Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Thumb test, Grip test, Quadriceps Intermittent Fatigue test (QIF test)).
- Who it may be relevant to
- Registry conditions: Spinal Amyotrophy, Infantile Spinal Muscular Atrophy, Juvenile Spinal Muscular Atrophy. Basic parameters: from 6 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Interventions
- Other Thumb test
Thumb adduction test consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force. - 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.
Primary outcome measures
- Feasibility of a fatigability test adapted to the motor level of the entire population of patients with spinal muscular atrophy. [Time frame: Day : 1]
Secondary outcome measures (8)
- Tolerance of fatigability test - Pain [Time frame: Day : 1]
- Tolerance of fatigability test - RPE [Time frame: Day : 1]
- Tolerance of fatigability test - AEs [Time frame: Day : 1]
- Reproducibility of the fatigability test [Time frame: Day : 1]
- Reproducibility of the central and peripheral components of fatigue - VA [Time frame: Day : 1]
- Reproducibility of the central and peripheral components of fatigue - magnetic jerk [Time frame: Day : 1]
- Perceived fatigue - FACIT-F [Time frame: Day : 1]
- Perceived fatigue - PedsQL 4.0 [Time frame: Day : 1]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- Non-randomized
- Model
- Crossover
- Masking
- Open label
- Primary purpose
- Other
Study locations
France · 4 centers
- Unités de Myologie et de Médecine du Sport — Saint-Etienne
- HCL - Hôpital Croix Rousse — Lyon
- HFME - Hospices Civils de Lyon — Lyon
- Aphp - Hopital Pitie Salpetriere — Paris
Identifiers
NCT: NCT06562283 · 23CH295 · ANSM