Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy

Condition(s) studied

Investigational drug(s) / intervention(s)

Thumb test: Thumb adduction test consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.

Grip test: Muscle contraction gripping test, consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.

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.

Study summary

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.

Eligibility

Primary outcome measure(s)

• Feasibility of a fatigability test adapted to the motor level of the entire population of patients with spinal muscular atrophy. — 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.

Trial sites (4)

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