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

Abstract

BackgroundDystrophic 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.ObjectivesTo 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.MethodsA 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.ResultsIn 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.ConclusionsThe 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.

Research priorities in mesothelioma: A James Lind Alliance Priority Setting Partnership

“…Priority setting methods have been established and used by almost 30 JLA PSPs, including prostate cancer [19], vitiligo [20], palliative and end of life care [21], childhood neurodisability [22], and dystrophic epidermolysis bullosa [23]. Details of the methods agreed and adopted can be found in a number of publications [24][25][26][27][28], and therefore only a brief summary is presented here.…”

Research Priorities in CKD: Report of a National Workshop Conducted in Australia

“…Previous priority-setting partnerships following the James Lind Alliance approach conducted preliminary surveys and voting exercises to identify and prioritize treatment uncertainties, removed questions that had been addressed by existing evidence, and conducted a face-to-face workshop to prioritize the remaining questions. 20,24,33,34 However, we chose to omit these initial steps to ascertain whether patients/caregivers and health professionals could identify research questions and priorities together from the outset. We have shown that it is possible to compress the research priority-setting partnership process, which has implications for cost, resources, and feasibility.…”

Involving Patients in Reducing Decision Uncertainties Around Orphan and Ultra-Orphan Drugs: A Rare Opportunity?

“…Three papers contained examples of patient input in priority-setting for research [77][78][79]. Two described multistakeholder processes that engaged representatives from patient organizations, physicians, other healthcare professionals, basic scientists and researchers in health economics and health policy.…”

“…Two described multistakeholder processes that engaged representatives from patient organizations, physicians, other healthcare professionals, basic scientists and researchers in health economics and health policy. Through surveys, workshops, and Delphi processes, lists of priority rare diseases or treatment-related uncertainties to be addressed through future research were constructed [78,79]. The third example outlined an approach used to incorporate patient priorities into a national research agenda for neuromuscular diseases in The Netherlands [77].…”