Principal researchers: Dr Winfried Ilg, Kristina Bohn and Prof Matthis Synofzik, University of Tübingen (Germany)
Lay summary
Current rehabilitation programmes for spinocerebellar ataxias (SCAs) mainly target those in the moderate or advanced stages of disease severity, when symptoms have progressed. This research team aims to test a rehabilitation programme in those with early stages of SCA, before neurodegeneration occurs. Research in mice with SCA has shown that intensive motor exercise can delay symptom onset and even reduce neurodegeneration.
In this project, the researchers aim to test a home-based personalised intensive exercise programme of three 30–40-minute sessions per week for six weeks in 30 people with SCA (15 with early-stage SCA and 15 who have not yet developed symptoms). The programme will be delivered via a smartphone app. Exercises will be adapted to each person’s ability and will target core stability and balance. They will measure how well the programme benefits balance, walking and daily activities through clinical tests, digital assessments using wearable sensors and patient-reported outcomes. The team will also collect blood samples to measure a marker of neurodegeneration called NfL to see if the exercise programme can protect against some of the neurodegeneration in SCA.
Scientific summary
Current rehabilitation programmes for spinocerebellar ataxias (SCAs) mainly target those in the moderate or advanced stages of disease severity, when symptoms have progressed. No training studies have been carried out in those with early-stage and pre-symptomatic SCA. Mouse models of SCA have shown that motor exercise can delay onset and reduce neurodegeneration at the neuronal level. The early stages of the condition could offer a promising window for treatment onset, before substantial neurodegeneration occurs.
This research team aims to test intensive and personalised home-based motor training (30-40-minute sessions three time per week for six weeks) in 15 pre-ataxic people with the SCA mutation (SARA < 3) and 15 people with early-stage SCA (SARA <= 8). Sessions are based on sports science rehabilitation and will be split into two parts: part one focusing on core stability exercises and part two focusing on balance. These will be delivered through a smartphone app that integrates exercise guidance and post-session questionnaires. Outcome measures will include the patient-reported outcome measures (ABC-scale, PROM-ataxia and the Goal Attainment Scale), digital assessments using wearable sensors, as well as clinical assessments of gait and balance. To measure the impact of the programme on neurodegeneration in SCA, the researchers will measure NfL levels in the blood.
