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.
Genetically confirmed SMA and number of SMN2 copies available
a. Patients identified by NBS and treated with disease modifying therapy (DMT)
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
Typically developing child
Participant between 6 months and 4 years at inclusion
Participants residing in the UK
Cohort
Prospective
Not listed
To validate clinical outcome measures in patients with SMA from 4 months of age.
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.
To identify and quantify motor developmental delay (Test Cohort).
Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.
To identify the earliest time-point of future motor impairment (Test cohort).
Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.
To model the SV95C and BIMS trajectory over time (Test Cohort)
Change in BIMS and SV95C outcomes with age. Differences in these outcomes with respect to genotype and phenotype.
To describe motor function in terms of known clinical outcomes (Test Cohort).
Change in Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) total score. Total scores range from 0 to 64, with higher scores indicating better motor function.
To describe motor function in terms of known clinical outcomes (Test Cohort).
Change in Hammersmith Functional Motor Scale Expanded (HFMSE) total score. Total scores range from 0 to 66, with higher scores indicating better motor function.
To describe motor function in terms of known clinical outcomes (Test Cohort).
Change in Revised Hammersmith Scale (RHS) total score. Total scores range from 0 to 69, with higher scores indicating better motor function.
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