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

NCT ID: NCT04833348

Last Updated: 2025-09-15

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Clinical Phase: NA
• Total Enrollment: 35 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2021-03-20
• Study Completion Date: 2027-03-31

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.

Conditions

Spinal Muscular Atrophy

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

Patients

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

Group Type: EXPERIMENTAL

Motor function measurement using inertial sensors

Intervention Type: 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:

• 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

Interventions

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

Intervention Type: OTHER

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.)

• Maximum Eligible Age: 2 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

URC-CIC Paris Descartes Necker Cochin

OTHER

Sponsor Role: collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Isabelle DESGUERRE, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Brian TERVIL, PhD

Role: STUDY_DIRECTOR

Centre Borelli - Université Paris Descartes

Locations

Hôpital Necker-Enfants Malades

Paris, , France

Countries

France

Other Identifiers

2020-A02279-30

Identifier Type: OTHER

Identifier Source: secondary_id

APHP201640

Identifier Type: -

Identifier Source: org_study_id