Prioritization of therapy uncertainties in Dystrophic Epidermolysis Bullosa: where should research direct to? an example of priority setting partnership in very rare disorders

Background: Dystrophic Epidermolysis Bullosa (DEB) is a rare genodermatosis (7 cases per million) that causes blisters and erosions with minor trauma in skin and mucosa, and other systemic complications. A recently updated systematic review showed that the research evidence about DEB therapies is poor. As new trials in DEB are difficult and expensive, it is important to prioritizise research that patients and clinicians consider more relevant. Objectives: To describe and prioritize the most important uncertainties about DEB treatment shared by patients, carers and health care professionals (HCPs) in order to promote research in those areas. Methods: A DEB Priority Setting Partnership (PSP) was established, including patients, carers and HCPs. DBE uncertainties were gathered from patients and clinicians, and prioritized in a transparent process, using the methodology advocated by the James Lind Alliance. Results: In the consultation stage, 323 uncertainties were submitted by 58 participants. Once the duplicated and non-treatment uncertainties were removed, the remainder were reduced to a list of 24 most voted questions. These 24 uncertainties were prioritized in a final workshop where a balanced number of patients, carers and HCPs selected the top 10 therapy uncertainties. The final list includes interventions in wound care, itch and pain management, treatment and prevention of syndactyly, cancer prevention and future promising therapies. Conclusions: The final list of the top 10 treatment uncertainties on the management of DEB provides guidance for researchers and funding bodies, to ensure that future research answers questions that are important to both clinicians and patients. The method proposed by the James Lind Alliance is feasible for very rare disorders.