The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) identified through newborn screening, family testing, or incidental diagnosis. The study will enroll 100 children and follow them longitudinally for up to 30 months. Participants are remotely recruited, and all procedures, including consent, questionnaires, and follow-up visits, are conducted by phone or video conferencing without any hospital visits. Children will use age-appropriate wearable devices at home: MAIJU®, a sensorized garment for non-ambulant infants, and Syde®, an ankle-worn sensor for ambulant children. Data collection includes digital motor endpoints, clinical information, and quality of life (PedsQL). Primary objectives are to validate digital biomarkers of motor development, while secondary objectives include early identification of motor deficits, modeling motor trajectories, and quantifying genotype-related differences. Exploratory analyses will assess gait parameters such as stride velocity 95th centile (SV95C) and compare motor outcomes across genetic profiles and treatment exposure. Risks are minimal, limited to the use of non-invasive sensors with no known side effects.
Identified by newborn screening,
Identified by family screening, or incidental diagnosis in pre-symptomatic stage
Treated (or follow-up possible for patients with 4 SMN2 copies)
Identified by newborn screening,
Any acute or chronic condition that, in the investigator's opinion, significantly interferes with assessments and/or motor development.
Participation in a therapeutic trial.
Lack of internet connection.
Parallel
MAIJU
DeviceA jumpsuit equipped with motion sensors for detailed assessment of motor development and postural changes. Developed by the University of Helsinki, it enables remote evaluation of infants and their motor behavior. The device has been extensively validated in healthy infants and those with cerebral palsy
Syde
DeviceThe Syde® is a Class I medical device, CE-marked (compliant with European Regulation 2017/745) and manufactured by Sysnav (Vernon, France). The Syde® measures various gait parameters to assess motor abilities. It enabled the identification of SV95C in Duchenne muscular dystrophy (DMD), which became the first qualified primary endpoint in DMD, and the first digital outcome qualified by a regulatory agency. Data have been collected in about thirty DMD children under 4 years old and in an age-matched control population. These data demonstrated feasibility, reliability, and sensitivity to change in children from controls as soon as walking is acquired.
Questionnaires
Other interventionParents will complete a specific questionnaire covering their child's medical history;
PedsQL Questionnaire
Other interventionQuality-of-life questionnaire
Digital Mobility Monitoring Compliance
Measure of participant adherence to wearing the Syde® device: total recording time.
Digital Mobility Monitoring Compliance
Measure of participant adherence to wearing the Syde® device: number of valid recording days (≥4 hours)
Digital Mobility Monitoring Compliance
Measure of participant adherence to wearing the Syde® device: time to reach 50 and 180 hours of recording.
Digital Mobility Monitoring Compliance
Measure of participant adherence to wearing the MAIJU® device using total recording time.
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Centre Hospitalier Universitaire de Liege
Lead sponsor
SYSNAV
Collaborator
Centre Hospitalier Régional de la Citadelle
Collaborator
Leon Fredericq Foundation
Collaborator
