt, Ryan Dieudonne, Alix Hall, Pat Furlong, Andrew McFadyen, Alison Bateman-House, Jennifer DeSante-Bertkau

Little is known about patients’ and families’ lived experience of participating in pediatric gene therapy clinical trials, including how they think about gene therapy research and articulate the emotional, social, ethical, and equity trade-offs that impact their lives and illness experience. Currently, pediatric research involving investigational gene therapies targets a broad range of indications––including rare and ultra-rare diseases––which vary in severity and in the availability of alternative therapies. Pediatric gene therapy differs meaningfully from adult gene therapy in that the decision to participate involves a dyad of both the child and parent and/or caregiver/s. It is critical to have an improved understanding of patients’ and families’ perceptions of the social, emotional, physical, and logistical burdens or benefits of participating in such trials, and how they weigh and prioritize these factors when deciding whether to participate. Doing so will improve the informed consent process for families of children with rare diseases, will contribute to development of more supportive educational materials from patient advocacy organizations, and will inform more patient- and family-centric policies from gene therapy trial sponsors. We conducted a scoping review of current literature in this subject area. Our findings point to burdens on families of weighing risks and benefits on behalf of their child, burdens of ‘doing the right thing’ as a parent, and benefits associated with participating in research in the hopes of improving outcomes, not just for the child but for other children and families living with rare diseases.