The top ten research priorities for rare mitochondrial diseases: results of a patient/health professional priority setting partnership

Purpose The primary mitochondrial disorders encompass a wide‐reaching number of clinical presentations and a spectrum of severity. It is therefore vital to know that research that is designed by academics and competitively funded, meets the core needs of people with mitochondrial disorders and their clinicians. Methods The Priority Setting Partnerships (PSPs) are an established and collaborative methodology that brings patients, charity representatives and clinicians together to try to establish the most pressing and unanswered research priorities. After a scoping exercise to identify relevant partners, we chose to include questions relevant to children and adults (many people have life‐long conditions) and limit our focus to the primary mitochondrial disorders. We developed a web‐based questionnaire disseminated widely asking for all patients, carers and clinicians to pose their important research questions. Results This yielded 709 questions from 50 patients, 47 carers and 50 clinicians. These were grouped in to themes and were filtered for statements that were personal stories, for example, and not answerable questions. A literature search was undertaken to ensure that each question was unanswered from current evidence. This process resulted in a list of 42 discrete, answerable questions. Conclusions All patients and clinicians again were invited to prioritise these 42 questions using a web‐platform and a rank of ‘important’ to ‘less important’ questions was created. This identified 24 questions that were taken forward for a face‐to‐face workshop attended by a diverse range of patients, carers, charity representatives and clinicians where the relative merits and strengths of each question were debated to create a definitive ‘top 10 of unanswered research questions for mitochondrial disorders’. At every stage, we have actively sought to be inclusive of people who do not have English as a first language and people with visual impairment.