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

Sponsor

Assistance Publique - Hôpitaux de Paris (Other)

Overall Status

Not yet recruiting

CT.gov ID

NCT04833348

Collaborator

(none)

Enrollment

Location

Arm

Anticipated Duration (Months)

0.8

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Spinal Muscular Atrophy	Other: Motor function measurement using inertial sensors	N/A

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.

Study Design

Study Type:

Interventional

Anticipated Enrollment :

40 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Other

Official Title:

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

Anticipated Study Start Date :

Aug 1, 2021

Anticipated Primary Completion Date :

Aug 1, 2025

Anticipated Study Completion Date :

Aug 1, 2025

Arms and Interventions

Arm	Intervention/Treatment
Experimental: Patients Infants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics)	Other: Motor 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

Arm

Intervention/Treatment

Experimental: Patients

Infants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics)

Other: Motor 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

Outcome Measures

Primary Outcome Measures

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 Outcome Measures

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.

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 2 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.)

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Hôpital Necker-Enfants Malades	Paris		France	75015

Sponsors and Collaborators

Assistance Publique - Hôpitaux de Paris

Investigators

Principal Investigator: Isabelle DESGUERRE, MD, PhD, Assistance Publique - Hôpitaux de Paris
Study Director: Brian TERVIL, PhD, Centre Borelli - Université Paris Descartes