Research priorities for mitochondrial disorders: Current landscape and patient and professional views.

ABSTRACT: Primary mitochondrial disorders encompass a wide range of clinical presentations and a spectrum of severity. They currently lack effective disease-modifying therapies and have a high mortality and morbidity rate. It is therefore essential to know that competitively funded research designed by academics meets the core needs of people with mitochondrial disorders and their clinicians. Priority setting partnerships are an established collaborative methodology that brings patients, carers and families, charity representatives and clinicians together to try to establish the most pressing and unanswered research priorities for a particular disease. We developed a web-based questionnaire, requesting all patients affected by primary mitochondrial disease, their carers and clinicians to pose their

SUBMITTER: Thomas RH 

PROVIDER: S-EPMC9429991 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature