Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
NCT Number: NCT06472557
Status: RECRUITING
Study Type: OBSERVATIONAL
Conditions: Spinocerebellar Ataxia Type 27B
Sponsor: University Hospital Tuebingen
Sex: ALL
Age: ADULT, OLDER_ADULT
Enrollment: 300
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-06-04
Completion Date: 2028-12-31
Locations: Center for Neurology & Hertie-Institute for Clinical Brain Research, Dept. for Neurodegenerative Diseases, Tübingen, Baden-Württemberg, 72076, Germany|Department of Neurology & Center for Translational Neuro- and Behavioral Sciences, Essen University Hospital, University of Duisburg-Essen, Essen, Nordrhein-Westfalen, 45147, Germany|Department of Neurology, Donostia University Hospital, BioGipuzkoa Health Research Institute, San Sebastián, Gipuzkoa, 20014, Spain

Summary:
This international, multi-center, multi-modal, and prospective observational cohort study aims to validate trial outcomes for capturing disease progression in Spinocerebellar Ataxia Type 27B (SCA27B), with combined multi-modal capture of clinical outcome assessments, digital-motor assessments, and molecular biomarkers.

Primary Outcome Measures: Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up, Severity of ataxia in the gait and balance domain will be assessed by application of part E of the neurological examination of Friedreich Ataxia Rating Scale (FARS-E). The total score is calculated as the sum of 7 items, yielding a total score between 0 and 28. Hereby, higher FARS-E scores indicate more severe functional impairment., 24 months
Secondary Outcome Measures: Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up, Severity of ataxia will be assessed by application of the Scale for the Assessment and Rating of Ataxia (SARA). The total score is calculated as the sum of 8 items, yielding a total score between 0 and 40. Hereby, higher SARA scores indicate more severe disease., 24 months|Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up, Impairment in activities of daily living will be assessed by application of the Activities of Daily Living part of the Friedreich Ataxia Rating Scale (FARS-ADL). The total score is calculated as the sum of 9 items, yielding a total score between 0 and 36. Hereby, higher FARS-ADL scores indicate more severe functional impairment., 24 months|Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up, Patient-experienced longitudinal change of ataxia severity will be assessed by asking for the Patient Global Impression of Change (PGI-C) as patient-reported outcome and anchor for longitudinal validation of other outcomes. The PGI-C consists of 7 levels from 1 = very much worse, to 4 = no change, to 7 = very much improved., 24 months|Digital gait and balance assessment from baseline to 2-year follow-up, Gait and balance will be assessed digitally with body-worn sensors (inertial measurement units), which record acceleration or rotational movements during specific gait and balance tasks., 24 months
Other Outcome Measures: Activities-specific Balance Confidence Scale (ABC Scale) from baseline to 2-year follow-up, Balance problems experienced by the participant will be assessed by application of the Activities-specific Balance Confidence Scale (ABC Scale) as patient-reported outcome. The total score is calculated as the average of 16 items, yielding a total score between 0 and 100% confidence in balance. Hereby, lower scores on the ABC Scales indicate more severe disease., 24 months|Friedreich Ataxia Rating Scale - Functional Staging from baseline to 2-year follow-up, Global severity will be assessed by application of the functional staging of the Friedreich Ataxia Rating Scale. The functional staging ranges from 1 (minimal signs detected by physician) to 6 (confined to wheelchair and total dependency). Hereby, higher functional stages indicate more severe functional impairment., 24 months|Digital assessment of upper limb movement from baseline to 2-year follow-up, Motor impairment of the upper and lower limb will be assessed digitally with a quantitative motor examination (Q-Motor) of finger tapping, diadochokinesia and visually guided target reaching., 24 months