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

Assistance Publique - Hôpitaux de Paris

Status: Active, not recruiting

Conditions: Spinal Muscular Atrophy

Treatments: Other: Motor function measurement using inertial sensors

Study type: Interventional

Funder types: Other

Identifiers

NCT04833348

2020-A02279-30 (Other Identifier)

APHP201640

Details and patient eligibility

About

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.

Full 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.

Enrollment: 35 patients

Sex: All

Ages: Under 2 years old

Volunteers: No 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.)

Trial design

Primary purpose: Other

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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35 participants in 1 patient group

Patients

Experimental group

Description:

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

Treatment:

Other: Motor function measurement using inertial sensors