Current research projects
Several promising new treatments for mitochondrial disease are being explored. Discover more about the projects we’re currently funding.
You can also read about past research projects The Lily Foundation has funded.
Improving diagnostic rates for complex cases of mitochondrial disease The Lily Foundation, in collaboration with the three Highly Specialised Services for Mitochondrial Disorders in London, Newcastle and Oxford, have launched Lily Precision Medicine Diagnostic Project, an innovative diagnostic model designed to improve rates for complex cases of mitochondrial disease.
Background
Mitochondrial disease is a genetic condition that is caused by a ‘spelling mistake’ in one of our genes. This is sometimes referred to as a ‘variant’ or a ‘mutation’. The diagnosis of mitochondrial disease involves testing a patient’s DNA to try to find the mutation that causes the disease.
The problem is that within a person’s genetic material there can be thousands of spelling mistakes. They are what sets us apart from each other and makes each of us unique. Most are not harmful, but some have the potential to cause disease.
To make things even more complicated, mitochondrial disease can be caused by faults in hundreds of different genes. Finding the gene fault that is responsible for causing a person to have mitochondrial disease can be like looking for a needle in a haystack, or a single spelling mistake in a whole dictionary.
Though DNA testing is available via the NHS, a lack of access to cutting-edge genetic techniques and specialist doctors has led to a backlog of patient data. Many complex cases remain in limbo, leaving patients stuck without a diagnosis for their mitochondrial disease.
Aims of this study
This project will allow scientists and researchers to look closely at the genetic information of patients who are thought to have mitochondrial disease but who haven’t yet received a diagnosis. The project will fund a dedicated team who will look closely at the data that has been gathered so far, re-analysing the genetic spelling mistakes of these patients and using the latest technologies to understand if these faults are responsible for causing mitochondrial disease.
Potential benefit to patients
A genetic diagnosis of mitochondrial disease is essential for patients and families. For families who want to have a subsequent pregnancy, genetic diagnosis is essential to be able to access reproductive options such as prenatal testing during pregnancy and IVF procedures. A genetic diagnosis of mitochondrial disease can also bring closure, as well as allowing access to clinical trials and potential new treatments and helping to guide care and patient management.
There is much to be gained from funding the technology and expertise to improve diagnostic rates. Lily Precision Medicine Diagnostics will benefit those waiting for a diagnosis now, offering affected families a diagnostic service that might not be available through the NHS for several years.
If successful, it’s hoped that this new pipeline will also be adopted by the NHS and form part of the standard genetic testing process for patients in the future. The project has the potential to further increase rates of diagnosis of mitochondrial disease as well as add to our wider understanding of mitochondrial diseases and bring us closer to eventual treatments or even a cure.
Further information
The team have begun processing new cases at sites in London and Cambridge. More cases are expected to be processed as and when other new sites are established across the country. Sites are currently being established at Manchester, Oxford, Moorfields and Guys & Evelina. Later in the year sites are due to expand to include Bristol, Newcastle, QE Birmingham, Birmingham Women & Children’s, St Mary’s Manchester and Sheffield.
Grant information
Official study title – A Lily Precision Diagnostic Service – accelerating introduction of advanced diagnostics for mitochondrial patients in the NHS
Lead investigator – Professor Robert Pitceathly
Medical institute – University College London (UCL)
Year grant funding awarded – 2022/2023
Project duration – 4 years
Cost - £821,731
Status – Currently recruiting in London, Cambridge, GOSH, Northern Care, Manchester, Moorfields, Birmingham, Oxford and Guy’s and St Thomas’, with more sites to follow
Developing wearable technology to improve balance in people with mitochondrial disease Prof Robert Pitceathly and Sarah Holmes from UCL are developing and testing a wearable sensor and smartphone app to improve mitochondrial disease patients’ posture and balance when exercising at home.
Background
People with mitochondrial disease often have balance problems due to various issues like nerve damage and inner ear problems. These balance issues can lead to falls. While specific exercises can help improve balance, it’s hard for patients to get regular physiotherapy and do exercises at home without support. However, new wearable devices, which have become more affordable, might help people to perform these exercises at home by providing helpful feedback and motivation to exercise.
Aims of this study
This project aims to:
- Develop and refine a wearable sensor and smartphone app tailored to patients with mitochondrial disease to improve their posture and balance while exercising at home.
- Check if patients find the device and app easy and helpful to use through a small initial study.
- Use the data from the initial study to plan a larger study to see how well the device and app work for improving balance in mitochondrial disease patients.
Potential benefit to patients
Patients with mitochondrial disease often have trouble with balance and can’t always see a physiotherapist because of fatigue, travel issues or lack of specialist availability. This wearable device and app will help patients by providing feedback on how they’re doing, reminding them to exercise and tracking their progress. This will make it easier for patients to do their exercises correctly and regularly, improving their balance and reducing the risk of falls. This way, they can stay more independent and have a better quality of life.
Grant information
Official study title – To develop wearable technology to optimise balance and functional outcomes in people with mitochondrial disease who participate in unsupervised activity
Lead investigator – Professor Robert Pitceathly
Medical institute – London UCL
Year grant funding awarded – 2023/2024
Project duration – 2 years
Cost – £77,734
Status – Ongoing
Supported by a generous donation by My Mito Mission
Studying treatments of mitochondrial disease Prof Simon Johnson, Dr Monika Winters and Dr Uwe Richter from Northumbria University are looking into how different treatments can affect mitochondrial disease using cell models.
