Nemaline MyopathyActi-NemalineNCT07201636
Natural History Study for Patients With Nemaline Myopathy in Belgium
A study testing Motor Function Assessments, Syde and Respiratory Assessments in people with Nemaline Myopathy, run by Centre Hospitalier Universitaire de Liege at 1 site in Belgium.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Nemaline Myopathy
- What is being tested?
- Motor Function Assessments, Syde and Respiratory Assessments
- Type of treatment
- Pill or oral medicine, Medical device, Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteBelgium
- Study dates
- Aug 2026to Aug 2029
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- 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)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Belgium1 site
Centre de référence des maladies neuromusculaire, Centre Hospitalier Régional de la Citadelle
Liège, 4000
Nicolas Bovy, +3243218095, nicolas.bovy@citadelle.be
Manon Hustinx, MD
About this study
Official title: A Monocentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy
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.
Read the detailed description
Nemaline Myopathies (NM) are a group of rare, genetically and clinically heterogeneous congenital myopathies characterized by the presence of nemaline bodies (rods) on muscle biopsy. The estimated incidence is approximately 1 in 50,000, though this is likely underestimated due to phenotypic variability and underdiagnosis of milder forms. NM typically presents in childhood, but adult-onset cases have been reported, often with retrospectively recognized early symptoms. Clinical manifestations range from severe neonatal presentations requiring mechanical ventilation, to milder forms compatible with ambulation and normal lifespan. Common features include congenital hypotonia, bulbar and respiratory involvement, and proximal muscle weakness, with sparing of extraocular muscles.
NM is associated with mutations in at least 12 genes, including NEB and ACTA1, which account for the majority of genetically confirmed cases. Inheritance patterns can be autosomal dominant or recessive. Despite advances in genetic diagnostics, a subset of patients remains without a confirmed molecular diagnosis.
Currently, treatment is supportive and aligned with general standards of care for congenital myopathies. However, several therapeutic strategies are in preclinical development, targeting gene-specific mechanisms, muscle function, and myogenesis. Clinical translation is challenged by disease rarity, heterogeneity, and the lack of validated outcome measures and biomarkers.
This monocentric study aims to address these gaps by prospectively observing up to 10 patients with NM over three years. Study assessments will coincide with routine annual hospital visits to minimize participant burden. For participants under 18 years of age, additional assessments at 6 and 18 months will be conducted to capture developmental changes.
Data collection will include:
Medical and neurological examinations Age- and ability-adapted motor and respiratory outcome measures Questionnaires assessing swallowing, fatigue, quality of life, and health economics.
Visit durations will vary based on age and ability, including standard care appointments. This study will provide critical longitudinal data to support the development of future clinical trials by identifying relevant outcome measures and potential biomarkers for NM.
- Conditions
- Nemaline Myopathy
- Being tested
- Motor Function Assessments, Syde, Respiratory Assessments, Bulbar Function Questionnaires, Clinical Global Impression (CGI)
- Medical subject headings
- Myopathies, Nemaline
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Motor Function AssessmentsDiagnostic test
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.
SydeDevice
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.
Respiratory AssessmentsDiagnostic test
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.
Bulbar Function QuestionnairesDiagnostic test
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.
Clinical Global Impression (CGI)Diagnostic test
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.
Quality of Life QuestionnairesOther
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 CollectionProcedure or surgery
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.
| Study group | Role | What they receive |
|---|---|---|
| Participants with nemaline myopathy | Experimental | Not described Receives: Diagnostic Test: Motor Function Assessments; Device: Syde; Diagnostic Test: Respiratory Assessments; Diagnostic Test: Bulbar Function Questionnaires; Diagnostic Test: Clinical Global Impression (CGI); Other: Quality of Life Questionnaires; Procedure: Blood Sample Collection |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: Over 3 years
Change in Ventilation Hours per Day
Evolution of the number of hours of assisted ventilation per day compared to baseline.
Measured: Over 3 years
Secondary outcomes (2)
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).
Measured: Over 3 years
Drop-out Rate
Percentage of participants who discontinue participation before study completion.
