Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE LIEGE · Aug 1, 2023

Keywords

ClinConnect Summary

The ActiLiège Next study is looking to learn more about certain muscle disorders, including Duchenne Muscular Dystrophy (DMD), Fascioscapulohumeral Muscular Dystrophy (FSHD), Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, and Congenital Muscular Dystrophy. Researchers will use a special wearable device to gather information on how these conditions affect movement over time, helping to create better ways to measure motor function in everyday life. The study is currently recruiting participants, including both patients with these muscle disorders and healthy individuals as control subjects.

To be eligible for this study, patients must have a confirmed diagnosis of one of the muscle disorders mentioned and meet specific age requirements—generally between 2 and 20 years for DMD and CNM, and 5 to 80 years for FSHD, CMT, and Myotonic Dystrophy. Participants can expect to wear the device while engaging in normal activities, which will help researchers track their muscle function in real-life settings. It's important to note that some individuals, such as elite athletes or those who have had recent surgeries affecting their limbs, may not qualify for the study. By participating, individuals can contribute to valuable research that may improve understanding and treatment of these conditions in the future.

Gender

ALL

Eligibility criteria

• • Inclusion criteria
• * For the patients:
• • Genetically confirmed diagnosis of DMD, FSHD, DM1, CMT or FKRP mutations or confirmed CNM based on muscle biopsy.
• • FSHD, DM1, CMT and CNM patients should be ambulant or in transition.
• • DM1 and CMT patients should present sensori-motor signs on physical examination.
• • Under the age of 20 years for patients with DMD, CNM or between the ages of 5 and 80 years for patients with FSHD, CMT and DM1.
• • More than 2 years old for patients with FKRP mutations
• • Non-ambulant DMD patients must be able to remain seated in an arm- or a wheelchair for at least one hour.
• • Patients with DMD treated with corticosteroids for at least 6 months or initiated corticosteroid at V0 (except for patients under 4).
• • Signed informed consent form by patient himself or, in case of minor patients, signed informed consent form by patient's parents or legal guardians.
• * For the control subjects:
• • Ambulant boys and girls under 20 years old
• • Signed informed consent form by patient him/herself or, in case of minor patients, signed informed consent form by patient's parents or legal guardians.
• Exclusion Criteria:
• * For the patients:
• • Patients with extreme cognitive disorders that limit their understanding of the exercises to be performed.
• • Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs (for ambulant patients).
• • A concomitant chronic or acute neurological, endocrine, infectious, allergic, or inflammatory pathology within the 3-week period immediately prior to inclusion.
• • Patients who are participating in an interventional clinical trial.
• • DMD patients in transition who are not on corticosteroids.
• * For the control subjects:
• • Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs.
• • Elite athletes (at the national level).
• • A chronic or acute muscular, neurological, infectious, or inflammatory pathology within the 3-week period immediately prior to inclusion.
• • An orthopedic, neuromuscular, or neurological pathology that affects the quality of the subject's walking gait.