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NCT Number: NCT07543003

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 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.

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Key information

Conditions

Spinal Muscular Atrophy (SMA) Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

Up to 4 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

(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

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):

  • 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

Treatment and study plan

Primary outcomes

  1. To validate clinical outcome measures in patients with SMA from 4 months of age.

    Time frame: 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.

Secondary outcomes

  1. To identify and quantify motor developmental delay (Test Cohort).

    Time frame: 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.

    Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.

  2. To identify the earliest time-point of future motor impairment (Test cohort).

    Time frame: 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.

    Assessment of BIMS from MAIJU until the acquisition of ambulation, then SV95C from Syde.

Other outcomes

  1. To model the SV95C and BIMS trajectory over time (Test Cohort)

    Time frame: 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.

    Change in BIMS and SV95C outcomes with age. Differences in these outcomes with respect to genotype and phenotype.

  2. To describe motor function in terms of known clinical outcomes (Test Cohort).

    Time frame: 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.

    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.

  3. To describe motor function in terms of known clinical outcomes (Test Cohort).

    Time frame: 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.

    Change in Hammersmith Functional Motor Scale Expanded (HFMSE) total score. Total scores range from 0 to 66, with higher scores indicating better motor function.

  4. To describe motor function in terms of known clinical outcomes (Test Cohort).

    Time frame: 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.

    Change in Revised Hammersmith Scale (RHS) total score. Total scores range from 0 to 69, with higher scores indicating better motor function.

  5. To describe motor function in terms of known clinical outcomes (Test Cohort).

    Time frame: 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.

    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.

  6. To identify and quantify motor developmental delay (Test Cohort)

    Time frame: 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.

    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.

  7. To identify a predictive model for developmental delay (Test Cohort)

    Time frame: 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.

    Factors that predict the likelihood of the BIMS and SV95C being below thresholds at 24 months after baseline .

  8. To describe motor developmental delays in terms of known clinical outcomes (Test Cohort).

    Time frame: 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.

    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.

  9. To identify potential other markers of disease trajectory from the MAIJU variables (Test Cohort)

    Time frame: 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.

    Change in exploratory MAIJU outcomes with age. Differences in these outcomes with respect to genotype and phenotype.

  10. To understand the impact of early treatment on health economic on Quality of Life (Test Cohort)

    Time frame: 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.

    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.

Study contacts

Contact information is provided by the study sponsor or research team.

Active-NBS Joint Mailbox

CONTACT

[email protected]

Charlotte Lilien

CONTACT

[email protected]

01865618799

Sponsors and collaborators

Lead sponsor

University of Oxford

Other

Registry information

Official study title

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.

Acronym: Active-NBS UK

Important dates

Study start
2026
Primary completion
2029
Study completion
2029
First posted
Apr 21, 2026
Registry last updated
May 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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