Assessments in Patients With Muscular Pathology and in Co... | NCT05982119

NCT05982119

Status Module

Name	Class
SYSNAV	INDUSTRY

Description Module

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Patients with DMD/FSHD/CMT/DM1/CNM/FKRPmutation or control subjects	Other	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).	Device: ActiMyo/Syde

Interventions

Name	Type	Description	Arm Group Labels	Other Names
ActiMyo/Syde	Device	The two "watches" can be worn as wristwatch or placed near the ankle and on the wheelchair. Patients with DMD or FKRP mutation will wear the ActiMyo°/Syde° during 3 months at baseline and then for one month every 3 months. Patient with FSHD, DM1, CMT, CNM will wear the ActiMyo°/Syde° will wear the ActiMyo/Syde° during 3 months at baseline and then for one month every 6 months. Control subjects >4years will wear the ActiMyo°/Syde° during one month after inclusion and during one other month 11 months after inclusion. Control subjects <4years will wear the ActiMyo°/Syde° during one month after inclusion and during one other month every 6months after inclusion.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Stride velocity	Stride velocity obtained with a magneto-inertial sensor (Actimyo°) in real-life (meter per second).	through study completion (3 year)
Stride length	Stride length obtained with a magneto-inertial sensor (Actimyo°) in real-life (meter).	through study completion (3 year)
Stairs number	Total number of strides in stairs obtained with a magneto-inertial sensor (Actimyo°) in real-life	through study completion (3 year)
Stairs speed	Vertical speed during strides in stairs obtained with a magneto-inertial sensor (Actimyo°) in real-life	through study completion (3 year)
Stairs height	Height of the strides in stairs obtained with a magneto-inertial sensor (Actimyo°) in real-life	through study completion (3 year)

Eligibility Module

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.

Name	Role	Phone	Extension	Email
Charline DUBOIS	Contact	043215695	+32	charline.dubois@citadelle.be

Facility	Status	City	State	ZIP	Country	Contacts
CHR de la Citadelle	Recruiting	Liège		4000	Belgium

ID	Term
D020388	Muscular Dystrophy, Duchenne
D020391	Muscular Dystrophy, Facioscapulohumeral
D009223	Myotonic Dystrophy
D002607	Charcot-Marie-Tooth Disease
D020914	Myopathies, Structural, Congenital

Ancestor Terms

ID	Term
D009136	Muscular Dystrophies
D020966	Muscular Disorders, Atrophic
D009135	Muscular Diseases
D009140	Musculoskeletal Diseases
D009468	Neuromuscular Diseases
D009422	Nervous System Diseases
D040181	Genetic Diseases, X-Linked
D030342	Genetic Diseases, Inborn
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D020967	Myotonic Disorders
D020271	Heredodegenerative Disorders, Nervous System
D019636	Neurodegenerative Diseases
D015417	Hereditary Sensory and Motor Neuropathy
D009421	Nervous System Malformations
D011115	Polyneuropathies
D010523	Peripheral Nervous System Diseases
D000013	Congenital Abnormalities