Natural History Study for Patients With Nemaline Myopathy in Belgium
Acti-Nemaline
A Monocentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy
1 other identifier
interventional
10
1 country
1
Brief Summary
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at below P25 for not_applicable
Started Aug 2026
Typical duration for not_applicable
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
August 21, 2025
CompletedFirst Posted
Study publicly available on registry
October 1, 2025
CompletedStudy Start
First participant enrolled
August 1, 2026
ExpectedPrimary Completion
Last participant's last visit for primary outcome
April 1, 2029
Study Completion
Last participant's last visit for all outcomes
August 1, 2029
March 25, 2026
March 1, 2026
2.7 years
August 21, 2025
March 24, 2026
Conditions
Outcome Measures
Primary Outcomes (2)
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).
Over 3 years
Change in Ventilation Hours per Day
Evolution of the number of hours of assisted ventilation per day compared to baseline.
Over 3 years
Secondary Outcomes (2)
Change in Quality of Life Score (PROMIS-29 Profile v2.1)
Over 3 years
Drop-out Rate
Over 3 years
Other Outcomes (4)
Change in Health Utilities Index 3 (HUI3) Score
Over 3 years
Distance Walked per Hour
6 recording periods of 1 month over 3 years
Stride Speed Variability
6 recording periods of 1 month over 3 years
- +1 more other outcomes
Study Arms (1)
Participants with nemaline myopathy
EXPERIMENTALInterventions
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.
The 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.
The 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.
The 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.
The 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.
The 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 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.
Eligibility Criteria
You may qualify if:
- 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.
You may not qualify if:
- 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.
- Ongoing pregnancy (for participants becoming pregnant during the trial, some assessments may be cancelled or postponed. This will be subject to the clinical judgement of the Coordinating Investigator and/or the Principal Investigator)
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Centre Hospitalier Régional de la Citadellecollaborator
- SYSNAVcollaborator
- Centre Hospitalier Universitaire de Liegelead
Study Sites (1)
Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle
Liège, 4000, Belgium
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- STUDY DIRECTOR
Laurent Servais, MD
Centre Hospitalier Universitaire de Liege
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Principal Investigator, Neurologist
Study Record Dates
First Submitted
August 21, 2025
First Posted
October 1, 2025
Study Start (Estimated)
August 1, 2026
Primary Completion (Estimated)
April 1, 2029
Study Completion (Estimated)
August 1, 2029
Last Updated
March 25, 2026
Record last verified: 2026-03