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

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Spinal Muscular Atrophy

Intervention / Treatment
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* Other: Motor function measurement using inertial sensors


Participation Criteria
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Eligibility Criteria
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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.)

Ages Eligible for Study
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Maximum Age: 2 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Patients<br>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<br>* 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<br>|

What is the study measuring?
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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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Spinal muscular atrophy, Innovative therapies, Motor function, Wearable inertial sensors