FA Balance & Gait Study
Research type
Research Study
Full title
A Longitudinal Laboratory and Real-world Study of Gait and Balance in People with Friedreich’s Ataxia
IRAS ID
328273
Contact name
Yi Shiau Ng
Contact email
Sponsor organisation
Newcastle University
Duration of Study in the UK
1 years, 11 months, 31 days
Research summary
Friedreich’s ataxia (FA) is an inherited genetic condition that affects the nervous system, specifically the cerebellum and peripheral nerves.
People with FA experience progressive ataxia, encompassing symptoms related to incoordination of movements due to cerebellar dysfunction, such as unsteadiness, abnormal walking pattern (broad-based gait), slurred speech, swallowing impairment, as well as muscle weakness and sensory disturbances due to nerve damage (neuropathy). Some patients develop additional non-neurological symptoms, such as diabetes mellitus and abnormal heart function (cardiomyopathy). Many people with FA live with significant physical disability and reduced life expectancy, and there is no currently no cure.
There are major hurdles to performing clinical trials in rare diseases (such as FA), for example, outcome measures that are not sensitive to detect changes over a short time frame. Moreover, there are small patient numbers available for study recruitment with marked variations in disease severity commonly observed between patients.
This observational pilot study aims to evaluate several new methods of assessment for FA (including instrumented assessment in a specialist gait laboratory and wearable devices) which may offer more objective measurement of ataxia compared to currently used outcome measures. In addition, we plan to investigate whether gait and balance assessments in laboratory and habitual environments show a consistent pattern. Furthermore we aim to study whether instrumented gait and balance assessments are sensitive enough to measure changes in FA over a year (disease progression) compared to commonly used outcome measures.
We aim to recruit participants aged 14-65 years with a confirmed genetic diagnosis of FA. They will be identified via adult neurology, paediatric and cardiology services within the Newcastle upon Tyne Hospitals NHS Foundation Trust. Three study visits will be scheduled over a 12-month period.
REC name
East of England - Cambridge South Research Ethics Committee
REC reference
23/EE/0173
Date of REC Opinion
30 Aug 2023
REC opinion
Further Information Favourable Opinion