RecruitingNCT07543003

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)

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.


Sponsor

University of Oxford

Enrollment

90 participants

Start Date

May 1, 2026

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Max Age: 4 Years

Inclusion Criteria15

  • 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
  • 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 Criteria3

  • 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
  • (1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and/or the motor evolution

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Locations(1)

University of Oxford

Oxford, United Kingdom

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NCT07543003


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