Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies, IMUSMA Project
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Enrollment
- 35
- Locations
- 1
- Primary Endpoint
- Change in the 95th percentile of the norm of acceleration
Study Overview
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Other
- Masking
- None
Eligibility Criteria
- Ages
- — to 2 Years (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
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.)
Arms & Interventions
Patients
Infants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics)
Intervention: Motor function measurement using inertial sensors (Other)
Outcomes
Primary Outcomes
Change in the 95th percentile of the norm of acceleration
Time Frame: Month 0 to month 24
95th percentile of the norm of the acceleration of the feet and the arms.
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 acceleration's entropy(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)