Background
Mitochondrial diseases are very complex. Leigh Syndrome is a common type in children, caused by many different genes. The Ndufs4(KO) mouse model, which closely mimics human Leigh’s disease, has been essential in finding treatments for mitochondrial disease. Three strategies – immune targeting, low oxygen levels and mitochondrial translation inhibition – have shown promise as treatments. Sometimes, symptoms can improve without fixing the underlying issues that occur in the body. We need to be able to fully understand the features of the disease to get treatments to clinic.
Aims of this study
This project aims to understand how three different treatments – low oxygen levels, the drug rapamycin, and the antibiotic doxycycline – affect mitochondrial disease. Researchers will use patient cell models to:
- Investigate how these treatments change the production of certain signalling molecules in lab-grown human cells.
- Study these signalling changes in brain cells (neurons) taken from these cells, both under normal conditions and when ‘stressed’.
- See how these treatments affect the movement of immune cells towards the neurons.
Potential benefit to patients
Treating mitochondrial disease is difficult, often only managing symptoms. However, recent research has identified new treatment targets: the immune system, how the body makes proteins and oxygen levels. This project will explore how these treatments work and if they can be combined to be more effective. Understanding these mechanisms could lead to better treatment strategies, making clinical trials more efficient and ultimately providing benefits to mitochondrial disease patients.
Grant information
Official study title – Underlying pathways for the treatment of mitochondrial disease
Lead investigator – Professor Simon Johnson
Medical institute – Northumbria University
Year grant funding awarded – 2023/2024
Project duration – 2 years
Cost – £94,315
Status – Ongoing
Supported by a generous donation by My Mito Mission
Testing a new biomarker to measure muscle involvement in patients with Primary Mitochondrial Myopathies Dr Pizzamiglio and Professor Pitceathly at University College London will test a new MRI technique to measure muscle involvement in patients with Primary Mitochondrial Myopathies
Background
Mutations in mitochondrial genes that mainly affect the muscles are known as Primary Mitochondrial Myopathies (PMMs), and can cause symptoms including exercise intolerance, muscle pain (myalgia), fatigue and muscle wasting. A significant obstacle in diagnosing and monitoring progression of PMMs is the ability to accurately assess muscle involvement. Current methods, such as MRI, have been unable to generate robust data, meaning that improved methods to capture changes in muscle are needed. In addition, due to their severity and impact on patient's lives, muscle symptoms are often the target of drug trials - however, the sensitivity of current measures is impacting trial outcomes because they are unable to capture modest drug effects on muscle throughout a trial's lifetime.
Aims of this study
This study will use a special MRI technique to test whether measuring the efficiency of oxygen utilisation by the muscle tissue (the “oxygen extraction fraction”), could be a valid method to identify muscle changes even at the early stages of disease.
Potential benefit to patients
If proven to be effective, this MRI method has the potential to be a new, non-invasive technique to measure the severity of muscle involvement in patients with Primary Mitochondrial Myopathies. This new marker could be used to measure the effectiveness of new drugs being developed for the disease, as well as being used in clinical practice to help support diagnosis and assess disease progression. Importantly, it could also be used as a new outcome measure in clinical trials, potentially replacing exercise testing for patients who are unable to exercise.
Grant information
Official study title – Measurement of muscle oxygen extraction fraction using MRI as a disease biomarker in primary mitochondrial myopathies
Lead investigator – Dr Chiara Pizzamiglio and Professor Rob Pitceathly
Medical institute – University College London
Year grant funding awarded – 2022/2023
Project duration – 24 months
Cost – £92,980
Status – Ongoing
The Leigh Syndrome International Consortium – A patient-driven research network A consortium set up to establish global best practices of care for Leigh Syndrome (Leigh’s disease) patients by bringing together the world’s leading scientists, clinicians and patient advocacy groups to drive research that will advance understanding, uncover effective treatments and ultimately find a cure.
Background
The consortium is managed by a Governance Committee comprising international patient advocacy groups including The Lily Foundation (UK), Mito Foundation (Australia), Mitocon Onlus (Italy), People Against Leigh Syndrome (USA) and the United Mitochondrial Disease Foundation (USA).
The Governance Committee works in tandem with international scientific and medical steering committees drawn from the world’s top mito experts.
Aims of this study
The consortium has three areas of focus:
- Natural history: to improve the understanding of the typical course and development of Leigh Syndrome through a global prospective natural history study
- Clinical trial endpoints: to define meaningful outcomes that can be measured objectively (physical endurance, relief of symptoms etc.) to determine whether the intervention being studied is beneficial
- Pre-clinical research: to undertake studies in test tubes or animals that yield preliminary efficacy, toxicity and safety information before moving to the human trial phase.
Potential benefit to patients
Global collaboration of this kind backed by dedicated project grant funding will improve the lives of patients with Leigh Syndrome around the world. A better understanding of Leigh’s disease through building and sharing of natural history data and funding research that is necessary to ensure Leigh Syndrome is ‘trial ready’ will ensure potential treatments are available to patients faster.
Further information
Grant information
Official study title – Leigh Syndrome Roadmap Study
Lead site – United Mitochondrial Disease Foundation (UMDF)
Medical institute – International collaboration
Year grant funding awarded – 2018/2019
Project duration – 5 years+
Total project funding – $1,000,000; Lily funding £84,000 supported by £3,000 from Leigh Network
Status – Ongoing