Spinal Muscular Atrophy
Conditions
Keywords
Spinal muscular atrophy, Innovative therapies, Motor function, Wearable inertial sensors
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.
Interventions
OTHERMotor 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
Sponsors
URC-CIC Paris Descartes Necker Cochin
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
No minimum to 2 Years
Healthy volunteers
No
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.)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 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. |
| 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. |
Countries
France
Outcome results
None listed