Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Recruiting now · Not applicable
Conditions studied: Spinal Amyotrophy, Infantile Spinal Muscular Atrophy, Juvenile Spinal Muscular Atrophy
In brief
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.
Key facts
- Study ID
- NCT06562283
- Run by
- Centre Hospitalier Universitaire de Saint Etienne
- People needed
- 80
- Starts
- 2024-12-06
- Expected to finish
- 2026-10-01
- Last updated by the study team
- 2026-05-06
Who can join
Age: 6 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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)
You may not qualify if…
- 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
Where it is running
- Unités de Myologie et de Médecine du Sport — Saint-Etienne, France, France (enrolling)
- HCL - Hôpital Croix Rousse — Lyon, France (enrolling)
- HFME - Hospices Civils de Lyon — Lyon, France (enrolling)
- Aphp - Hopital Pitie Salpetriere — Paris, France (enrolling)
Full record on ClinicalTrials.gov
Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.