Lily Research Focus: Leigh syndrome

12 March 2020

Project: Leigh syndrome: Investigating Outcome measure & Natural history (LION)

Location: Wellcome Centre for Mitochondrial Research (WCMR), Newcastle University

Research Leads: Dr Albert Lim and Prof Bobby McFarland

Supporting medical research into mitochondrial diseases is a key part of our work at The Lily Foundation. Not only is research our best hope of finding a cure, it also helps improve lives today. Thanks to research, in recent years we have seen major advances in the diagnosis and clinical management of mitochondrial conditions, resulting in real positive change for patients and their families.

We also recognise the importance of collaboration, and work closely with international mitochondrial disease charities to improve the lives of people affected by mitochondrial disease across the globe. One such partnership is the Leigh Syndrome International Consortium (LSIC), which recently awarded grants totalling $179,000 USD (£137,000 GBP) to research projects specifically related to Leigh syndrome. One of the awardees was a project based at the Wellcome Centre for Mitochondrial Research in Newcastle, we are excited to share details of here.

What is Leigh syndrome?

Leigh syndrome is a mitochondrial disease that usually affects young children. It is a severe neurological condition associated with specific patterns of brain involvement seen on an MRI scan. It typically affects development of movement, posture and mental abilities, with children sometimes losing these skills after a period of what appeared to be normal development. Children with Leigh syndrome may deteriorate in this way over many years, or they may follow a more rapidly progressive decline over a period of months.

What causes Leigh syndrome?

Leigh syndrome can be caused by genetic variations in over 75 different genes. These include nuclear genes (within the nuclear DNA) or mitochondrial genes (within the mitochondrial DNA). All of the mutations disrupt the process of energy production by the mitochondria.

What is the aim of the LION study?

The aim of the study is to collect detailed information about the clinical symptoms associated with Leigh syndrome and find out how these change over time. This will include studying patients with a number of different genetic causes of Leigh syndrome to determine if the rate of disease progression differs. The study will try to establish other factors that could influence the clinical outcome, such as genetic or environmental factors, and try to identify patients who could benefit from potential therapies.

Why is this important?

The clinical information collected will provide researchers with a better understanding of how Leigh syndrome develops and may allow doctors to predict how other people with the condition will be affected over time. Studying the clinical features of patients in detail will also contribute to the design of clinical trials and allow the development of meaningful outcome measures that can determine if a treatment is having a clinical benefit.

What will this involve?

The research team plans to study at least 50 children diagnosed with Leigh syndrome. This will involve a number of clinical assessments taken at different time intervals to monitor disease progression. The study will also make use of the MitoCohort UK, which will provide up to 10 years of patient data to supplement the study.

How has Lily research funding helped?

The LSIC was launched in September 2019 with the aim of advancing scientific research specifically related to Leigh syndrome. The founding members include The Lily Foundation (UK), Mito Foundation (Australia), Mitocon Onlus (Italy), People Against Leigh Syndrome (USA) and the United Mitochondrial Disease Foundation (USA). The LSIC has pledged a total of $1 million USD (£770,000 GBP) to six projects which aim to improve diagnosis, treatments and clinical care for Leigh’s patients. The LION study at WCMR was one of the awardees.

What is the research team saying?

Dr Albert Lim, the research lead at the WCMR at Newcastle University, said:
"Although our understanding of the symptoms associated with Leigh syndrome has expanded rapidly, it remains unclear how the natural history of this neurodegenerative condition changes in patients over time. Given the potential therapeutic interventions in childhood mitochondrial diseases, we feel that this study is timely and will be of considerable value to the mitochondrial community of patients, clinicians, researchers and the pharmaceutical industry. We're extremely grateful to The Lily Foundation and the LSIC for awarding us this grant, which will enable us to continue with this very promising study."

How can I help?

We are able to fund life-changing research projects like this one thanks to the generosity of our donors and supporters. If you would like to support Lily research, please make a donation. To volunteer, help raise awareness or sign up to a Lily event, click on the 'Get Involved' tab at the top of this page. If you belong to a company or organisation that would like to be involved, please email [email protected]