Research priorities for mitochondrial disorders: current landscape and patient and professional views

Thomas, Rhys H., Hunter, Amy, Butterworth, Lyndsey, Feeney, Catherine, Graves, Tracey D., Holmes, Sarah, Hossain, Pushpa, Lowndes, Jo, Sharpe, Jenny, Upadhyaya, Sheela, Varhaug, Kristin N., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Wheeler, Russell, Staley, Kristina and Rahman, Shamima 2022. Research priorities for mitochondrial disorders: current landscape and patient and professional views. Journal of Inherited Metabolic Disease 45 (4) , pp. 796-803. 10.1002/jimd.12521

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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 core needs of people with mitochondrial disorders and their clinicians. The 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 research questions. This yielded 709 questions from 147 participants. These were grouped into overarching themes including basic biology, causation, health services, clinical management, social impacts, prognosis, prevention, symptoms, treatment, and psychological impact. Following the removal of ‘answered questions’ the process resulted in a list of 42 discrete, answerable questions. This was further refined by web-based ranking by the community to 24 questions. These were debated at a face-to-face workshop attended by a diverse range of patients, carers, charity representatives and clinicians to create a definitive ‘Top Ten of unanswered research questions for primary mitochondrial disorders’. These Top Ten questions related to understanding biological processes, including triggers of disease onset, mechanisms underlying progression and reasons for differential symptoms between individuals with identical genetic mutations; new treatments; biomarker discovery; psychological support; and optimal management of stroke-like episodes and fatigue.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Optometry and Vision Sciences
Additional Information:	This is an open access article under the terms of the Creative Commons Attribution License
Publisher:	Springer
ISSN:	0141-8955
Date of First Compliant Deposit:	13 May 2022
Date of Acceptance:	24 April 2022
Last Modified:	07 May 2023 06:08
URI:	https://orca.cardiff.ac.uk/id/eprint/149753

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