A Non-Interventional, Multi-Center Study Investigating the Outcomes of Risdiplam in Type I and Type II Spinal Muscle Atrophy Patients
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12
研究概览
简要总结
This multicenter, non-interventional, prospective study with a retrospective component aims to evaluate the real-world clinical outcomes, safety profile, and motor function improvements of Risdiplam treatment in participants with Type I and Type II Spinal Muscle Atrophy over 24 months of treatment.
The study will allow retrospective collection of medical history data and previous participants visits from the medical records.
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
- — 至 5 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Maximum age to be 6 months for type I participants and 5 years for type II participants at the time of diagnosis.
- •Participants must start/have started treatment with Risdiplam within 6 months of diagnosis.
- •Participant to be receiving adequate nutrition and hydration at index date, in the opinion of the Investigator.
- •Participant to be adequately recovered from any acute illness at the time index date.
排除标准
- •Participants not receiving treatment for disease with Risdiplam according to standard of care and in line with the current summary of product characteristics (SPC)/local labeling.
- •Participants not receiving the Roche studied medicinal product, but a biosimilar.
- •Concomitant or previous administration in any investigational drug or device study.
- •Concomitant or previous administration of approved treatment for SMA other than Risdiplam.
- •Unstable gastrointestinal, renal, hepatic, endocrine or cardiovascular system diseases at index date.
- •Participants requiring invasive ventilation or tracheostomy at index date.
- •Participants requiring awake non-invasive ventilation due to respiratory insufficiency or with awake hypoxemia with or without ventilator support or with history of respiratory failure or severe pneumonia, and have not fully recovered their pulmonary function at the time of index date.
- •Severe contractures of joints of lower limbs and upper limbs at the time of index date.
研究组 & 干预措施
Risdiplam Observational Arm
Data will be collected before, during and after treatment from participants who receive risdiplam treatment according to standard of care and Summary of Product Characteristics (SmPC). Participant data will be collected only during routine clinical interactions, with no additional study visits mandated.
结局指标
主要结局
Change From Index Date in Hammersmith Functional Motor Scale Expanded (HFMSE) Score at Months 12
时间窗: Baseline, Months 12
HFMSE assessment is performed for participants who are ≥ 2 years and are sitters or walkers. Items on the original HFMS were expanded to capture higher functioning in SMA patients using 13 relevant additional items adapted from the gross motor function measure (GMFM) with their scoring adapted to a three-point scale as in the original HFMS. The score ranges between 0 - 66, a higher score indicates a higher level of function. The index date (D1) is when the participant was administered the first dose of Risdiplam.
Change From Index Date in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) Score at Month 12
时间窗: Baseline, Month 12
CHOP-INTEND assessment is performed for participants aged \<2 years or aged \>2 years who are not able to sit \> 10 seconds as defined by the World Health Organization (WHO). Information regarding the 16 items in the CHOP-INTEND motor assessment are to be collected. It includes both active movements, spontaneous or goal-oriented items and of reflexive movements. It assesses head, neck, and trunk as well as proximal and distal limb strength. The score ranges from 0-64, higher scores representing better motor function outcomes. The index date (D1) is when the participant was administered the first dose of Risdiplam.
次要结局
- Percentage of Participants with CHOP-INTEND Score ≥ 40 at Months 12 and 24(At Months 12 and 24)
- Change From Baseline in HFMSE Score at Month 24(Baseline, Month 24)
- Number of Participants who Require Ventilatory Assistance(Up to 2 years follow-up per participant)
- Duration of Ventilation(Up to 2 years follow-up per participant)
- Time Until Permanent Ventilation(Up to 2 years follow-up per participant)
- Overall Survival at Month 24(At Month 24)
- Ventilation-free Survival(Up to 2 years follow-up per participant)
- Change From Baseline in Growth Pattern(Up to Month 24)
- Number of Participants With Musculoskeletal Abnormalities(Up to Month 24)
- Time to Loss of Swallowing Function Assessed by the Study Physician(Up to Month 24)
- Bulbar Function as Assessed by the Study Physician Versus Baseline(Up to Month 24)
- Number of Participants With Adverse Events (AE) Serious Adverse Events (SAE)(Up to 2 years follow-up per participant)
- Change From Index Date in CHOP-INTEND Score at Month 24(Baseline, Month 24)
- Percentage of Participants with CHOP-INTEND Score Improvement ≥ 4 Points Compared to Index Date at Months 12 and 24(Baseline, Months 12 and 24)