NCT06562283Recruiting
Evaluation of the Reproducibility of a Fatigability Test Fitted to Patients With Spinal Muscular Atrophy
Source: ClinicalTrials.gov · Last updated 6 May 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Interventional
- Enrollment
- 80 (estimated)
- First submitted
- 5 Aug 2024
- Start date
- 6 Dec 2024
- Primary completion date
- Oct 2026
- Lead sponsor
- Centre Hospitalier Universitaire de Saint Etienne
- Diseases
- Spinal muscular atrophy
- NCT number
- NCT06562283
What you commit to
- Study type: Interventional
- Planned participants: 80
- From 6 Dec 2024 to the primary completion date, Oct 2026
- 4 sites in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other illness
- Other condition that may significantly interfere with the assessment of the SMA and which is clearly unrelated to the disease
- Other associated neurological disease
Other
- 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
Who the study is looking for
- 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)
Age in the registry: 6 years to - · Sex: All · Does not accept healthy volunteers
Sites (4)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| HCL - Hôpital Croix Rousse Coordinator of this site? Confirm its status | Lyon | France | Recruiting |
| HFME - HospiceS Civils De Lyon Coordinator of this site? Confirm its status | Lyon | France | Recruiting |
| Aphp - Hopital Pitie Salpetriere Coordinator of this site? Confirm its status | Paris | France | Recruiting |
| Unités de Myologie et de Médecine du Sport Coordinator of this site? Confirm its status | Saint-Etienne | France | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.