UK trials and research studies - The Lily Foundation Page 1
The Lily Foundation logo featuring a butterfly, hearts and an 'x' for a kiss

Fighting mito,
finding hope.

UK trials and research studies

Current UK trials and research studies in mitochondrial disease

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

How The Lily Foundation supports 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.

Current UK mitochondrial disease research studies

We’ve gathered together 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 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.

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:
London and Cambridge with more sites to follow
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:
Wellcome Centre for Mitochondrial Research

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 AB

MTRFR/C12orf65 natural history study

This study aims to analyse existing patient data to understand how mitochondrial diseases caused by genetic variants in the MTRFR (previously called C12orf65) gene affect individuals and how they progress in different ways.

Study status:
Currently recruiting
Key criteria:
Individuals of any age with confirmed (or likely) disease causing variants in the MTRFR/C12orf65 gene
Study site:
Cambridge or online from home
Study sponsor:
Hereditary Neuropathy Foundation

EMERALD pilot study

A study evaluating the tolerability and efficacy of a remote microphone (assisted listening device) in adult participants with mitochondrial disease.

Study status:
Currently recruiting
Key criteria:
Adult patients between the ages of 16 and 70 with a genetically confirmed diagnosis of mitochondrial disease who suffer from mitochondrial disease-related hearing loss
Study site:
Newcastle
Study sponsor:
Newcastle University

Red light ptosis study

This study tests a new treatment to help with droopy eyelids (ptosis) and eye movement problems (squint) in mitochondrial disease patients using red light.

Study status:
Currently recruiting
Key criteria:
Children aged 3 - <18years with a genetically confirmed diagnosis of mitochondrial disease and ptosis (lid-droop)
Study site:
London
Study sponsor:
UCL Institute of Opthalmology

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