An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK) (Active-NBS UK)

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.

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.

Study Overview

• Status: Recruiting
• Conditions: Spinal Muscular Atrophy (SMA)

• Study Type: Observational
• Enrollment (Estimated): 90

Contacts and Locations

• Study Contact: Name: Charlotte Lilien; Phone Number: 01865618799; Email: charlotte.lilien@paediatrics.ox.ac.uk
• Study Contact Backup: Name: Active-NBS Joint Mailbox; Email: active.nbs@paediatrics.ox.ac.uk

Study Locations

• United Kingdom
  • Oxford, United Kingdom, OX3 9DU
    • Recruiting
    • University of Oxford
    • Contact: Charlotte Lilien; Phone Number: 01865618799; Email: charlotte.lilien@paediatrics.ox.ac.uk
    • Contact: Joint inbox; Email: active.nbs@paediatrics.ox.ac.uk

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Participants residing in the UK

Description

Inclusion criteria (Test cohort):

1. Genetically confirmed SMA and number of SMN2 copies available
2. 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

or

(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

Exclusion Criteria (Test cohort):

1. Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution
2. Currently enrolled in an experimental treatment study

Inclusion criteria (Control):

1. Typically developing child
2. Participant between 6 months and 4 years at inclusion
3. Parent(s)/legal guardian(s) able to provide written informed consent prior to the participation in the study
4. 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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
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.
Control cohort; Typically developing children below 4 years of age between 6 months and 4 years of age at inclusion.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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.

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
To identify and quantify motor developmental delay (Test Cohort).	Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.	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).	Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.	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.

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
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.	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 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.	Functional scale scores from standard of care collected retrospectively: 1 visit before baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.
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.	Functional scale scores from standard of care collected retrospectively: 1 visit before baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.
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.	Functional scale scores from standard of care collected retrospectively: 1 visit before baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.
To describe motor function in terms of known clinical outcomes (Test Cohort).	Change in Motor Function Measure-32 (MFM32) total score. Total scores are expressed as a percentage and range from 0 to 100, with higher scores indicating better motor function.	Functional scale scores from standard of care collected retrospectively: 1 visit before baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.
To identify and quantify motor developmental delay (Test Cohort)	Change in normalised Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) subscores with age. Differences in scores with respect to genotype and phenotype.	Bayley-4 social and emotional adaptive behaviour assessment administered at baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.
To identify a predictive model for developmental delay (Test Cohort)	Factors that predict the likelihood of the BIMS and SV95C being below thresholds at 24 months after baseline .	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 describe motor developmental delays in terms of known clinical outcomes (Test Cohort).	Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) composite score. The Bayley-4 assesses developmental functioning across cognitive, language, and motor domains. Composite scores range from 40 to 160, with higher scores indicating better developmental function. Assessments available will depend on phenotype of the patient.	Composite scores from standard of care collected retrospectively: 1 visit before baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.
To identify potential other markers of disease trajectory from the MAIJU variables (Test Cohort)	Change in exploratory MAIJU outcomes with age. Differences in these outcomes with respect to genotype and phenotype.	BIMS2 and other outcome (time spent in each position) are collected at baseline (month 0) and monthly thereafter at months 1, 2, 3, 4, 5, 6, 9, 12, 18, 24, and 30.
To understand the impact of early treatment on health economic on Quality of Life (Test Cohort)	Assess factors that correlate with the Paediatric Quality of Life Inventory (Peds QL) questionnaire. The PedsQL is a validated questionnaire measuring health-related quality of life in children across physical, emotional, social, and school functioning domains. Scores range from 0 to 100, with higher scores indicating better quality of life.	The Peds QL will be administered at baseline (month 0) and prospectively every 6 months (month 6, 12, 18, 24 and 30). A maximum of 30 months.

Collaborators and Investigators

• Sponsor: University of Oxford

Study record dates

Study Major Dates

• Study Start (Actual): May 1, 2026
• Primary Completion (Estimated): July 1, 2029
• Study Completion (Estimated): July 1, 2029

Study Registration Dates

• First Submitted: August 20, 2025
• First Submitted That Met QC Criteria: April 17, 2026
• First Posted (Actual): April 21, 2026

Study Record Updates

• Last Update Posted (Actual): May 11, 2026
• Last Update Submitted That Met QC Criteria: May 6, 2026
• Last Verified: August 1, 2025

More Information

Terms related to this study

• Keywords: Development; Spinal muscular atrophy; Newborn screening; Motricity
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal
• Other Study ID Numbers: Active-NBS

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No