Adult SMA REACH: Development and Implementation of a Standardised Data Set and Data Collection Research Study in the UK Adult SMA Population
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 600
- 试验地点
- 18
- 主要终点
- World Health Organization (WHO) Motor Milestones
研究概览
简要总结
Adult SMA REACH is a data collection study aiming to gain a better understanding of the impact of standards of care and new treatments on the natural history of Spinal Muscular Atrophy (SMA). This study is sponsored by The Newcastle upon Tyne Hospitals NHS Foundation Trust. Adult SMA REACH is funded by Biogen and Roche.
Currently, there are three drug treatments available for SMA in the UK: Zolgensma, Nusinersen and Risdiplam. Zolgensma is the only approved drug - Nusinersen and Risdiplam are currently available as part of Managed Access Agreements (MAA).
详细描述
Spinal muscular atrophy (SMA) is a genetic motor neuron disease with a broad spectrum of severity, affecting both infants and adults. Advances in treatment, including Nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and Risdiplam (Evrysdi), have significantly improved patient outcomes, highlighting the need for stronger clinical networks to monitor the long-term effects of these therapies.
The Adult SMA REACH Study builds upon the success of SMA REACH UK, which has been instrumental in collecting natural history and treatment data for paediatric SMA patients. The study benefits from collaboration with TREAT-NMD, the UK SMA Patient Registry, and iSMAC, aligning with international efforts to harmonise SMA data collection. By leveraging Newcastle University's experience in global SMA initiatives, Adult SMA REACH aims to enhance patient care, inform clinical decision-making, and contribute to future SMA research.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age ≥16 years (when patients will begin the transition process to adulthood)
- •Genetically confirmed diagnosis of 5q SMA
- •Signed informed consent to take part in the study
排除标准
- •Non-5q SMA
- •No genetic confirmation
- •<16 years of age
- •No signed informed consent or consent withdrawn
研究组 & 干预措施
Participants with Spinal Muscular Atrophy
Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.
干预措施: Risdiplam (Drug)
Participants with Spinal Muscular Atrophy
Participants over 16 years old with a genetically confirmed diagnosis of 5q SMA.
干预措施: Nusinersen Injectable Product (Drug)
结局指标
主要结局
World Health Organization (WHO) Motor Milestones
时间窗: Baseline (at treatment initiation) and 6 monthly through study completion
The WHO motor milestone assessment is a six-item checklist that dichotomously assesses whether a child can sit independently, crawl, stand with/without support, and walk with/without support. It is used in the Adult SMA population and in this study to categorise individuals as 'non-sitters', 'sitters' or 'walkers'. Changes in this score (loss or gain in function) and maintenance of score from baseline throughout treatment duration is assessed.
Revised Upper Limb Module (RULM)
时间窗: Baseline (at treatment initiation) and 6 monthly through study completion
The RULM is designed to capture upper limb function and consists of 19 items, and is scored out of 37 points (higher scores indicating better function).
6 Minute Walk Test (6MWT)
时间窗: Baseline (at treatment initiation) and 6 monthly through study completion
The 6MWT, which measures the distance a patient is able to walk within 6 min is used for only ambulant adult SMA patients in this study.
The Hammersmith Functional Motor Scale Expanded (HFMSE)
时间窗: Baseline (at treatment initiation) and 6 monthly through study completion
The HFMSE consists of 33 items, with a maximum of 66 points (higher scores indicating better function).
The Egen classification 2 (EK2) scale
时间窗: Baseline (at treatment initiation) and 6 monthly through study completion
The EK2 is a functional scale that includes 17 items for eight daily-life categories (wheelchair use, wheelchair transfers, trunk mobility, eating, swallowing, breathing, coughing, fatigue). Each item is scored from 0 to 3 for a maximum of 51 points (higher scores indicating worse function).
次要结局
未报告次要终点
研究者
Chiara Marini Bettolo
Consultant Neurologist and Clinical Lead
Newcastle-upon-Tyne Hospitals NHS Trust