UK trials and research studies - The Lily Foundation Page 2
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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.

Neuropsychiatric and brain imaging of primary mitochondrial diseases

Dr Alessandro Colasanti’s research project aims to understand how the involvement of mitochondria in the brain contributes to psychological symptoms of mitochondrial disease.

Study status:
Currently recruiting
Key criteria:
Any adult with a confirmed or suspected mitochondrial disease
Study site:
Brighton
Study sponsor:
University of Sussex & University College London (UCL)

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)

ION-PROM study

The aim of this study is to develop a questionnaire for individuals with an inherited optic neuropathy, to report their experience of living with their condition and to assess their quality of life.

Study status:
Currently recruiting
Key criteria:
Individuals with a genetic diagnosis of LHON or DOA, aged 16 years and older, and with symptoms of their condition
Study site:
Cambridge or online from home
Study sponsor:
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge

Mito ataxia study

This study aims to measure and track cerebellar ataxia in patients with mitochondrial disease.

Study status:
Currently recruiting
Key criteria:
Patient participants must be between the ages of 16 and 70 years, with a genetically proven diagnosis of mitochondrial disease
Study site:
Newcastle
Study sponsor:
Newcastle upon Tyne NHS Foundation Trust (NuTH)

GYM – Generate Your Muscle study

This study will investigate whether stem cell therapy can potentially be used to reduce the levels of m.3243A>G mutation in the muscles in mitochondrial disease patients.

Study status:
Currently recruiting in the Netherlands
Key criteria:
Patient participants must be between the ages of 18 to 65 years of age, with a confirmed diagnosis of Primary Mitochondrial Disease caused by the 3243A>G mutation in mitochondrial DNA
Study site:
Maastricht, the Netherlands
Study sponsor:
Maastricht UMC, Netherlands

COGSTATE study

This is a pilot study to assess whether computerised methods of cognitive assessment correlate with traditional methods of assessment of patients with mitochondrial disease.

Study status:
Active, not currently recruiting
Key criteria:
Adult patients aged 18+, with a confirmed genetic diagnosis of mitochondrial disease and who are willing to participate in research activity
Study site:
Newcastle
Study sponsor:
Newcastle upon Tyne NHS Foundation Trust (NuTH)

REaLMS – Red Light in Mitochondrial disease Study

This study will test whether exposure to a specific frequency to red light improves muscle function and mobility in mitochondrial disease patients with fatigue.

Study status:
Active, not currently recruiting
Key criteria:
Adult patients aged between 19 and 59 years old, with a confirmed genetic mutation in their mitochondrial DNA
Study site:
Oxford
Study sponsor:
Oxford Brookes University