Risdiplam Exchange in Patients With Spinal Muscular Atrophy (SMA) Previously and Exclusively Treated With Nusinersen
试验速览
- 阶段
- 4 期
- 状态
- 进行中（未招募）
- 发起方
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Comparative intrasubject performance on nine hole peg test (NHPT)
研究概览
简要总结
Risdiplam Exchange (RISE) is a study of spinal muscular atrophy (SMA) patients who crossover to 36 months of open-label risdiplam monotherapy following a comparable period of nusinersen treatment. The schedule of assessments (SOAs) carry over seamlessly for the cohort from studies done while treated with nusinersen and continue to track the most informative outcomes from that trial (e.g. nine hole peg test and grip strength), while adding the Box and Block Test (BBT) as an additional measure of upper limb endurance and function.
详细描述
Risdiplam is an orally bioavailable small molecule that distributes into the central nervous system (CNS) and peripheral tissues where it modifies SMN2 pre-mRNA splicing and increases tissue SMN protein levels. It was approved by the U.S. Food and Drug Administration for all SMA patients older than 2 months of age in August 2020.
Clinical trial data prompted us to consider risdiplam a reasonable alternative to nusinersen administered intrathecally or by subcutaneous intrathecal catheter (SIC) for patients with more advanced SMA. Considered within this clinical context, risdiplam presents a significant advantage by eliminating the risks of mechanical failure, intrathecal bleeding, and CNS infection associated with the SIC device. The schedule of assessments (SOAs) used in this cohort during the previous three-year period as part of a nusinersen study provide us with an established framework for data collection. Thus, the overall clinical experience with risdiplam as compared to nusinersen can be assessed using a prospective, crossover design in a real-world setting.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 35 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Biallelic SMN1 deletions
- •3 or 4 copies of SMN2
- •Prior treatment with nusinersen for a minimum of 22 months
排除标准
- •Prior treatment with SMN gene replacement therapy
- •Prior exposure to another investigational agent.
- •Confounding neuromuscular disorder other than SMA
研究组 & 干预措施
Open-label crossover
Participants crossover to 36 months of open-label risdiplam mono therapy following a comparable period of nusinersen treatment.
干预措施: Risdiplam (Drug)
结局指标
主要结局
Comparative intrasubject performance on nine hole peg test (NHPT)
时间窗: 36 months
Time in seconds to place and subsequently remove nine one inch pegs in holes assessed in dominant and non dominant hands
次要结局
- Intrasubject changes in lower limb and overall motor function(36 months)
- Intrasubject changes in upper limb motor function(36 months)
- Intrasubject change in pulmonary function(36 months)
- Frequency and type of adverse events(36 months)
- Comparative intrasubject change in grip strength(36 months)
研究者
Kevin A. Strauss, MD
Medical Director
Clinic for Special Children