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

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

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 Overview

• Status: Active, not recruiting
• Conditions: Spinal Muscular Atrophy
• Intervention / Treatment: Other: Motor function measurement 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 Type: Interventional
• Enrollment (Actual): 35
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Paris, France, 75015
    • Hôpital Necker-Enfants Malades

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 2 years (Child)
• Accepts Healthy Volunteers: No

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm

Intervention / Treatment

Experimental: Patients; Infants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics)

Other: Motor function measurement using inertial sensors; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Change in the 95th percentile of the norm of acceleration	95th percentile of the norm of the acceleration of the feet and the arms.	Month 0 to month 24

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Assistance Publique - Hôpitaux de Paris
• Collaborators: URC Necker Cochin, France
• Investigators: Principal Investigator: Isabelle DESGUERRE, MD, PhD, Assistance Publique - Hôpitaux de Paris; Study Director: Brian TERVIL, PhD, Centre Borelli - Université Paris Descartes

Study record dates

Study Major Dates

• Study Start (Actual): March 20, 2021
• Primary Completion (Actual): March 17, 2025
• Study Completion (Estimated): March 1, 2027

Study Registration Dates

• First Submitted: March 23, 2021
• First Submitted That Met QC Criteria: April 2, 2021
• First Posted (Actual): April 6, 2021

Study Record Updates

• Last Update Posted (Estimated): September 15, 2025
• Last Update Submitted That Met QC Criteria: September 8, 2025
• Last Verified: September 1, 2025

More Information

Terms related to this study

• Keywords: Motor function; Spinal muscular atrophy; Innovative therapies; Wearable inertial sensors
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; Motor Neuron Disease; Muscular Atrophy, Spinal
• Other Study ID Numbers: APHP201640; 2020-A02279-30 (Other Identifier: ID-RCB Number)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No