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

study id #: NCT04833348

condition: Spinal Muscular Atrophy

status: Not yet recruiting

purpose:

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.

intervention: Motor function measurement using inertial sensors

results: https://clinicaltrials.gov/ct2/show/results/NCT04833348

last updated: February 04, 2022

start date: August 2021

estimated completion: August 2025

last updated: June 29, 2021

phase of development: Not Applicable

size / enrollment: 40

study 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.

primary outcomes:

• 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 outcomes:

• Change in the 95th percentile of the norm of angular velocity
  Month 0 to month 24
• Change in the 95th percentile of the accelerations allong 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.
  Month 0 to month 24
• Change in the acceleration's entropy
  Month 0 to month 24

inclusion 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: 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.)

sponsor: Assistance Publique - Hôpitaux de Paris

contacts: Isabelle DESGUERRE, MD, PhD, 1 44 49 48 56, isabelle.desguerre@aphp.fr

investigators: Isabelle DESGUERRE, MD, PhD,Assistance Publique - Hôpitaux De Paris

trial center locations: France

• Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies
  Isabelle DESGUERRE, MD, PhD, 1 44 49 48 56, isabelle.desguerre@aphp.fr