Measured: Over 3 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Oct 2025
- Study startAug 2026 (estimated)
- Primary completionApr 2029 (estimated)
- Study completionAug 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Nemaline MyopathyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Liege
- Sponsor type
- University, hospital or other
- Collaborators
- Centre Hospitalier Régional de la Citadelle, SYSNAV
- Responsible party
- Principal investigator, Manon HUSTINX, Centre Hospitalier Universitaire de Liege
- Investigators
- Laurent Servais, MD, Study director, Centre Hospitalier Universitaire de Liege
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07201636
- Sponsor's protocol ID
- Acti-Nemaline
- Acronym
- Acti-Nemaline
- Status last verified
- Mar 2026
- First submitted
- 21 Aug 2025
- Last updated
- 25 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 25 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Monocentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy
- ClinicalTrials.gov ID
- NCT07201636
- Acronym / sponsor ID
- Acti-Nemaline / Acti-Nemaline
- Conditions
- Nemaline Myopathy
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- Centre Hospitalier Universitaire de LiegeUniversity, hospital or other
- Collaborators
- Centre Hospitalier Régional de la Citadelle, SYSNAV
- Study start
- Aug 2026 (estimated)
- Primary completion
- Apr 2029 (estimated)
- Study completion
- Aug 2029 (estimated)
- First posted
- 1 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Nemaline Myopathies (NM) are a group of rare, genetically and clinically heterogeneous congenital myopathies characterized by the presence of nemaline bodies (rods) on muscle biopsy. The estimated incidence is approximately 1 in 50,000, though this is likely underestimated due to phenotypic variability and underdiagnosis of milder forms. NM typically presents in childhood, but adult-onset cases have been reported, often with retrospectively recognized early symptoms. Clinical manifestations range from severe neonatal presentations requiring mechanical ventilation, to milder forms compatible with ambulation and normal lifespan. Common features include congenital hypotonia, bulbar and respiratory involvement, and proximal muscle weakness, with sparing of extraocular muscles.
NM is associated with mutations in at least 12 genes, including NEB and ACTA1, which account for the majority of genetically confirmed cases. Inheritance patterns can be autosomal dominant or recessive. Despite advances in genetic diagnostics, a subset of patients remains without a confirmed molecular diagnosis.
Currently, treatment is supportive and aligned with general standards of care for congenital myopathies. However, several therapeutic strategies are in preclinical development, targeting gene-specific mechanisms, muscle function, and myogenesis. Clinical translation is challenged by disease rarity, heterogeneity, and the lack of validated outcome measures and biomarkers.
This monocentric study aims to address these gaps by prospectively observing up to 10 patients with NM over three years. Study assessments will coincide with routine annual hospital visits to minimize participant burden. For participants under 18 years of age, additional assessments at 6 and 18 months will be conducted to capture developmental changes.
Data collection will include:
Medical and neurological examinations Age- and ability-adapted motor and respiratory outcome measures Questionnaires assessing swallowing, fatigue, quality of life, and health economics.
Visit durations will vary based on age and ability, including standard care appointments. This study will provide critical longitudinal data to support the development of future clinical trials by identifying relevant outcome measures and potential biomarkers for NM.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants with nemaline myopathy | Experimental | Diagnostic Test: Motor Function Assessments, Device: Syde, Diagnostic Test: Respiratory Assessments, Diagnostic Test: Bulbar Function Questionnaires, Diagnostic Test: Clinical Global Impression (CGI), Other: Quality of Life Questionnaires, Procedure: Blood Sample Collection |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (5 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Motor Function AssessmentsThe 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. | Diagnostic test | Participants with nemaline myopathy |
| SydeSyde 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. | Device | Participants with nemaline myopathy |
| Respiratory AssessmentsThe 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. | Diagnostic test | Participants with nemaline myopathy |
| Bulbar Function QuestionnairesThe 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. | Diagnostic test | Participants with nemaline myopathy |
| Clinical Global Impression (CGI)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. | Diagnostic test | Participants with nemaline myopathy |
| Quality of Life QuestionnairesThe 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. | Other | Participants with nemaline myopathy |
| Blood Sample CollectionBlood 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. | Procedure or surgery | Participants with nemaline myopathy |
Primary outcome
Change in Motor Function Measure (MFM32) Score
Time frame: Over 3 years
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
Time frame: Over 3 years
Evolution of the number of hours of assisted ventilation per day compared to baseline.
2 secondary outcomes
Change in Quality of Life Score (PROMIS-29 Profile v2.1)
Time frame: Over 3 years
Drop-out Rate
Time frame: Over 3 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Mar 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Laurent Servais, MD study director
Centre Hospitalier Universitaire de Liege
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Motor Function Assessments, Syde and Respiratory Assessments in people with Nemaline Myopathy, run by Centre Hospitalier Universitaire de Liege at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 25 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Nicolas Bovy (+3243218095, nicolas.bovy@citadelle.be), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Motor Function Measure (MFM32) Score (time frame: Over 3 years). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Mar 2026.