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

ID de estudio #: NCT04833348

condición: Atrofia muscular en la columna

Estado: Aún no está reclutando

propósito:

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.

intervención: Motor function measurement using inertial sensors

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

última actualización: Febrero

fecha de inicio: Agosto 2021

finalización estimada: Agosto 2025

última actualización: 29 de junio de 2021

fase de desarrollo: No aplicable

tamaño / inscripción: 40

descripción del estudio: 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.

resultados primarios:

• 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
  

resultados secundarios:

• 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

criterios de inclusión:

Criterios de inclusión:

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

Criterio de exclusión: Criterios:

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.)

patrocinador: Asistencia pública - Hôpitaux de Paris

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

investigadores Isabelle DESGUERRE, MD, PhD,Assistance Publique - Hôpitaux De Paris

ubicaciones del centro de prueba: Francia

• 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