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NCT Number: NCT06472557

Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)

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.

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Key information

Conditions

Spinocerebellar Ataxia Type 27B Ataxia Dyskinesias Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

18 year–99 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Neurology, Motol University Hospital, Second Faculty of Medicine, Charles University, Prague, Czechia

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About this study

The investigators will perform an international, multi-center, multi-modal, and registry-based standardized prospective Natural History Study (NHS) in Spinocerebellar Ataxia Type 27B (SCA27B), including the presymptomatic phase of the disease (i.e. presymptomatic subjects at risk for SCA27B). Participants will be assessed annually. Clinical data, including clinician-reported outcomes and patient-focused outcomes, will be entered into a clinical database customized to the requirements of this specific study (SCA27B Registry; www.ataxia-registries.org). Digital-motor outcomes comprise digital gait assessment by wearable sensors, and digital assessment of upper limb movements by Q-Motor. At all study visits, participants will be asked to donate biosamples; and participants can elect to participate in sampling of blood, urine, CSF, and/or a skin biopsy. Based on this multimodal protocol, the study aims to determine the most sensitive, comprehensive, and reliable outcome measures for future therapeutic trials in SCA27B.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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
  • Participants are willing and able to comply with study procedures

Exclusion criteria

  • 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

Treatment and study plan

Primary outcomes

  1. Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up

    Time frame: 24 months

    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.

Secondary outcomes

  1. Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up

    Time frame: 24 months

    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.

  2. Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up

    Time frame: 24 months

    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.

  3. Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up

    Time frame: 24 months

    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.

  4. Digital gait and balance assessment from baseline to 2-year follow-up

    Time frame: 24 months

    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.

Other outcomes

  1. Activities-specific Balance Confidence Scale (ABC Scale) from baseline to 2-year follow-up

    Time frame: 24 months

    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.

  2. Friedreich Ataxia Rating Scale - Functional Staging from baseline to 2-year follow-up

    Time frame: 24 months

    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.

  3. Digital assessment of upper limb movement from baseline to 2-year follow-up

    Time frame: 24 months

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Andreas Traschütz, Dr. Dr.

CONTACT

[email protected]

+49 7071 29 ext. 61890

Matthis Synofzik, Prof. Dr.

CONTACT

[email protected]

+49 7071 29 ext. 82060

Sponsors and collaborators

Lead sponsor

University Hospital Tuebingen

Other

Registry information

Important dates

Study start
2024
Primary completion
2028
Study completion
2028
First posted
Jun 25, 2024
Registry last updated
Apr 6, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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