This is a prospective, longitudinal, observational study designed to characterize the natural history of Nemaline Myopathy (NM), a rare congenital neuromuscular disorder. The study will follow up to 10 participants of any age with genetically confirmed NM over a period of three years. Data will be collected during routine annual hospital visits and include clinical, motor, respiratory, and quality-of-life assessments. The goal is to improve clinical trial readiness by identifying disease-specific outcome measures and potential biomarkers.
Male or Female
Any age
Patient and/or parent or legal guardian must be willing and have the ability to provide written informed consent for participation in the study.
Diagnosis of NM which in most cases includes having a disease-causing variant/s in one of the known NM causative genes and a consistent clinical phenotype.
Any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures. This will be subject to the clinical judgement of the Coordinating Investigator (CI) and/or the Principal Investigator (PI).
Clinically significant medical finding on the physical examination other than NM that, in the judgment of the Investigator, will make the patient unsuitable for participation in, and/or completion of the study procedures.
Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of NM.
Safety concerns. This includes anything that might put the participant and/or their Parent(s) or Guardian(s) at risk through participating in the study potentially including but not limited to: Safeguarding concerns, Social Issues and Health issues.
Single group
Motor Function Assessments
Diagnostic testThe planned functional motor assessments are specific to age and degree of motor impairment. Participants are expected to have varying degrees of motor impairment, for example some will be non-ambulant. There is also a wide range of ages of participants. Therefore, some assessments will not be applicable. Some participants may gain or lose these abilities during the study and the assessments they complete shall be tailored accordingly aiming to reflect their most typical abilities on the day assessed.
Syde
DeviceSyde 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.
Respiratory Assessments
Diagnostic testThe planned respiratory assessments are tailored to the participant's age and respiratory capacity. Participants are expected to have varying degrees of respiratory impairment, and some assessments may not be applicable to all. As participants may gain or lose respiratory function over the course of the study, the assessments completed will be adapted accordingly to reflect their most typical respiratory abilities on the day of assessment.
Bulbar Function Questionnaires
Diagnostic testThe planned bulbar function assessments are age-specific and designed to reflect the participant's typical oral intake abilities. For participants aged 1-17 years, the Children's Eating and Drinking Activity Scale (CEDAS), will be used. For those aged 18 years and older, the Functional Oral Intake Scale (FOIS) will be applied. Both tools are part of a unified 7-item scale validated across paediatric and adult populations, ensuring continuity across age groups.
Clinical Global Impression (CGI)
Diagnostic testThe Clinical Global Impression (CGI) tool will be used to assess overall disease severity and improvement across three functional domains: Physical Motor Function, Respiratory Function, and Bulbar Function. Assessments are based on clinician judgment using all available clinical data and are conducted by clinicians experienced with the disease under study.
Quality of Life Questionnaires
Other interventionThe planned quality of life and functional status assessments are designed to capture the participant's overall well-being and daily functioning, taking into account the wide range of ages and disease severities in the study population. Validated questionnaires appropriate to age and functional level will be used to evaluate aspects such as health-related quality of life, fatigue, and daily activity limitations.
Blood Sample Collection
Procedure/SurgeryBlood sample collection is usually done annually for NM patients as part of their standard of care. This is usually done by a nurse or a medical doctor according to standard guidelines for blood sampling. During routine blood sampling, additional blood will be collected and up to 20 ml of blood will be taken.
Change in Motor Function Measure (MFM32) Score
Difference in MFM32 score from baseline to each follow-up visit. The MFM32 is a validated scale (range 0-96; higher scores indicate better motor function).
Change in Ventilation Hours per Day
Evolution of the number of hours of assisted ventilation per day compared to baseline.
Change in Quality of Life Score (PROMIS-29 Profile v2.1)
Difference in PROMIS-29 Profile v2.1 score from baseline to follow-up visits. PROMIS-29 includes 29 items across 7 domains (physical function, anxiety, depression, fatigue, sleep disturbance, social roles, pain interference) plus pain intensity. Higher T-scores indicate more of the concept being measured (e.g., higher fatigue score = more fatigue).
Drop-out Rate
Percentage of participants who discontinue participation before study completion.
Change in Health Utilities Index 3 (HUI3) Score
Difference in HUI3 score from baseline to follow-up visits (range -0.36 to 1.00; higher scores indicate better health status).
Distance Walked per Hour
Average distance walked per hour measured by wearable sensors.
Stride Speed Variability
Coefficient of variation of stride speed measured by wearable sensors.
Number of Falls
Number of falls recorded by wearable sensors during continuous monitoring in ambulant patients.
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Centre Hospitalier Universitaire de Liege
Lead sponsor
Centre Hospitalier Régional de la Citadelle
Collaborator
SYSNAV
Collaborator
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