Wearable monitoring of motor development in babies and young children with spinal muscular atrophy detected at birth

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.

This project will try wearing small motion sensors at home to see if they can track how babies and young children diagnosed with spinal muscular atrophy at birth move and develop, compared with healthy children.

Quick facts

• Study type: Observational
• Enrollment: 90 (estimated)
• Ages: N/A to 4 Years
• Sex: All
• Sponsor: University of Oxford (Academic / other)
• Locations: 1 site (Oxford)
• Trial ID: NCT07543003 on ClinicalTrials.gov

What this trial studies

This observational, longitudinal effort will follow up to 60 children identified with SMA (and healthy controls) for as long as 30 months using home-worn wearable devices (Syde and Motor Assessment) to capture motor activity. Participants will include infants and children from before 4 months up to under 4 years of age, with known SMN2 copy number and variable exposure to disease-modifying therapies. Data will be collected remotely through a federated model and analyzed to validate motor outcome measures suitable for this young age group. The goal is to determine when movement patterns diverge from typical development to inform timing of additional treatments under development.

Who should consider this trial

Good fit: Ideal candidates are infants and young children (from before 4 months up to under 4 years) with genetically confirmed SMA and known SMN2 copy number, identified by newborn screening or family diagnosis, whose parents can provide consent and who are not enrolled in another experimental treatment study.

Not a fit: Children older than 4 years, those with acute or chronic conditions that significantly interfere with motor assessments, or those currently in experimental treatment trials are unlikely to benefit from participation.

Why it matters

Potential benefit: If successful, the work could provide reliable home-based measures of early motor change that help clinicians decide when to give extra therapies to support muscle development.

How similar studies have performed: Wearable monitoring approaches have shown promise in older children and adults with neuromuscular disease, but remote longitudinal monitoring specifically in newborn-detected SMA is relatively novel and only partially validated.

Eligibility criteria

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

Where this trial is running

Oxford

• University of Oxford — Oxford, United Kingdom (Recruiting)

Study contacts

• Study coordinator: Charlotte Lilien

Conditions Spinal Muscular Atrophy; Spinal muscular atrophy; Newborn screening; Motricity; Development