Our Work

Mitochondrial Disease Priority Setting Partnership

Last Reviewed 25/01/2019

We are coordinating the Mitochondrial Disease 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 Mito PSP survey is now closed.

What is a Priority Setting Partnership?

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.

What is the focus of this PSP?

This PSP focuses on mitochondrial disease. 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 disease – 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 natural history of these diseases. This includes improving the understanding of the genetics and causes, the disease mechanisms and the progression of rare mitochondrial diseases.
  • care, treatment and management, including supplements, alternative medicine and psychological support.

Who is involved in this process?

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 

I am interested in knowing more, what do I need to do?

In Spring 2019 we asked for patients’, carers’ and healthcare professionals’ to take part in a survey, the results of which will be released later this year. You were invited to take par if:

  • you have mitochondrial disease;
  • you are a carer for someone with mitochondrial disease (either now or in the past);
  • you are a healthcare professional with relevant experience

You can read more about the PSP process, including reading the minutes of the meetings, here.

Why focus on rare mitochondrial disease?

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 disease. 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.

Who is funding this project?

This project is funded by the Wellcome Trust through a grant awarded to Genetic Alliance UK.

Join our alliance of 200+ patient charities

Join us