UK mitochondrial disease trials and research studi… - The Lily Foundation
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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.

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

MitoCareConnect study

This study aims to capture the impact, challenges and unmet needs that unpaid and bereaved caregivers face when caring for an adult with a diagnosis of mitochondrial disease.

Study status:
Currently recruiting
Key criteria:
Individuals 18 years or older with current or past experience of caring for a person aged 16 or over with a diagnosis of Primary Mitochondrial Disease
Study site:
Online from home
Study sponsor:
Newcastle upon Tyne NHS Foundation Trust (NuTH)

C4TR-POLG study

This study aims to improve clinical trials for mitochondrial disease, specifically for POLG-related diseases which often cause balance and co-ordination issues. The goal is to find the best way to measure and track symptoms over time, helping clinicians to evaluate potential treatments more accurately.

Study status:
Currently recruiting
Key criteria:
Individuals aged between 16 and 75 years with a confirmed genetic diagnosis of POLG-related mitochondrial disease
Study site:
Newcastle
Study sponsor:
The POLG 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

R-PROMS study

This study aims to investigate whether online assessments can be used to measure the severity of ataxia (movement, balance and co-ordination difficulties) in adults with mitochondrial disease and Spinocerebellar Ataxia.

Study status:
Currently recruiting
Key criteria:
Adults aged over 16, with a confirmed diagnosis of mitochondrial disease OR Spinocerebellar Ataxia
Study site:
Newcastle
Study sponsor:
Newcastle University (UK) and Monash University (Australia)

ORION study: Outcomes Research in Inherited Optic Neuropathies

The aim of this study is to understand how an inherited optic neuropathy progresses over a certain time period.

Study status:
Currently recruiting
Key criteria:
Individuals must have a genetic diagnosis of an inherited optic neuropathy, aged 16 years or older, ideally with vision loss duration of 10 years or less
Study site:
Cambridge
Study sponsor:
Cambridge University Hospitals NHS Foundation Trust and The University of Cambridge

EXPLORE study

Exploring the eXperience of Patients and caregivers Living with mitOchondRial stroke-like Episodes.

Study status:
Currently recruiting
Key criteria:
People with mitochondrial disease who experience Stroke-Like Episodes and people who live with, or have cared for, people who experience SLE’s
Study site:
Newcastle or online from home
Study sponsor:
Newcastle University

TRANSFORM study

This study tests a new treatment for focal refractory epilepsy in patients with mitochondrial disease, called transcranial direct current stimulation (or tDCS).

Study status:
Currently recruiting
Key criteria:
Participants must be aged 2 years or over, with a genetically proven mitochondrial disease, drug-resistant epilepsy and anatomically relevant changes defined by neuroimaging and/or scalp EEG
Study site:
Newcastle
Study sponsor:
Newcastle upon Tyne NHS Foundation Trust (NuTH)