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. 2022 Jul;45(4):796-803.
doi: 10.1002/jimd.12521. Epub 2022 May 31.

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

Rhys H Thomas  1 , Amy Hunter  2 , Lyndsey Butterworth  3 , Catherine Feeney  4 , Tracey D Graves  5   6 , Sarah Holmes  6 , Pushpa Hossain  7 , Jo Lowndes  8 , Jenny Sharpe  9 , Sheela Upadhyaya  10 , Kristin N Varhaug  1 , Marcela Votruba  11 , Russell Wheeler  12 , Kristina Staley  13 , Shamima Rahman  14
Affiliations

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

Rhys H Thomas et al. J Inherit Metab Dis. 2022 Jul.

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 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 10 of unanswered research questions for primary mitochondrial disorders". These Top 10 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.

Keywords: gene therapy; patient involvement; primary mitochondrial disease; priority setting partnership; treatment.

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Conflict of interest statement

Rhys H. Thomas has received honoraria from Arvelle, Bial, Eisai, GW Pharma, Sanofi, UCB Pharma, UNEEG, Zogenix, and unrestricted research funding from Arvelle and UNEEG. Shamima Rahman sits on the scientific advisory board for Khondrion and the virtual scientific advisory boards for Pretzel, Taysha and Zogenix. She is the UK Chief Investigator for the MIT‐E trial (PTC Therapeutics), and investigator on the TEETPIM trial. She carries out consultancy activities with the following: BioMedical Insights, Epirium, Neurovive, Partners4Access, Pfizer, Stealth, Access Infinity. Marcela Votruba carries out consultancy activities with the following: Stoke Therapeutics, Santhera, Chiesi. She is an investigator on the LEROS study (Chiesi). Russell Wheeler has received honoraria from Santhera AG and Roche in the past. The LHON Society, for which Russell Wheeler is a trustee, has received sponsorship from Santhera AG, Gensight Biologics and Stealth Biotherapeutics.

Figures

FIGURE 1
FIGURE 1
Flowchart illustrating the James Lind Alliance Priority Setting Partnership (PSP) process of gathering uncertainties, grouping them thematically, evidence checking, then analysing them before further reprioritisation and ranking to create a final “Top 10”
See this image and copyright information in PMC

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