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

NCT04833348 | Active Not Recruiting

• 2 other identifiers: APHP2016402020-A02279-30
• Study Type: interventional
• Target: 35
• Locations: 1 country
• Sites: 1

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.

Conditions

Spinal Muscular Atrophy

Keywords

Spinal muscular atrophy; Innovative therapies; Motor function; Wearable inertial sensors

Outcome Measures

Primary Outcomes (1)

• Change in the 95th percentile of the norm of acceleration

  95th percentile of the norm of the acceleration of the feet and the arms.

  Month 0 to month 24

Secondary Outcomes (4)

• 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 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.

  Month 0 to month 24

• Change in the acceleration's entropy

  Month 0 to month 24

Study Arms (1)

Patients

EXPERIMENTAL

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

Interventions

Motor function measurement using inertial sensors 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

Patients

Eligibility Criteria

• Age: Up to 2 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• 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

You may not qualify if:

• 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.)

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Hôpital Necker-Enfants Malades

Paris, 75015, France

Location

MeSH Terms

Conditions

Muscular Atrophy, Spinal

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases

Study Officials

• Isabelle DESGUERRE, MD, PhD

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

• Brian TERVIL, PhD

  Centre Borelli - Université Paris Descartes

  STUDY DIRECTOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 23, 2021
• First Posted: April 6, 2021
• Study Start: March 20, 2021
• Primary Completion: March 17, 2025
• Study Completion (Estimated): March 1, 2027
• Last Updated: September 15, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)