A Prospective, Longitudinal and Decentralised Study Investigating the Motor Development of Patients With Spinal Muscular Atrophy Identified by Newborn Screening Age 4 Years and Below: Active-NBS UK.
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 90
- 试验地点
- 1
- 主要终点
- To validate clinical outcome measures in patients with SMA from 4 months of age.
研究概览
简要总结
Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth.
Medicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. However, some patients may show symptoms by the time they receive treatment. This means that even with early diagnosis, they might still develop muscle weakness despite treatment. The investigators want to see when the movements of patients diagnosed at birth differ from normal development. This information will help identify the best time to give additional medicines currently being developed to support the muscle.
The investigators will track the progress of up to 60 patients over a maximum of 30 months using wearable technologies which are worn at home. The investigators aim to validate their outcomes for use in this age group. The wearable devices are called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU).
They will be worn at regular intervals during the study and will not involve extra hospital visits for patients. The study will also recruit up to 30 healthy control participants and follow them for up to 30 months. This will help define normal development with use of the Syde device.
Active-NBS will be conducted in the UK and internationally using a federated data model. Collaborative sites will collect harmonised data in accordance with the Active-NBS protocol, with data integration and oversight managed by the University of Oxford. International sites may contact the Oxford study team to establish collaboration.
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 4 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •(Test cohort):
- •Genetically confirmed SMA and number of SMN2 copies available
- •a. Patients identified by NBS and treated with disease modifying therapy (DMT)
- •(2)a,i 4 copies or more of SMN2 and not treated with DMT
- •(2)a,ii less than 4 copies of SMN2 and not treated with DMT
- •(2)b. Patients diagnosed due to a sibling or alternative means
- •(2)b,i 4 copies or more of SMN2 and not treated with DMT
- •(2)b,ii less than 4 copies of SMN2 and not treated with DMT
- •(3)Patients between 4 months and below 4 years at baseline. Inclusion of patients can be before 4 months of age
- •(4)Parent(s)/legal guardian(s) able to provide written informed consent prior to the patient's participation in the study
- •(5)Male or female
排除标准
- •(Test cohort):
- •Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
- •Currently enrolled in an experimental treatment study
- •Inclusion criteria (Control):
- •Typically developing child
- •Participant between 6 months and 4 years at inclusion
- •Parent(s)/legal guardian(s) able to provide written informed consent prior to the participation in the study
- •Male or female
- •Exclusion criteria (Control):
- •(1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
研究组 & 干预措施
Control cohort
Typically developing children below 4 years of age between 6 months and 4 years of age at inclusion.
Test cohort
Children with spinal muscular atrophy, identified by newborn screening and treated with DMT or diagnosed after birth due to affected sibling and treated with DMT or 4 copies of SMN2 and not treated. Patients between 4 months and 4 years at the baseline visit, inclusion of patients can be before 4 months of age.
结局指标
主要结局
To validate clinical outcome measures in patients with SMA from 4 months of age.
时间窗: BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.
Outcome measures are the Baba Infant Motor Score (BIMS) in the MAIJU to assess motor development. And Stride Velocity 95th Centile (SV95C) in the Syde to assess stride velocity distribution.
次要结局
- To identify and quantify motor developmental delay (Test Cohort).(BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.)
- To identify the earliest time-point of future motor impairment (Test cohort).(BIMS are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30. SV95C measured at baseline (month 0) and every 3 months at months 3, 6, 9, 12, 18, 24 and 30. Maximum of 30 months.)