Actively Recruiting
Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening
Led by Centre Hospitalier Universitaire de Liege · Updated on 2025-12-16
100
Participants Needed
1
Research Sites
139 weeks
Total Duration
On this page
Sponsors
C
Centre Hospitalier Universitaire de Liege
Lead Sponsor
S
SYSNAV
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetically confirmed spinal muscular atrophy with available SMN2 copy number
- Identified by newborn screening, family screening, or incidental diagnosis in presymptomatic stage for SMA
- Treated or follow-up possible for SMA patients with 4 SMN2 copies
- Genetically confirmed Duchenne muscular dystrophy
- Identified by newborn screening, family screening, or incidental diagnosis in presymptomatic stage for DMD
- Age less than 4 years at inclusion for DMD
- Legal guardian able to provide informed consent
You will not qualify if you...
- Any acute or chronic condition that significantly interferes with assessments or motor development
- Participation in a therapeutic trial
- Lack of internet connection
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle
Liège, Belgium, 4000
Actively Recruiting
Research Team
T
Tamara Dangouloff, PhD
CONTACT
M
Marie Machiels
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NON_RANDOMIZED
Model
PARALLEL
Primary Purpose
BASIC_SCIENCE
Number of Arms
2
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