Assessments in Patients with Muscular Pathology and in Control Subjects : the ActiLiège Next Study

Laurent Servais

Status: Enrolling

Conditions: Charcot-Marie-Tooth; Fascioscapulohumeral Muscular Dystrophy; Myotonic Dystrophy 1; Centronuclear Myopathy; Congenital Muscular Dystrophy; Duchenne Muscular Dystrophy

Treatments: Device: ActiMyo/Syde

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT05982119

ActiLiege Next

Details and patient eligibility

About

The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to validate digital outcome measures to continuously assess motor function in real-life.

Enrollment: 300 estimated patients

Sex: All

Ages: 1 to 80 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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.

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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300 participants in 1 patient group

Patients with DMD/FSHD/CMT/DM1/CNM/FKRPmutation or control subjects

Other group

Description:

Patients and control subjects will be included over a 3-years study period. Patients will be examined by a neuropaediatrician or neurologist and perform standardized assessments (timed tests, motor function tests, and strength tests) at baseline and then every 6 to 12 months (depending on age). From February 2024, controls subjects can be remotely recruited and enrolled. They won't be evaluated on site, but data, such as age, sex, weight, and height, will be collected by phone or visio-conference at inclusion and every 6 months for 3 years. Patients will be asked to wear the device during 1 to 3 months at baseline (depending on disease group) and then for 1 month every 3-12months (depending on age and disease group). Control subjects will be examined by a physician and perform the same tests than those for ambulant patients at baseline and 12 months. Control subjects will be asked to wear the device for two months (one month at inclusion, one month 11 months after inclusion).

Treatment:

Device: ActiMyo/Syde