Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening

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.

Conditions

• Spinal Muscular Atrophy (SMA)
• Duchenne Muscular Dystrophy (DMD)

Interventions

DEVICE

MAIJU

A 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

DEVICE

Syde

The 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.

OTHER

Questionnaires

Parents will complete a specific questionnaire covering their child's medical history;

OTHER

PedsQL Questionnaire

Quality-of-life questionnaire

Sponsors & Collaborators

• SYSNAV

  collaborator INDUSTRY

• Centre Hospitalier Régional de la Citadelle

  collaborator OTHER

• Leon Fredericq Foundation

  collaborator UNKNOWN

• Centre Hospitalier Universitaire de Liege

  lead OTHER

Principal Investigators

• Tamara Dangouloff, PhD · University of Liege

• Laurent Servais, MD, PhD · University of Liege

Study Design

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

4 Months

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2025-12-01

Primary Completion

2028-08-31

Completion

2028-08-31

Countries

• Belgium

Study Locations