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A pilot study testing a potential treatment for mitochondrial myopathy

Dr Spinazzola and colleagues at University College London (UCL) and Newcastle University are carrying out a pilot study testing a potential treatment in people with mitochondrial disease.
Principal Investigator
Dr Antonella Spinazzola
University College London
Two years
Total cost
Mitochondrial myopathy


Before the pilot study starts, Dr Spinazzola and her team have been undertaking important pre-clinical work using cells grown in the laboratory. This includes establishing the method that will be used to measure how effective the chemical is in participants of the study (this will be done by biomarker analysis). They have also confirmed the minimum dose required. This work has informed the design of the clinical study and will help to identify the most effective dose in humans. The team has been preparing for recruitment of the participants, which will be done through the Medical Research Council Mitochondrial Disease Patient Cohort based in Newcastle and London.

During the first year of the project the researchers have improved the understanding of how the chemical reduces the amount of mutated mitochondrial DNA in cells, this is important for informing future drug development. The team has also identified another chemical that reduces the proportion of mutated mitochondrial DNA in the cell. This chemical requires further research, but could also be a potential treatment for people with mitochondrial myopathies.


Mitochondria are the parts of the cell that convert most of our food into a usable form of energy. They contain their own DNA, known as mitochondrial DNA, which is inherited from the mother, and is essential for this energy conversion process. If there is a mutation in mitochondrial DNA, the mitochondria will not work properly and many different body systems can be affected. Tissues that use a lot of energy are most severely damaged and, in the case of muscle, this causes weakness, pain and fatigue.

In each cell, there are many copies of mitochondrial DNA and these are usually all identical. However, when a mutation occurs, it may affect some, but not all, the copies. If the proportion of mutated mitochondrial DNA is low then the effects on health may be minimal or non-existent, but once it reaches a certain threshold level then symptoms will appear. Generally speaking, the higher the proportion of mutated mitochondrial DNA, the more severe and extensive the symptoms. Dr Spinazzola and colleagues have recently identified a chemical that promotes the normal but not the mutated mitochondrial DNA in cells in the laboratory. This leads to an increase in the number of healthy mitochondria.

What are the aims of the project?

The main aim of this project is to test this chemical in people with the most common form of mitochondrial disease (caused by a specific mutation, m.3243A>G). The researchers will investigate whether the chemical can find its way to muscle and whether it has the same effect in the body, as it does on cells grown in the laboratory.

This pilot study will take place at the Leonard Wolfson Experimental Neurology Centre*, part of University College London Hospitals NHS Foundation Trust, with the participation of clinicians and scientists of the National Hospital for Neurology London and the Newcastle upon Tyne Hospitals NHS Foundation Trust. The chemical will be given by mouth. Throughout the study, the researchers will carefully monitor the participants to determine if the treatment is well tolerated and if the chemical decreases the proportion of mutated mitochondrial DNA.  For these purposes, blood, urine and muscle biopsy samples will be collected at specific time points. The participants will have clearly defined, genetically confirmed disease, and will be recruited through the Medical Research Council Mitochondrial Disease Patient Cohort based in Newcastle and London.

Why is this research important?

This study is essential for establishing the potential benefits of the chemical. Although the treatment showed promising results in cells grown in the laboratory, this is a very different situation to the human body. This small-scale study will provide important information for future clinical trials, such as optimal dosing and safety.

How will the outcomes of this research benefit people with mitochondrial myopathy?

If the chemical is well tolerated and has positive effects on the mitochondria, long-term clinical trials will be investigated to see if the compound could be an effective treatment for people with the m.3243A>G mutation, a condition for which there is currently no cure.

How might this research impact on other neuromuscular conditions?

The chemical could potentially be beneficial for people with other mitochondrial diseases.

Grant information

Project leader: Dr Antonella Spinazzola

Location: University College London

Conditions: Mitochondrial myopathy

Duration: Two years, starting 2018

Total project cost: £146,520

* Through additional support from the Lily Foundation, this trial will now take place at the Leonard Wolfson Experimental Neurology Centre, which has expertise in experimental medicine studies and early phase clinical trials. Participants will benefit from continuous monitoring and a state of the art purpose-built facility. Muscular Dystrophy UK is proud to be working with the Lily Foundation to facilitate this enhancement to the pilot study.

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