UK mitochondrial disease clinical trials and resea… - The Lily Foundation
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Fighting mito,
finding hope.

UK trials and research studies

Current UK clinical trials and research studies in mitochondrial disease

When it comes to mitochondrial disease, The Lily Foundation form a vital connection between families affected by the condition and the scientific community. We like to think of ourselves as the bridge between clinical insights and the personal experiences of patients.

How does The Lily Foundation support research participation?

Through strong partnerships with researchers worldwide, we’re able to provide essential input on study design, research priorities and patient needs. Our relationships with these teams enable Lily patients and families to participate in cutting-edge studies that contribute to advancing treatments and moving closer to a cure.

Are there any UK-based providers offering mitochondrial disease clinical trials?

We’ve gathered together below details of all current mitochondrial disease research studies in the UK, including eligibility criteria and contact information. This resource helps patients and families find studies they may qualify for and feel better informed about participation options. We would always recommend discussing any research participation with your doctor before taking part to ensure you understand any risks and potential benefits.

Why should I participate in mitochondrial disease research?

By joining a research study, patients can play a crucial role in advancing our understanding of mitochondrial disease. Every participant contributes valuable data that brings us one step closer to effective treatments and, ultimately, a cure.

Living with a rare disease, or a parent or carer for someone with a rare disease?

The team at Newcastle University want to understand how people living with rare diseases, and their families and carers, hear about, understand and experience clinical trials, whether or not they have ever taken part in one. We are also keen to hear from people whose voices are less often heard in research.

Study status:
Currently recruiting
Key criteria:
Adults aged 18 or over, living with a clinical or genetic diagnosis of a rare disease in the UK, or a parent or carer for someone with a rare disease
Study site:
Online from home
Study sponsor:
LifeArc Centre for Acceleration of Rare Disease Trials

The psychosocial impact on mothers of children with a maternally inherited mitochondrial condition

This qualitative interview study will improve understanding of the emotional and social impact of caring for a child with a maternally inherited mitochondrial condition, helping to inform future support for mothers.

Study status:
Currently recruiting
Key criteria:
Participants must be a mother of a child with a diagnosed maternally-inherited mitochondrial condition and be aged 18 years or over and living in the United Kingdom
Study site:
Online from home
Study sponsor:
This research is organised by Rebecca Greaves as part of the MSc in Genetic and Genomic Counselling at Cardiff University

STARS-mito study

The aim of this study is to find out whether giving amino acids as a supplement to patients with mitochondrial aminoacyl-tRNA synthetase diseases increases the availability of amino acids in the body and therefore improves mitochondrial function.

Study status:
Currently recruiting
Key criteria:
Individuals aged 5 to 18 years old, with a confirmed genetic diagnosis of a mitochondrial disease caused by changes in one of the genes AARS2, EARS2 or DARS2 and who experience symptoms of their disease
Study site:
Cambridge
Study sponsor:
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge

The Invisible Years: Understanding the journey to genetic diagnosis in mitochondrial disease

This international survey explores people’s experiences of reaching a genetic diagnosis of mitochondrial disease, from their first signs and symptoms through investigations and genetic testing, and the impact of this journey on them and their families.

Study status:
Currently recruiting
Key criteria:
People with genetically confirmed primary mitochondrial disease. You must be aged 18 or over to complete the survey, either about yourself or on behalf of your child or another person in your care or family
Study site:
Online, international
Study sponsor:
Funded by UCB. Developed and delivered independently by OpalMedica

How does extreme weather affect people with mitochondrial disease?

This study aims to better understand the experiences of people with mitochondrial disease during adverse weather conditions, such as very hot days, heavy rainfall and flooding.

Study status:
Currently recruiting
Key criteria:
People with any type of mitochondrial disease. A supporter, carer or family member can also complete the survey on behalf of someone affected
Study site:
Online
Study sponsor:
UCLH

MNGIE Retrospective Natural History study

This study aims to collect existing patient data from clinicians worldwide, to understand how the rare mitochondrial disease MNGIE affects individuals, how their disease progresses over time and how current treatments affect them.

Study status:
Currently recruiting
Key criteria:
Clinicians who follow/have followed patients affected by MNGIE, either in a clinical or research setting, who would be willing to share anonymised clinical information via an online secure survey.
Study site:
Online
Study sponsor:
Pierrepont Therapeutics Inc.

KHENERFIN study

KHENERFIN is a Phase 3 clinical trial investigating whether sonlicromanol reduces physical fatigue and improves muscle strength and other symptoms in people with living mitochondrial DNA tRNALeu(UUR) m.3243A>G-related PMD.

Study status:
Currently recruiting
Key criteria:
Adults 18 or over who have genetically confirmed m.3243A>G-related multi-system PMD and chronic fatigue for 3 months or more
Study site:
London
Study sponsor:
Khondrion

Precision Medicine Diagnostics study

Aiming to diagnose individuals with suspected mitochondrial disease who haven’t yet received an NHS diagnosis, this study also looks to help accelerate the adoption of advanced genetic technologies into the NHS.

Study status:
Currently recruiting
Key criteria:
Individuals with a high likelihood of having primary mitochondrial disease, including individuals with a ‘variant of uncertain significance’ in a mitochondrial gene
Study site:
Various
Study sponsor:
The Lily Foundation

FALCON study

The FALCON study is investigating whether the study medicine, KL1333, improves fatigue levels and physical abilities of people living with mitochondrial disease.

Study status:
Currently recruiting
Key criteria:
Adults aged 18 years and over with a confirmed disease-causing mutation in the mitochondrial DNA, with muscle weakness and/or exercise intolerance
Study site:
Cambridge, Newcastle and London
Study sponsor:
Abliva-Pharming Technologies