Vestibular dysfunction in mitochondrial disease
Research type
Research Study
Full title
The development, sensitivity, and specificity analysis of a decision-making vestibular dysfunction assessment framework for people with mitochondrial disease.
IRAS ID
274363
Contact name
Robert Pitceathly
Contact email
Sponsor organisation
University College London Hospitals NHS Foundation Trust
Clinicaltrials.gov Identifier
552889, UCL Project Code; Z6364106/2019/12/11 , UCL Data Protection Registration number
Duration of Study in the UK
1 years, 2 months, 29 days
Research summary
Research Summary:
Mitochondrial disease is one of the most common inherited neurological conditions. It can affect many different parts of the body and cause a wide range of symptoms. Balance problems are very common and are usually because of damage to the brain or nerves.
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 balance problems for each person.
A recent study found problems with the inner ear were a common cause of dizziness and balance problems in people with mitochondrial disease. This is the first time this has been shown.We know from research that physiotherapy for inner ear problems can reduce falls, dizziness and improve balance. People with mitochondrial disease could have an important opportunity to access targeted physiotherapy to improve symptoms and quality of life.
No diagnostic tools are currently available for people with mitochondrial disease reporting dizziness or balance problems. We have started to put together a decision-making tool as a framework to guide assessment and treatment. This tool could help doctors and physiotherapists identify the cause of balance and dizziness problems, in people with mitochondrial disease. This will help people to access treatment quickly.
This study will develop a decision-making tool together with people with mitochondrial disease, that have dizziness or balance problems. The tool will be further developed and refined by a group of experts. The tool will then be tested with 100 people, to make sure it accurately identifies the cause of balance and dizziness problems for each person with mitochondrial disease. The tool can then be used in clinics more widely to help people with mitochondrial disease.
Summary of Results:
Background Mitochondrial disease is one of the most common inherited neurological conditions. It can affect many different parts of the body and cause a wide range of symptoms. Dizziness and balance problems are very common. These are usually because of damage to the brain or nerves.
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 doctors and physiotherapists to identify the cause of dizziness and balance problems for each person.
A previous study found problems with the inner ear were a common cause of dizziness and balance problems in people with mitochondrial disease. This was the first time this was shown. We know from research that physiotherapy for inner ear problems can reduce falls, dizziness and improve balance. People with mitochondrial disease could therefore access targeted physiotherapy to improve symptoms and quality of life.
No decision-making tools are currently available for people with mitochondrial disease reporting dizziness or balance problems. We aimed to develop a tool to help doctors and physiotherapists identify the cause of dizziness and balance problems, in people with mitochondrial disease. This will help people to access treatment quickly.
Methods:
• People with mitochondrial disease were asked to describe their dizziness or balance problems. These words were included in the decision-making tool.
• Experts identified six questions for the decision-making tool.
• A large group of people living with mitochondrial disease were asked the questions from the decision-making tool.
• The same people completed routine clinical tests of the inner ear.
• The results of the decision-making tool were compared to routine clinical assessments. This checked how well the decision-making tool made the correct diagnosis.Conclusions:
The decision-making tool had good ability to rule out inner ear causes of dizziness and balance problems.
This quick and simple tool will be helpful to identify those who will benefit from specific targeted treatment. This will help people with mitochondrial disease access treatment as quickly as possible, without the need to wait for specialist testing.
REC name
Yorkshire & The Humber - Bradford Leeds Research Ethics Committee
REC reference
20/YH/0014
Date of REC Opinion
12 Feb 2020
REC opinion
Favourable Opinion