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In a recent talk as part of our WCMR Science Seminar Series, Dr Jane Newman provided an update about a study looking into ataxia in mitochondrial disease. Read on to find out more.

Ataxia describes a lack of coordinated movement which can be caused by problems within the nervous system and is one of the many symptoms that can present as part of mitochondrial disease. Ataxia can have a profound effect on the activities of daily living of patients, affecting activities such as walking, dressing, feeding and speech.

In this study, Dr Newman and Dr Yi Ng are looking at different ways of measuring ataxia and how ataxia effects our patient’s day to day lives. To do this, they had planned to recruit 30 patients with mitochondrial disease and 26 healthy participants to undergo several tests 12 months apart. These tests looked at walking, balance and use of arms and allowed us to score the severity of ataxia.

Unfortunately, due to the COVID pandemic, recruitment to the study has been delayed. Therefore, the study has changed slightly with patients now only required to visit Newcastle on one occasion. This will allow them to increase the number of patients recruited and collect more “real life” data; with more patients wearing sensors at home whilst performing their everyday activities. So far, they have recruited 6 patients and 8 healthy participants, and all tests are showing differences in the performance of the two groups.

Why is this important?

The ability to measure symptoms such as ataxia accurately and reliably will allow us to provide patients with advice about whether their symptoms will change over time and how their symptoms will affect them. Also, as potential treatments are developed for mitochondrial disease, we need assessments that can measure any changes in symptoms, better or worse. By doing this study and exploring some of the measures we have at our disposal together with patients we can decide which measures are the best for any future studies.

If would like further information about participating in this study (either as patient participant or control participant) please contact Dr Jane Newman or Dr Yi Ng using the email: mito.ataxia.study@newcastle.ac.uk.

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