Nemaline MyopathyNCT07488806
Natural History Study for Patients With Nemaline Myopathy in Spain
An observational study of Nemaline Myopathy and Myopathies, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
Trial summary
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Nemaline Myopathy, Myopathies, Myopathic Conditions
- What is being tested?
- Muscle Ultrasound, Motor function scales and Complete physical examination
- Type of treatment
- Medical device
- How many people
- 100 participants
- Where
- 1 siteSpain
- Study dates
- Jun 2026to Jun 2032
- How long will I take part?
- 5 Years
- Phase
- Observational
- 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
Study population: Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
Who may be able to join
- Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
- Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Spain1 site, 1 recruiting
- Recruiting
University Hospital Vall d'Hebron
Barcelona, 08035
Neuromuscular Unit - Pediatric Neurology, 934893156, neurologia.pediatrica@vallhebron.cat
About this study
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Read the detailed description
The aims of the study are:
- Identify the specific genes and mutations responsible for NM in Spain.
- Define the in-depth phenotyping of NM and the phenotype-genotype relationship.
- Characterize the natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to:
- Describe the progression of the disease without disease-modifying therapies.
- Identify reliable biomarkers and outcome measures for future clinical trials.
- Align the national protocol with international efforts to generate comparable data.
- Conditions
- Nemaline Myopathy, Myopathies, Myopathic Conditions, NEB, ACTA1, TPM2
- