Epidermolysis Bullosa (EB) is a group of genetic conditions that cause fragile and blistering skin. Although there are different types of EB, which differ in severity, their signs and symptoms overlap. As a result of this disorder, patients face an unbearable burden in their lives, and their Quality of Life (QoL) is negatively affected at every life cycle stage. Nevertheless, the assessment of the quality of life of these patients is scanty. This project aims to develop a patient-centered questionnaire to assess the QoL of EB patients. This tool will be a valid aid for clinicians to understand patients better and identify the areas that need more attention; moreover, it will allow them to follow the patients over time and evaluate the impact of any treatments. The methodological process to develop the questionnaire consisted of two phases: firstly, a critical review of scientific literature was performed; secondly, a pseudo-Delphi study was carried out. A multidisciplinary panel (including patients, caregivers, and clinicians) actively participated in round tables to discuss the main areas of interest. Starting from this initial set of areas and through the repetition of Delphi (up to three rounds), a gradual refinement of the statements was carried out to define a list of items to be included in an easy-to-use but meaningful questionnaire. The final patient-centered questionnaire is thus able to measure the QoL beyond the physical symptoms and the clinical evolution of the disease, encompassing functional autonomy, psycho-emotional state, social relations and the working field.

Patient quality of life (QoL) is a pivotal parameter, which is often used by clinicians to evaluate how treatments and therapies influence patients' functionality and emotional state, aiming to ameliorate interventions and their outcomes. Currently, the majority of questionnaires assessing the QoL are designed with the main contribution of clinicians and, therefore, include items that are cantered on the disease rather than on its multifaceted impact on people's life. The failure to truly grasp the patients' perspective, their needs, aspirations, perceptions and emotional state, is a major drawback that sets medical care on clinical parameters alone. We aimed to bridge this gap by establishing an innovative patient-designed QoL index to provide a new, unbiased tool considering the patients' perception of their own well-being. Based predominantly on patients' contribution, we defined specific areas (physical, emotional, social, functional, economical) and the respective characterizing features, and applied a pseudo-Delphi methodology combined with customer-satisfaction techniques. For each feature, the degree of agreement and the importance were assessed on a Likert scale. A synthetic QoL index was created by weighting the importance of each item. The methodology tested led to the development of a valid patient-designed QoL index, providing a way forward that could potentially be applied to many different conditions. The areas and the features included are indeed common to all patients, irrespective of their disease. We found that the process of methodology development enhanced the patients' awareness of their subjective experience with the disease, and enabled them to better present their situation to the clinicians. The patient-designed QoL index provides a descriptive model that can be helpful to patients, clinicians and third parties and that can be further integrated with clinical details to obtain an overall view of the course of treatment for each patient.