Active-NBS Liege - Monitoring the Motor Development of Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified Through Newborn Screening

Status: Recruiting
Location: See location...
Intervention Type: Device, Other
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 4 months
Healthy Volunteers: f
View:

⁃ Genetically confirmed SMA and avalaible MSNA2 copy number:

• 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)

⁃ Genetically confirmed DMD:

• Identified by newborn screening,

• Identified by family screening, or incidental diagnosis in pre-symptomatic stage

• Age \< 4 years at inclusion

⁃ Legal guardian able to provide informed consent

Locations
Other Locations
Belgium
Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle
RECRUITING
Liège
Contact Information
Primary
Tamara Dangouloff, PhD
tamara.dangouloff@uliege.be
+33662438138
Backup
Marie Machiels
marie.machiels@student.uliege.be
Time Frame
Start Date: 2025-12-01
Estimated Completion Date: 2028-08
Participants
Target number of participants: 100
Treatments
Experimental: Patient with spinal muscular atrophy
Patients will wear a device (Maiju and/or Syde) and complete questionnaires.
Experimental: Patient with Duchenne muscular disease
Patients will wear a device (Maiju and/or Syde) and complete questionnaires.
Sponsors
Leads: Centre Hospitalier Universitaire de Liege
Collaborators: Leon Fredericq Foundation, SYSNAV, Centre Hospitalier Régional de la Citadelle

This content was sourced from clinicaltrials.gov