European Registry of Patients With Infantile-onset Spinal Muscular Atrophy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 100
- 试验地点
- 6
- 主要终点
- Change from Baseline in diurnal saturation
研究概览
简要总结
IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory function of patients with infantile-onset spinal muscular atrophy.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Spinal Muscular Atrophy diagnosed in childhood (before 18 months) and genetically confirmed.
- •For patients with SMA type 1: Never acquired independent sitting position (more than 30 seconds, without hand support or any external support)
- •For patients with SMA type 2 or 3: Patient treated with a market approved treatment for SMA or with a treatment in an expanded access program
- •Patients over 18 years of age or parent(s)/legal guardian(s) of patients < 18 years of age not opposed to data collection for research purposes
排除标准
- 未提供
结局指标
主要结局
Change from Baseline in diurnal saturation
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in ventilation use
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in cough assist use
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in survival
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in psychomotor development
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Motor milestones acquired and/or lost
Change from Baseline in the number of lower track infections
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in Forced Vital Capacity
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
Change from Baseline in nocturnal hypercapnia
时间窗: Baseline and then every 6 months until the end of the study, up to 5 years
次要结局
- Change from the beginning of the treatment of the duration of hospitalizations(Since the beginning of the treatment until the end of the study, up to 5 years)
- Change from Baseline of speech impairment(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of the scoliosis occurence(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of wheelchair use(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from the beginning of the treatment of the number of hospitalizations(Since the beginning of the treatment until the end of the study, up to 5 years)
- Change from Baseline of the arthrodesis occurence(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of the number of occupational therapy sessions per week(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from the beginning of the treatment of psychomotor development(Since the beginning of the treatment until the end of the study, up to 5 years)
- Change from Baseline of contractures occurrence(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of Hammersmith Infant Neurological Examination (HINE) score(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of Motor Function Measure (MFM) score(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of Expanded Hammersmith Functional Motor Scale (HFMSE) score(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of the number of balneotherapy sessions per week(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of Clinical Global Impressions - Improvement (CGI-I)(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of feeding status(Baseline and then every 6 months until the end of the study, up to 5 years)
- Change from Baseline of the number of physiotherapy sessions per week(Baseline and then every 6 months until the end of the study, up to 5 years)