Spinal Muscular AtrophyIMUSMANCT04833348
Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies
A study testing Motor function measurement using inertial sensors in people with Spinal Muscular Atrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 2 years
- Conditions the study is for
- Spinal Muscular Atrophy
- What is being tested?
- Motor function measurement using inertial sensors
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 35 participants
- Where
- 1 siteFrance
- Study dates
- 20 Mar 2021to Mar 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 2 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
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- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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
- Being tested
- Motor function measurement using inertial sensors
- Keywords
- Spinal muscular atrophy, Innovative therapies, Motor function, Wearable inertial sensors
- Medical subject headings
- Muscular Atrophy, Spinal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Motor function measurement using inertial sensorsOther
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
| Study group | Role | What they receive |
|---|---|---|
| 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) Receives: Other: Motor function measurement using inertial sensors |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in the 95th percentile of the norm of acceleration
95th percentile of the norm of the acceleration of the feet and the arms.
Measured: Month 0 to month 24
Secondary outcomes (4)
Change in the 95th percentile of the norm of angular velocity
95th percentile of the norm of angular velocity of the feet and the arms.
Measured: Month 0 to month 24
Change in the 95th percentile of the accelerations allong the vertical axis and the horizontal plane
95th percentile of the accelerations of the feet and the arms the vertical axis and the horizontal plane.
Measured: Month 0 to month 24
Change in the 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.
95th percentile of the angular velocities of the feet and the arms the vertical axis and the horizontal plane.
Measured: Month 0 to month 24
Change in the acceleration's entropy
Acceleration's entropy computed in the different axis of the feet and the arms.
Measured: Month 0 to month 24
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Apr 2021
- Study start20 Mar 2021
- Primary completion17 Mar 2025
- Study completionMar 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular AtrophyStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 35 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Responsible party
- Sponsor
- Investigators
- Isabelle DESGUERRE, MD, PhD, Principal investigator, Assistance Publique - Hôpitaux de ParisBrian TERVIL, PhD, Study director, Centre Borelli - Université Paris Descartes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04833348
- Sponsor's protocol ID
- APHP201640
- Other IDs
- 2020-A02279-30
- Acronym
- IMUSMA
- Status last verified
- Sep 2025
- First submitted
- 23 Mar 2021
- Last updated
- 15 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 15 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Quantification of Motor Function in Infants With Spinal Muscular Atrophy Treated With Innovative Therapies, IMUSMA Project
- ClinicalTrials.gov ID
- NCT04833348
- Acronym / sponsor ID
- IMUSMA / APHP201640
- Conditions
- Spinal Muscular Atrophy
- Keywords
- Spinal muscular atrophy, Innovative therapies, Motor function, Wearable inertial sensors
- Study type
- Interventional
- Recruitment status
- Active, not recruiting
- Enrolment
- 35 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- URC-CIC Paris Descartes Necker Cochin
- Study start
- 20 Mar 2021 (actual)
- Primary completion
- 17 Mar 2025 (actual)
- Study completion
- Mar 2027 (estimated)
- First posted
- 6 Apr 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients | Experimental | Other: Motor function measurement using inertial sensorsInfants with spinal muscular atrophy cared by the Neuromuscular Reference Center at Necker Hospital and eligible for innovative therapy (gene therapy or pharmacogenetics) |
Who may qualify
- Ages
- Up to 2 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (9 listed)
- 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)
- Benefiting from social security scheme
Key exclusion criteria (4 listed)
- 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.)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Motor function measurement using inertial sensorsMeasurement 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 | Other | Patients |
Primary outcome
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.
4 secondary outcomes
Change in the 95th percentile of the norm of angular velocity
Time frame: 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
Change in the 95th percentile of the angular velocities allong the vertical axis and the horizontal plane.
Time frame: Month 0 to month 24
Change in the acceleration's entropy
Time frame: Month 0 to month 24
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 15 Sep 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Isabelle DESGUERRE, MD, PhD principal investigator
Assistance Publique - Hôpitaux de Paris
Brian TERVIL, PhD study director
Centre Borelli - Université Paris Descartes
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Motor function measurement using inertial sensors in people with Spinal Muscular Atrophy, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 15 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in the 95th percentile of the norm of acceleration (time frame: Month 0 to month 24). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 15 Sep 2025.