Duchenne Muscular Dystrophy (DMD)
Conditions
Keywords
Non-ambulant, digital endpoint, upper limb
Brief summary
Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder caused by the absence of dystrophin, leading to progressive muscle degeneration. Symptoms typically begin in early childhood and result in loss of ambulation by early adolescence, followed by cardiorespiratory complications. Although early treatment, including corticosteroids and emerging therapies, can slow disease progression, sensitive tools to monitor functional decline-particularly in non-ambulant patients-remain limited. Current assessments rely primarily on clinical scales and hospital-based evaluations, which may not detect subtle changes or reflect real-life function. Digital outcome measures derived from wearable sensors offer a promising approach for continuous, objective monitoring in daily life. This study aims to evaluate the feasibility, reliability, clinical validity, and sensitivity of digital measures to assess upper limb function in non-ambulant patients with genetically confirmed DMD. The Syde device, previously validated in ambulant DMD patients, will be investigated for its applicability in this population.
Interventions
DIAGNOSTIC_TESTPerformance of the Upper Limb (PUL) Test
This test consists of a set of small manoeuvres (lifting a box, writing, etc.) designed to evaluate the upper-limb functionality of non-ambulatory patients. It was developed specifically for use in cases of Duchenne muscular dystrophy.
DIAGNOSTIC_TESTBrook test
The Brooke Upper Extremity Functional Rating Scale will be used to assess the global functional level of upper limb involvement. This 6-point ordinal scale classifies patients according to their highest achievable upper limb function, from full arm abduction to absence of useful hand function.
DIAGNOSTIC_TESTDynamometric measurements of muscle strength
Dynamometric measurements of the maximum force of the following functions will be taken with the MyoTools: palmar grip (MyoGrip) and thumb-index pinch (MyoPinch). Test will be realized on the dominant side. Patients will be encouraged during the test. They will be given three trials and the best score will be entered.
DIAGNOSTIC_TESTForced Vital Capacity (FVC) test
Forced Vital Capacity (FVC) will be assessed using standardized spirometry procedures. The primary parameter will be FVC expressed as percentage of predicted values. At least three acceptable and reproducible maneuvers will be performed according to standard guidelines.
DIAGNOSTIC_TESTClinical Global Impression - Severity (CGI-S)
The CGI-S is a clinician-rated scale used at baseline to assess the overall severity of the participant's condition, based on all available clinical information. The rating reflects the clinician's judgment without standardized scoring rules and must be performed by a clinician experienced in Duchenne Muscular Dystrophy. The CGI-S evaluates three domains: physical motor function, respiratory function, and bulbar function. It is completed after all other study assessments (excluding patient-reported outcomes) to ensure a comprehensive evaluation.
DIAGNOSTIC_TESTClinical Global Impression - Improvement (CGI-C)
The CGI-C is used at each follow-up visit to assess changes in the participant's condition relative to baseline. It provides a clinician-determined measure of improvement or worsening, based on overall clinical judgment rather than fixed criteria. Like the CGI-S, it covers physical motor, respiratory, and bulbar domains and is performed after all other study assessments (excluding patient-reported outcomes). The CGI-C is expected to track consistently with prior CGI-S evaluations, reflecting changes in disease status over time.
The PGI-S (Patient Global Impression of Severity) is a simple, validated, single-item self-administered scale used to assess the current severity of a patient's condition. Widely used in clinical trials, it allows patients to rate their condition, on a 4- to 6-point scale (from 'Normal' to 'Very severe').
DEVICESyde
Syde is an innovative device intended to be used in a home-based environment. It is composed of two watch-like sensors, each containing a magneto-inertial sensors that record the linear acceleration, the angular velocity, the magnetic field of the movement in all directions.The two watches can be worn as wristwatch or placed near the ankle.
Sponsors
Centre Hospitalier Universitaire de Liege
Centre Hospitalier Régional de la Citadelle
SYSNAV
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
MALE
Healthy volunteers
No
Inclusion criteria
* Patient with genetically confirmed Duchenne Muscular Dystrophy (DMD). * Non-ambulant at the time of inclusion (not able to walk 10m without external aid). * A legal guardian willing and able to provide written informed consent for participation in the study if \< 18 years old.
Exclusion criteria
* Any acute or chronic condition that, in the opinion of the investigator, may significantly interfere with the assessments and/or motor function progression. * Participation in an interventional clinical trial. * No access to internet connection or alternatively no capacity to come on-site to bring the Syde every 6 months after the recording periods for data retrieval by Liège team * Scoliosis surgery within the previous 6 months or planned within the next year
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Device usage (recording time) | Recording periods at Baseline, Month 6, Month 12, Month 18, Month 24 | Total recording time per recording period (hours) |
| Patient compliance (Min) | Recording periods at Baseline, Month 6, Month 12, Month 18, Month 24 | Percentage of participants achieving minimal threshold (expected 50h) of recording time per period |
| Patient compliance (Max) | Recording periods at Baseline, Month 6, Month 12, Month 18, Month 24 | Percentage of participants achieving optimal threshold (expected 180h) of recording time per period |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Reliability | Baseline, Month 6, Month 12, Month 18, Month 24 | Intraclass Correlation Coefficient (ICC) for two distinct consecutive half-periods |
| Clinical validity of digital outcome vs Brooke | Baseline, Month 6, Month 12, Month 18, Month 24 | Correlation between digital outcome and Brooke Upper Extremity Rating Scale (Brooke score) |
| Clinical validity of digital outcome vs PUL | Baseline, Month 6, Month 12, Month 18, Month 24 | Correlation between digital outcome and Performance of Upper Limb (PUL) score |
| Sensitivity of Digital Upper Limb Outcome Measures | Baseline, Month 6, Month 12, Month 18, Month 24 | Sensitivity will be evaluated by assessing the ability of digital outcome measures to detect change over time combining mean change from baseline, slope of change over time, and standardized response mean (SRM). |
Countries
Belgium
Contacts
CONTACTDounia Chelha
PRINCIPAL_INVESTIGATORLaurent Servais, MD
Centre Hospitalier Universitaire de Liege
Outcome results
None listed