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

NCT06562283 | Recruiting

• 2 other identifiers: 23CH295ANSM
• Study Type: interventional
• Target: 80
• Locations: 1 country
• Sites: 4

Brief 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.

Conditions

Spinal Amyotrophy; Infantile Spinal Muscular Atrophy; Juvenile Spinal Muscular Atrophy

Keywords

Spinal Muscle Atrophy; Neuromuscular performance; Fatigue; Peripheral fatigue

Outcome Measures

Primary Outcomes (1)

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

  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.

  Day : 1

Secondary Outcomes (8)

• Tolerance of fatigability test - Pain

  Day : 1

• Tolerance of fatigability test - RPE

  Day : 1

• Tolerance of fatigability test - AEs

  Day : 1

• Reproducibility of the fatigability test

  Day : 1

• Reproducibility of the central and peripheral components of fatigue - VA

  Day : 1

Study Arms (3)

Ambulatory patients (SMA-AMB)

EXPERIMENTAL

The patient is said to be "ambulant" if he or she is able to walk and perform a muscle contraction test with the quadriceps.

Other: Grip test; Other: Quadriceps Intermittent Fatigue test (QIF test))

Non-ambulatory patients capable of effective grasping (SMA-PRE)

EXPERIMENTAL

The patient is said to be "non-ambulant", with the ability to grasp the hand.

Other: Thumb test; Other: Grip test

Non-ambulatory patients without grasping ability (SMA-POU)

EXPERIMENTAL

The patient is said to be "non-ambulant", with the ability to contract the thumb, but without the ability to grasp the hand.

Other: Thumb test

Interventions

Thumb test OTHER

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

Non-ambulatory patients capable of effective grasping (SMA-PRE); Non-ambulatory patients without grasping ability (SMA-POU)

Grip test OTHER

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

Ambulatory patients (SMA-AMB); Non-ambulatory patients capable of effective grasping (SMA-PRE)

Quadriceps Intermittent Fatigue test (QIF test)) OTHER

Quadriceps muscle contraction test consisting of intermittent, repetitive isometric contractions lasting 5 seconds at incremental percentages of maximum force.

Ambulatory patients (SMA-AMB)

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Genetically confirmed spinal muscular atrophy
• Age ≥ 6 years
• Informed consent signed by the patient(s) or parent(s)/legal guardian(s) and assent of the patient

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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Saint Etienne: lead

Study Sites (4)

Unités de Myologie et de Médecine du Sport

Saint-Etienne, France, 42055, France

RECRUITING

HCL - Hôpital Croix Rousse

Lyon, France

RECRUITING

HFME - Hospices Civils de Lyon

Lyon, France

RECRUITING

Aphp - Hopital Pitie Salpetriere

Paris, France

RECRUITING

MeSH Terms

Conditions

Muscular Atrophy, Spinal; Spinal Muscular Atrophies of Childhood; Fatigue

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; Neuromuscular Diseases; Heredodegenerative Disorders, Nervous System; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Leonard FEASSON, MD PhD

  Centre Hospitalier Universitaire de Saint Etienne

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Leonard FEASSON, MD PhD

CONTACT

(0)4 77 12 03 83; leonard.feasson@chu-saint-etienne.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: CROSSOVER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 5, 2024
• First Posted: August 20, 2024
• Study Start: December 6, 2024
• Primary Completion (Estimated): October 1, 2026
• Study Completion (Estimated): October 1, 2026
• Last Updated: May 6, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (4)