Spinocerebellar Ataxia Type 27B Natural History Study (SCA27B-NHS)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 9
- 主要终点
- Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 99 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
SCA27B risk subjects
First-degree relatives at risk for SCA27B, both with known and unknown carrier status, will be included to capture presymptomatic disease stages. Target sample size for the risk cohort is 50 participants
Unrelated healthy controls
Unrelated healthy controls may undergo the same study procedures as the SCA27B cohort to determine age-related effects on the multimodal outcomes. Target sample size for the control cohort is 50.
SCA27B
Participants with genetically confirmed SCA27B (OMIM 620174), i.e. ≥250 uninterrupted GAA repeat expansions in FGF14, will be recruited. Target sample size for the SCA27B cohort is 200 participants.
结局指标
主要结局
Friedreich Ataxia Rating Scale - Neurological Examination Part E (upright stability) from baseline to 2-year follow-up
时间窗: 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.
次要结局
- Change of Scale for the Assessment and Rating of Ataxia (SARA) from baseline to 2-year follow-up(24 months)
- Patient Global Impression of Change (PGI-C) from baseline to 1-year and 2-year follow-up(24 months)
- Friedreich Ataxia Rating Scale - Activities of Daily Living (FARS-ADL) from baseline to 2-year follow-up(24 months)
- Digital gait and balance assessment from baseline to 2-year follow-up(24 months)
研究者
Prof. Dr. Matthis Synofzik
Principal Investigator, Leading Consultant
University Hospital Tuebingen