Unveiling the patient experience: a Delphi method based questionnaire for evaluating the quality of life in adults with Epidermolysis Bullosa

Epidermolysis Bullosa (EB) is a rare disease that significantly impacts the Quality of Life (QoL) of both patients and their caregivers, often imposing an overwhelming burden. This study aimed to delve into the patients' lived experiences, capture their perspectives, and discern their needs to construct a comprehensive QoL questionnaire. The Delphi method was selected as the optimal approach for this endeavor, integrating group discussions with individual, anonymous data collection sessions. Qualitative analysis of spontaneously generated statements culminated in the iterative refinement of the questionnaire through multiple Delphi rounds. The final question-naire aims to become a valuable resource to evaluate EB patients' QoL and to facilitate ongoing monitoring of patients' progress and eventually assess treatments’ efficacy over time.