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NCT Number: NCT04833348

Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies

The aim of the study is to propose a method for quantifying motor function in infants with spinal muscular atrophy treated with innovative therapies using inertial sensors.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Spinal Muscular Atrophy Central Nervous System Diseases Motor Neuron Disease Muscular Atrophy, Spinal Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Spinal Cord Diseases

Age range

Up to 2 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hôpital Necker-Enfants Malades

Paris, 75015, France

About this study

Infantile spinal muscular atrophy is a common disease (the second most common fatal autosomal recessive disease after cystic fibrosis), neurodegenerative disorders of childhood causing severe motor impairment and a risk to life through respiratory failure in the most severe forms.

Innovative therapies (gene therapy or pharmacogenetics) have recently proven their effectiveness on survival criteria. Nevertheless, the motor benefit of these therapies must be evaluated more precisely.

Currently, the reference methods for motor development assessment are fairly robust semi-quantitative motor scales that lack sensitivity and do not reflect function (CHOPINTEND, HINE, BAYLEY SCALE, MFM and CGI-scale).

Advances in recent techniques have enabled the emergence of non-invasive, secure, easy-to-use inertial sensors in routine clinical practice that allow quantification of infant movements.

The aim of the study is to propose a method for quantifying motor function in infants with spinal muscular atrophy treated with innovative therapies using inertial sensors.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Infants of both sexes
  • Suffering from spinal muscular atrophy (diagnosis by genetic study "homozygous deletion of SMN1")
  • Followed up by the Necker Neuromuscular Reference Center (GNMH)
  • Eligible for innovative therapy (gene therapy or pharmacogenetics)
  • age of onset of the disease <1 year
  • no severe respiratory impairment (dependence on ventilatory support for more than 16 hours per day) or bulbar involvement
  • decision of treatment by a Multidisciplinary Consultation Meeting national of experts
  • Benefiting from social security scheme
  • Informed consent signed by holders of parental authority and the investigator

Exclusion criteria

  • Non-consent of one of the holders of parental authority
  • Respiratory instability (dependence on ventilatory support for more than 16 hours per day) or hemodynamics
  • Contraindication to innovative therapy
  • History of another disease impacting motor skills (neonatal suffering, etc.)

Treatment and study plan

Motor function measurement using inertial sensors

Other

Measurement of motor skills at M0: start of the administration of the innovative therapy and then 1 month, 3 months, 6 months, 1 year and then 2 years later:

  • Free motor skills in the supine position
  • Motricity in the supine position stimulated by a play frame
  • Measurement of the proximal and distal activity of the upper limbs in motor skills stimulated by the play gantry
  • Measurement of activity in a supported sitting position Longitudinal study, the subject is his own control

Primary outcomes

  1. Change in the 95th percentile of the norm of acceleration

    Time frame: Month 0 to month 24

    95th percentile of the norm of the acceleration of the feet and the arms.

Secondary outcomes

  1. Change in the 95th percentile of the norm of angular velocity

    Time frame: Month 0 to month 24

    95th percentile of the norm of angular velocity of the feet and the arms.

  2. Change in the 95th percentile of the accelerations allong the vertical axis and the horizontal plane

    Time frame: Month 0 to month 24

    95th percentile of the accelerations of the feet and the arms the vertical axis and the horizontal plane.

  3. Change in the 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.

    Time frame: Month 0 to month 24

    95th percentile of the angular velocities of the feet and the arms the vertical axis and the horizontal plane.

  4. Change in the acceleration's entropy

    Time frame: Month 0 to month 24

    Acceleration's entropy computed in the different axis of the feet and the arms.

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • URC-CIC Paris Descartes Necker Cochin

Registry information

Official study title

Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies, IMUSMA Project

Acronym: IMUSMA

Important dates

Study start
2021
Primary completion
2025
Study completion
2027
First posted
Apr 6, 2021
Registry last updated
Sep 15, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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