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

January 31, 2024 updated by: Assistance Publique - Hôpitaux de Paris

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

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 Overview

Status

Recruiting

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 Type

Interventional

Enrollment (Estimated)

60

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

      • Paris, France, 75015
        • Recruiting
        • Hôpital Necker-Enfants Malades
        • Contact:
        • Sub-Investigator:
          • Rémi BARROIS, PhD
        • Sub-Investigator:
          • Christine BARNERIAS, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 2 years (Child)

Accepts Healthy Volunteers

No

Description

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.)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Other
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / 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)

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Month 0 to month 24

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Change in the 95th percentile of the norm of angular velocity
Time Frame: Month 0 to month 24
95th percentile of the norm of angular velocity of the feet and the arms.
Month 0 to month 24
Change in the 95th percentile of the accelerations allong the vertical axis and the horizontal plane
Time Frame: Month 0 to month 24
95th percentile of the accelerations of the feet and the arms 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.
Time Frame: Month 0 to month 24
95th percentile of the angular velocities of the feet and the arms the vertical axis and the horizontal plane.
Month 0 to month 24
Change in the acceleration's entropy
Time Frame: Month 0 to month 24
Acceleration's entropy computed in the different axis of the feet and the arms.
Month 0 to month 24

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

March 20, 2021

Primary Completion (Estimated)

March 1, 2025

Study Completion (Estimated)

March 1, 2027

Study Registration Dates

First Submitted

March 23, 2021

First Submitted That Met QC Criteria

April 2, 2021

First Posted (Actual)

April 6, 2021

Study Record Updates

Last Update Posted (Estimated)

February 1, 2024

Last Update Submitted That Met QC Criteria

January 31, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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