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)

NCT07543003 | Not Yet Recruiting

• 1 other identifier: Active-NBS
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Spinal Muscular Atrophy (SMA)

Keywords

Spinal muscular atrophy; Newborn screening; Motricity; Development

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• 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.

Other Outcomes (10)

• To model the SV95C and BIMS trajectory over time (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 describe motor function in terms of known clinical outcomes (Test Cohort).

  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).

  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.

Study Arms (2)

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.

Eligibility Criteria

• Age: Up to 4 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Participants residing in the UK

You may qualify if:

• 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
• (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

You may not qualify if:

• 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
• Parent(s)/legal guardian(s) able to provide written informed consent prior to the participation in the study
• Male or female
• (1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution

Sponsors & Collaborators

• University of Oxford: lead

Study Sites (1)

University of Oxford

Oxford, OX3 9DU, United Kingdom

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Central Study Contacts

Charlotte Lilien

CONTACT

01865618799; charlotte.lilien@paediatrics.ox.ac.uk

Active-NBS Joint Mailbox

CONTACT

active.nbs@paediatrics.ox.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 20, 2025
• First Posted: April 21, 2026
• Study Start: May 1, 2026
• Primary Completion (Estimated): July 1, 2029
• Study Completion (Estimated): July 1, 2029
• Last Updated: April 21, 2026

Record last verified: 2025-08

Locations

GB (1)