Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy (FANTASI-SMART)

May 5, 2026 updated by: Centre Hospitalier Universitaire de Saint Etienne
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by the degeneration of motor neurons in the anterior horn of the spinal cord, due to the absence of the SMN1 gene and the resulting lack of SMN protein. Some patients with particularly severe forms (types 0 or 1) die before the age of 2 in the absence of treatment, while others retain autonomous walking throughout their lives, with no reduction in life expectancy. Three treatments aimed at restoring SMN (TRS) protein expression have recently been approved by the US Food and Drug Administration and the European Medicines Agency (i.e. Nusinersen / Onasemnogene Abeparvovec / Risdiplam). Patients treated with TRS after the onset of symptoms (symptomatic patients) may show significant motor improvement, but retain difficulties such as muscle weakness and fatigue leading to limitations in activities of daily living. The aim of this study is to adapt a fatigability test, widely validated in its original version in different populations (QIF test), but adapted in this protocol to the motor level and low abilities of certain SMA patients. Our objectives are to determine whether these assessments are feasible in SMA patients, reproducible, and relevant for monitoring this population, either routinely or for future clinical trials.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Recruiting

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Interventional

Enrollment (Estimated)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
80

Phase

Phase

The stage of a clinical trial studying a drug or biological product, based on definitions developed by the U.S. Food and Drug Administration (FDA). The phase is based on the study's objective, the number of participants, and other characteristics. There are five phases: Early Phase 1 (formerly listed as Phase 0), Phase 1, Phase 2, Phase 3, and Phase 4. Not Applicable is used to describe trials without FDA-defined phases, including trials of devices or behavioral interventions.
  • 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

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • France
      • Lyon, France
        • Recruiting
        • HCL - Hôpital Croix Rousse
        • Contact:
          • Shams RIBAULT, MD
        • Principal Investigator:
          • Shams RIBAULT, MD
      • Lyon, France
        • Recruiting
        • HFME - Hospices Civils de Lyon
        • Contact:
          • Carole VUILLEROT, MD PhD
        • Principal Investigator:
          • Carole VUILLEROT, MD PhD
      • Paris, France
        • Recruiting
        • Aphp - Hopital Pitie Salpetriere
        • Principal Investigator:
          • Tanya STOJKOVIC, MD
        • Contact:
          • Tanya STOJKOVIC, MD
        • Sub-Investigator:
          • Anthony BEHIN, MD
        • Sub-Investigator:
          • Jean-Yves HOGREL, MD
    • France
      • Saint-Etienne, France, France, 42055
        • Recruiting
        • Unités de Myologie et de Médecine du Sport
        • Contact:
        • Contact:
        • Sub-Investigator:
          • Vincent GAUTHERON, MD PhD
        • Sub-Investigator:
          • Gaëlle GOUSSE, 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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • Genetically confirmed spinal muscular atrophy
  • Age ≥ 6 years
  • No orthopaedic surgery in the 6 months prior to inclusion
  • Informed consent signed by the patient(s) or parent(s)/legal guardian(s) and assent of the patient
  • Affiliated or beneficiary of a health insurance scheme (for inclusion in France)

Exclusion Criteria:

  • Other condition that may significantly interfere with the assessment of the SMA and which is clearly unrelated to the disease
  • Other associated neurological disease
  • Joint deformities that prevent correct and comfortable positioning with the various different measuring devices (thumb-index clamp, handgrip and QIF-test)
  • Contraindication to transcranial magnetic stimulation

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: Non-Randomized
  • Interventional Model: Crossover Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm

