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| ID | Type | Description | Link |
|---|---|---|---|
| 2020-A02279-30 | Other Identifier | ID-RCB Number |
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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients | Experimental | Infants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics) |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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:
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| 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 |
| 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 |
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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)
Benefiting from social security scheme
Informed consent signed by holders of parental authority and the investigator
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Isabelle DESGUERRE, MD, PhD | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Brian TERVIL, PhD | Centre Borelli - Université Paris Descartes | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Necker-Enfants Malades | Paris | 75015 | France |
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| ID | Term |
|---|---|
| D009134 | Muscular Atrophy, Spinal |
| ID | Term |
|---|---|
| D013118 | Spinal Cord Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D016472 | Motor Neuron Disease |
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|
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 |
| D019636 | Neurodegenerative Diseases |
| D009468 | Neuromuscular Diseases |