Clinical trial NCT04833348: Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies
Official title: Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies, IMUSMA Project
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Spinal Muscular Atrophy
Keywords: Spinal muscular atrophy
Innovative therapies
Motor function
Wearable inertial sensors
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2021-04-06
Enrollment: 35
Sex: ALL
Maximum age (years): 2
Standard ages: CHILD
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

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.

Eligibility criteria: 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.)

Primary outcomes:
measure: Change in the 95th percentile of the norm of acceleration
timeFrame: Month 0 to month 24
Secondary outcomes:
measure: Change in the 95th percentile of the norm of angular velocity
timeFrame: Month 0 to month 24
measure: Change in the 95th percentile of the accelerations allong the vertical axis and the horizontal plane
timeFrame: Month 0 to month 24
measure: Change in the 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.
timeFrame: Month 0 to month 24
measure: Change in the acceleration's entropy
timeFrame: Month 0 to month 24
Other outcomes:
Locations:
city: Paris
country: France
facility: Hôpital Necker-Enfants Malades
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Isabelle DESGUERRE, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Centre Borelli - Université Paris Descartes
name: Brian TERVIL, PhD
role: STUDY_DIRECTOR
References: