MedDataX Logo

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

NCT ID: NCT06562283

Last Updated: 2024-12-19

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

80 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-12-06

Study Completion Date

2026-10-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Spinal Amyotrophy Infantile Spinal Muscular Atrophy Juvenile Spinal Muscular Atrophy

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

Spinal Muscle Atrophy Neuromuscular performance Fatigue Peripheral fatigue

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NON_RANDOMIZED

Intervention Model

CROSSOVER

Primary Study Purpose

OTHER

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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.

Group Type EXPERIMENTAL

Grip test

Intervention Type OTHER

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))

Intervention Type OTHER

Quadriceps muscle contraction 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)

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

Group Type EXPERIMENTAL

Thumb test

Intervention Type OTHER

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

Grip test

Intervention Type OTHER

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

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.

Group Type EXPERIMENTAL

Thumb test

Intervention Type OTHER

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

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Thumb test

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

Intervention Type OTHER

Grip test

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

Intervention Type OTHER

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.

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* 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)

Exclusion Criteria

* 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
Minimum Eligible Age

6 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Centre Hospitalier Universitaire de Saint Etienne

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Leonard FEASSON, MD PhD

Role: PRINCIPAL_INVESTIGATOR

CHU SAINT-ETIENNE

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

HCL - Hôpital Croix Rousse

Lyon, , France

Site Status RECRUITING

HFME - Hospices Civils de Lyon

Lyon, , France

Site Status RECRUITING

Aphp - Hopital Pitie Salpetriere

Paris, , France

Site Status RECRUITING

Unités de Myologie et de Médecine du Sport

Saint-Etienne, , France

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

France

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Leonard FEASSON, MD PhD

Role: CONTACT

Phone: (0)4 77 12 03 83

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Shams RIBAULT, MD

Role: primary

Carole VUILLEROT, MD PhD

Role: primary

Tanya STOJKOVIC, MD

Role: primary

Léonard FEASSON, MD PhD

Role: primary

Diana RIMAUD, engineer

Role: backup

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

ANSM

Identifier Type: OTHER

Identifier Source: secondary_id

23CH295

Identifier Type: -

Identifier Source: org_study_id