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

Not Applicable

Active, not recruiting

• Conditions: Spinal Muscular Atrophy
• Interventions: Other: Motor function measurement using inertial sensors

• Registration Number: NCT04833348
• Lead Sponsor: Assistance Publique - Hôpitaux de Paris

Brief Summary

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.

Detailed Description

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.

Study Timeline

• Study Start: 2021-03-20
• Study First Submitted: 2021-03-23
• Study First Submitted QC: 2021-04-02
• Study First Posted: 2021-04-06
• Primary Completion: 2025-03-17
• Status Verified: 2025-04
• Last Update Submitted: 2025-04-04
• Last Update Posted: 2025-04-07
• Study Completion: 2027-03

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 35

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.)

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Patients	Motor function measurement using inertial sensors	Infants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics)

Primary Outcome Measures

Name	Time	Method
Change in the 95th percentile of the norm of acceleration	Month 0 to month 24	95th percentile of the norm of the acceleration of the feet and the arms.

Secondary Outcome Measures

Name	Time	Method
Change in the 95th percentile of the norm of angular velocity	Month 0 to month 24	95th percentile of the norm of angular velocity of the feet and the arms.
Change in the 95th percentile of the accelerations allong the vertical axis and the horizontal plane	Month 0 to month 24	95th percentile of the accelerations of the feet and the arms the vertical axis and the horizontal plane.
Change in the acceleration's entropy	Month 0 to month 24	Acceleration's entropy computed in the different axis of the feet and the arms.
Change in the 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.	Month 0 to month 24	95th percentile of the angular velocities of the feet and the arms the vertical axis and the horizontal plane.

Trial Locations

Locations (1)

Hôpital Necker-Enfants Malades; 🇫🇷 Paris, France