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

Status: Recruiting
Location: See all (4) locations...
Intervention Type: Other
Study Type: Interventional
Study Phase: Not Applicable
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
Participation Requirements
Sex: All
Minimum Age: 6
Healthy Volunteers: f
View:

• 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)

Locations
Other Locations
France
HCL - Hôpital Croix Rousse
RECRUITING
Lyon
HFME - Hospices Civils de Lyon
RECRUITING
Lyon
Aphp - Hopital Pitie Salpetriere
RECRUITING
Paris
Unités de Myologie et de Médecine du Sport
RECRUITING
Saint-etienne
Contact Information
Primary
Leonard FEASSON, MD PhD
leonard.feasson@chu-saint-etienne.fr
(0)4 77 12 03 83
Time Frame
Start Date: 2024-12-06
Estimated Completion Date: 2026-10
Participants
Target number of participants: 80
Treatments
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.
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.
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.
Sponsors
Leads: Centre Hospitalier Universitaire de Saint Etienne

This content was sourced from clinicaltrials.gov