The Lily Foundation was among several charities involved in the Mitochondrial Disease Priority Settings Partnership (PSP), set up to identify the top research priorities for patients with mitochondrial disease and the healthcare professionals who provide their care.
The project, which also included LHON Society, Metabolic Support UK and Muscular Dystrophy UK, used a tried and tested method developed by the James Lind Alliance. This is a robust method that enables patients, carers and clinicians to come together on an equal footing to develop a list of research questions in order of priority.
The list will be used to help ensure that future research funding targets areas where it will have the most positive impact on people affected by mitochondrial disease.
The Top 10 mitochondrial disease research questions
- Could an understanding of the cellular and molecular processes in mitochondrial disease lead to new treatments?
- Can the damage to cells caused by mitochondrial disease be repaired (e.g. to restore hearing, vision, or repair the pancreas)?
- What are the biological mechanisms that cause mitochondrial disease to get worse over time?
- What biomarkers (biological markers that can be measured e.g. in blood samples) could be used to diagnose mitochondrial disease and to track its progress?
- Could gene therapy help people with mitochondrial disease?
- What are the psychological impacts of mitochondrial disease? What are the best ways to provide psychological support for people with mitochondrial disease and their families?
- What are the best ways to reduce the risk of stroke-like episodes in people with mitochondrial disease?
- What factors could trigger the start of mitochondrial disease in people who have a genetic mutation?
- Why are people with the same genetic mutation affected so differently in mitochondrial disease?
- What are the most effective ways to treat and manage fatigue?
What was the focus of this PSP?
This PSP focuses on primary 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.
As part of this PSP, we collected patients, carers and healthcare professionals’ questions related to primary mitochondrial diseases both in adults and in children.
This PSP looked 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 was involved in this process?
The project’s steering group was 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.
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.
Who funded this project?
This project was funded by Wellcome through a grant awarded to Genetic Alliance UK, of which The Lily Foundation is a member.