Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
ConditionSpinocerebellar Ataxia Type 27B
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-99
SponsorUniversity Hospital Tuebingen
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
SCA27B: genetic diagnosis of ≥250 uninterrupted GAA repeat expansions in FGF14
SCA27B risk subject: asymptomatic first-degree relative of SCA27B participant with known or unknown carrier status
Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND
Written informed consent AND
Disqualifiers
SCA27B: Missing informed consent
SCA27B risk subjects: Missing informed consent
Unrelated healthy controls: Missing informed consent, or concurrent neurological, orthopedic, or other diseases interfering with the motor assessments
Trial population
This study enrolls participants with clinically manifest and genetically confirmed SCA27B and first-disease relatives at-risk for SCA27B, as well as healthy unrelated controls to contrast unspecific, age- or sex-related findings to disease-related specific findings.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
300 Participants
are grouped into 3 trial groupsGroup A: SCA27B
Group B: SCA27B risk subjects
Group C: Unrelated healthy controls
Trial outcomes
Primary outcomes
1
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.
Time frame
24 monthsSecondary outcomes
1
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.
Time frame
24 months2
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.
Time frame
24 months3
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.
Time frame
24 months4
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.
Time frame
24 monthsOther outcomes
1
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.
Time frame
24 months2
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.
Time frame
24 months3
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.
Time frame
24 monthsSponsors and contacts
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Source ClinicalTrials.gov