UK trials and research studies

When it comes to mitochondrial disease, The Lily Foundation are a key link between families and scientists. In fact, we like to think of ourselves as the bridge between the clinical and the personal.

Researchers from all around the world work closely with us, telling us about their research plans, asking for our research priorities and our input into their study design. Because of this relationship, we’re able to ensure that our Lily patients and families always have the opportunity to be involved in any relevant study recruitment should they wish to take part.

We’ve pulled together information on all the current studies taking place into mitochondrial disease along with eligibility criteria and contact details, should you wish to find out more. It’s important to remember that by taking part in cutting-edge mitochondrial research, you could help play your part in advancing treatments and moving us closer to that all-important cure.

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.

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

NuPOWER (SPIMD-301) study

Stealth Biotherapeutics is conducting a clinical trial in patients diagnosed with primary mitochondrial disease (PMD) to assess the safety and efficacy of the investigational drug Elamipretide.

Study status:: Active, recruitment complete
Key criteria :: Adult patients aged 18 – 70 years with Primary Mitochondrial Disease, muscle wasting and progressive external ophthalmoplegia
Study site:: Cambridge, London and Newcastle
Study sponsor:: Stealth Biotherapeutics

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:: Active, not 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