Vestibular Dysfunction in Mitochondrial Disease Study

What is this study about?

Different parts of the body can affect how well we balance, and mitochondrial disease can affect these different parts. It can therefore be difficult for medical professionals to identify the cause of these balance problems for each person.

A recent study found problems with the inner ear system were a common cause of dizziness and unsteadiness. This is the first time this has been shown in a large group of people with mitochondrial disease. We know from research that physiotherapy for inner ear problems can reduce falls and improve balance. Patients with mitochondrial disease could therefore have an important opportunity to access targeted physiotherapy to improve symptoms and quality of life.

The diagnosis of the cause of dizziness or unsteadiness can be complicated in people with mitochondrial disease. We have developed a diagnosis tool as a framework to guide assessment and treatment. This framework could help doctors and physiotherapists identify the cause of balance problems and allow quick access to rehabilitation.

Experts and patients have helped to develop and refine this framework. The framework will be tested with 100 patients to ensure it reliably guides decisions, so it can then be used more widely to help people with mitochondrial disease.

Who can take part?

People aged 16 years old or over who have a confirmed diagnosis of mitochondrial disease, who are seen by the mitochondrial disease service at the National Hospital for Neurology and Neurosurgery in London can take part. If you are not seen by this team in London, and would like to take part in this study, you can ask your GP to make a referral to the service. The Doctors in this service will need to assess you before you can be considered for this study.

What's involved in taking part?

100 people with mitochondrial disease will undergo detailed tests of their hearing and balance systems. The same 100 people will be questioned in line with the framework. Tests will be carried out in your home by one of the research team, and will last around 4 hours. You will also be contacted by telephone, e mail or video by a member of the research team on a separate occasion. Questionnaires and assessments will be completed in this remote consultation.

The research team will compare test results with framework questions. This will tell us assess if the framework accurately and reliably guides decisions about the cause of dizziness and unsteadiness in people with mitochondrial disease.

We would like people with a confirmed diagnosis of mitochondrial disease to contact us if they are interested in taking part in this study, and if they are happy to be under the care of the mitochondrial disease service at the National Hospital for Neurology and Neurosurgery in London.

Are there any risks?

People involved in testing may feel more tired and may feel dizzier or unsteady during testing. There are no other risks to taking part.

Who will benefit?

There is no direct benefit to you taking part in the study, other than the opportunity to have balance assessments completed within your home rather than needing to travel to the hospital for these tests. If any balance tests are abnormal, you will be referred for treatment as you would as part of routine clinical care.

By developing and testing this framework it is hoped that people with dizziness and balance problems will be able to access targeted therapy intervention more easily. This will then help to reduce symptoms, improve balance and safety, reduce falls and improve quality of life.

How do I find out more?

If you think you are interested, or would like to know more, please contact the research team directly on:

Research physiotherapist: Amanda Male
Tel: 0203 448 3194
Email: [email protected]

Research physiotherapist: Sarah Holmes
Tel: 0203 448 8012
Email: [email protected]