Participant Group / Arm

A group or subgroup of participants in a clinical trial that receives a specific intervention/treatment, or no intervention, according to the trial's protocol.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Experimental: Ambulatory patients (SMA-AMB)
The patient is said to be "ambulant" if he or she is able to walk and perform a muscle contraction test with the quadriceps.
Other: Grip test
Muscle contraction gripping test, consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.
Other: Quadriceps Intermittent Fatigue test (QIF test))
Quadriceps muscle contraction test consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.
Experimental: Non-ambulatory patients capable of effective grasping (SMA-PRE)
The patient is said to be "non-ambulant", with the ability to grasp the hand.
Other: Grip test
Muscle contraction gripping test, consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.
Other: Thumb test
Thumb adduction test consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.
Experimental: Non-ambulatory patients without grasping ability (SMA-POU)
The patient is said to be "non-ambulant", with the ability to contract the thumb, but without the ability to grasp the hand.
Other: Thumb test
Thumb adduction test consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Feasibility of a fatigability test adapted to the motor level of the entire population of patients with spinal muscular atrophy.
Time Frame: Day : 1
Feasibility will be assessed by the patient's success in performing the fatigability test: i.e. performing at least 2 incremental steps (i.e. at least 10 contractions at 10% of their maximum strength, then 10 contractions at 20% of their maximum strength). Validation of the feasibility of the fatigability test will be obtained if at least 80% of patients are able to perform at least the first 2 stages.
Day : 1

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Tolerance of fatigability test - Pain
Time Frame: Day : 1
The tolerance of the fatigability test will be measured by a visual analogue pain scale for adults and the FPS-R face scale for children, as recommended by the French National Authority for Health (HAS)
Day : 1
Tolerance of fatigability test - RPE
Time Frame: Day : 1
The tolerance of the fatigability test will be measured by perception of exertion (RPE) using the Borg scale (from 0 - rest to 10 - Maximal perceived effort).
Day : 1
Tolerance of fatigability test - AEs
Time Frame: Day : 1

The tolerance of the fatigability test will be measured by the recording of adverse events (AEs) such as pain, discomfort, cramp; before, at each stage and at the end of the test.

Tolerability of the fatigability test will be achieved if at least 90% of patients are able to carry out the test without having to stop it early because of the occurrence of AEs.
Day : 1
Reproducibility of the fatigability test
Time Frame: Day : 1
The reproducibility of the fatigability test will be assessed by measuring and comparing the maximum voluntary force (MVC, en Nm) and the loss of force, assessed by the same assessor.
Day : 1
Reproducibility of the central and peripheral components of fatigue - VA
Time Frame: Day : 1
The reproducibility of the central and peripheral components of fatigue will be assessed by the difference in the level of voluntary activation (% Voluntary Activation, VA) assessed by the same assessor.
Day : 1
Reproducibility of the central and peripheral components of fatigue - magnetic jerk
Time Frame: Day : 1
The reproducibility of the central and peripheral parts of the fatigue will be evaluated by the difference in the amplitude of the magnetic jerk at rest (% jerk) of the muscles investigated, evaluated by the same evaluator.
Day : 1
Perceived fatigue - FACIT-F
Time Frame: Day : 1
Perceived fatigue will be measured by the FACIT-F questionnaire (Functional Assessment of Chronic Illness Therapy) for adult patients. The FACIT-F is the instrument most frequently used to assess fatigue in the various chronic pathologies associated with chronic fatigue. It consists of a short questionnaire with 13 questions, which the patient answers on a scale from 0 to 4. The scores are added together, inverting the scale for negative sentences, to give a score out of 52 points. The lower the score, the greater the fatigue.
Day : 1
Perceived fatigue - PedsQL 4.0
Time Frame: Day : 1
Perceived fatigue will be measured by the PedsQL 4.0 fatigue questionnaire in the youngest patients (questionnaire for 6-8 year olds, 8-12 year olds, 12-17 year olds). Scores are transformed on a scale from 0 to 100, with higher scores indicating better functioning, ie lower fatigue.
Day : 1

Collaborators and Investigators

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

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Centre Hospitalier Universitaire de Saint Etienne

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Leonard FEASSON, MD PhD, Centre Hospitalier Universitaire de Saint Etienne

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)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
December 6, 2024

Primary Completion (Estimated)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
October 1, 2026

Study Completion (Estimated)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
October 1, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
August 5, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 19, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
August 20, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
May 6, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
May 5, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
May 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 23CH295
  • ANSM (Other Identifier: 2024-A02435-42)

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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