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

NCT07286565 | Recruiting

• 1 other identifier: Active-NBS Liege
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 1

Brief 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)

Keywords

Remotely monitor; Syde; Accelerometry; Daily living

Outcome Measures

Primary Outcomes (9)

• Digital Mobility Monitoring Compliance

  Measure of participant adherence to wearing the Syde® device: total recording time.

  4 weeks of recording periods every 3 months over 2 years

• Digital Mobility Monitoring Compliance

  Measure of participant adherence to wearing the Syde® device: number of valid recording days (≥4 hours)

  4 weeks of recording periods every 3 months over 2 years

• Digital Mobility Monitoring Compliance

  Measure of participant adherence to wearing the Syde® device: time to reach 50 and 180 hours of recording.

  4 weeks of recording periods every 3 months over 2 years

• Digital Mobility Monitoring Compliance

  Measure of participant adherence to wearing the MAIJU® device using total recording time.

  1 day of recording periods every month over 2 years

• Walking Pattern Characteristics

  Analysis of walking sequences: maximal walking sequence duration

  4 weeks of recording periods every 3 months over 2 years

• Walking Pattern Characteristics

  Analysis of walking sequences: maximal distance walked in a single sequence.

  4 weeks of recording periods every 3 months over 2 years

• Walking Pattern Characteristics

  Analysis of walking sequences: maximal 30-minute walking distance.

  4 weeks of recording periods every 3 months over 2 years

• Reliability

  Inter Class Correlation (ICC2K) when comparing the first and the second half of recordings that includes more than 100 hours AND more than 2000 steps

  Baseline, 1 year, 2 years.

• Group Differences in Digital Variables

  Comparison of digital mobility metrics across subgroups defined by the number of SMN2 copies (SMA patients) and age's symptom appearance with 1. Patients with SMA symptoms at treatment initiation 2. Patients with 2 copies of SMN2 and no symptoms at treatment initiation 3. Patients with 3 copies of SMN2 and no symptoms at treatment initiation 4. Patients with 4 copies of SMN2 5. Healthy controls

  Age 2, 3 and 4 years

Study Arms (2)

Patient with spinal muscular atrophy

EXPERIMENTAL

Patients will wear a device (Maiju and/or Syde) and complete questionnaires.

Device: MAIJU; Device: Syde; Other: Questionnaires; Other: PedsQL Questionnaire

Patient with Duchenne muscular disease

EXPERIMENTAL

Patients will wear a device (Maiju and/or Syde) and complete questionnaires.

Device: MAIJU; Device: Syde; Other: Questionnaires; Other: PedsQL Questionnaire

Interventions

MAIJU DEVICE

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

Patient with Duchenne muscular disease; Patient with spinal muscular atrophy

Syde DEVICE

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.

Patient with Duchenne muscular disease; Patient with spinal muscular atrophy

Questionnaires OTHER

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

Patient with Duchenne muscular disease; Patient with spinal muscular atrophy

PedsQL Questionnaire OTHER

Quality-of-life questionnaire

Patient with Duchenne muscular disease; Patient with spinal muscular atrophy

Eligibility Criteria

• Age: 4 Months+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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
• Legal guardian able to provide informed consent

You may not qualify if:

• 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.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Liege: lead
• SYSNAV: collaborator
• Centre Hospitalier Régional de la Citadelle: collaborator
• Leon Fredericq Foundation: collaborator

Study Sites (1)

Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle

Liège, 4000, Belgium

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Muscular Dystrophy, Duchenne

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Tamara Dangouloff, PhD

  University of Liege

  PRINCIPAL INVESTIGATOR

• Laurent Servais, MD, PhD

  University of Liege

  STUDY DIRECTOR

Central Study Contacts

Tamara Dangouloff, PhD

CONTACT

+33662438138; tamara.dangouloff@uliege.be

Marie Machiels

CONTACT

marie.machiels@student.uliege.be

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Dr

Study Record Dates

• First Submitted: September 5, 2025
• First Posted: December 16, 2025
• Study Start: December 1, 2025
• Primary Completion (Estimated): August 1, 2028
• Study Completion (Estimated): August 1, 2028
• Last Updated: December 16, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

BE (1)