According to the researchers, graft-versus-host disease (GVHD) prevents and reduces or eliminates the requirement for immunosuppression. Gene therapy (GT) is emerging as a promising treatment option for transfusion-dependent thalassemia (TDT) through Hematopoietic stem cell transplantation (HSCT). Some patients may require transfusions for a while after GT, but preliminary data suggested that the majority will eventually become transfusion-independent. The acceptability of GT in TDT patients is poorly understood. Investigators wanted to investigate the extent to which patients and their families were familiar with GT’s role in TDT, as well as the reasons that go into making this choice. To better understand patient/family awareness and decision-making regarding GT in TDT, semi-structured interviews were conducted with parents of children with TDT and adults with TDT who provided informed consent. By combining thematic analysis with content-coding, study group analyzed the material from the transcribed interviews to identify overarching themes. About 8 people living with TDT and 17 parents of children with TDT (mean age: 38 years; range: 17 to 52 years) participated in semi-structured qualitative interviews for this study. Knowledge of GT, motivating/dissuading factors, and outcomes were common threads running across the responses. Participants in the study mentioned wanting to pursue GT because they hoped it would “cure” them of thalassemia and allow them to live normal lives without transfusions or chelation. Concerns about death or the procedure failing stemmed from a lack of information regarding the technique, long-term outcomes, safety, and side effects of GT. Most GT patients were satisfied with a reduction in transfusion frequency rather than complete removal of transfusions. Participants were split on whether they would want to continue transfusions indefinitely, a treatment they were familiar with, or try GT, which they had never done before and whose efficacy was unknown. There was no matched sibling donor among the participants, making HSCT from an unrelated donor the least favored choice. Patients and families dealing with TDT have muted expectations for GT but are open to the possibility that transfusion reduction will be the result.

Source: bmcpediatr.biomedcentral.com/articles/10.1186/s12887-022-03598-3