We are coordinating the Mitochondrial Diseases Priority Setting Partnership (PSP) to identify the top research priorities for patients with rare mitochondrial diseases and the healthcare professionals who provide their care.
The aim of PSPs is to find out what research is important to patients and service users, carers and relatives, and clinicians and other healthcare professionals. This PSP will use a tried and tested method developed by the James Lind Alliance – you can read more about it here. This is a robust method that enables patients, carers and clinicians to come together on an equal footing to develop a ‘top 10’ (plus a longer) list of unanswered research questions in order of priority.
This PSP focuses on mitochondrial diseases. Mitochondrial disease is the term given to a group of rare medical disorders caused by dysfunction in mitochondria. Mitochondria are tiny structures present in nearly every cell in our bodies which generate about 90% of the energy we need to live. A non-exhaustive list of some of the diseases covered by this PSP can be found here. These are called ‘primary’ mitochondrial diseases – the fault is in the energy generation function itself. Many other conditions are thought to involve a fault in another part of the mitochondria, and this is known as ‘secondary’ mitochondrial dysfunction. These conditions are not covered by this PSP. You can read more here.
As part of this PSP, we will collect patients, carers and healthcare professionals’ questions related to primary mitochondrial diseases both in adults and in children. This PSP will look at:
The project’s steering group is composed of patient organisations – LHON Society, The Lily Foundation, Metabolic Support UK and Muscular Dystrophy UK – and relevant healthcare professionals – a physiotherapist, a genetic counsellor, an ophthalmologist, neurologists, a paediatrician, and a nurse consultant. You can read more about the steering group here.
We will run a survey asking for patients’, carers’ and healthcare professionals’ views in early 2019. If you want to take part in the process, sign up to the Genetic Alliance UK newsletter or follow us on social media. Alternatively, please contact the PSP coordinator, Mariana Campos.
You can read more about the PSP process, including reading the minutes of the meetings, here.
In November 2017, we put a call out to our members for expressions of interest in a PSP. Our members’ responses determined the topic of the PSP. Following discussion with those interested, we agreed that the focus of this PSP would be rare mitochondrial diseases. This area had a number of committed patient groups representing related conditions, as well as interest and capacity from within the medical community. The consultation process is now closed but you can read about it here.
This project is funded by the Wellcome Trust through a grant awarded to Genetic Alliance UK.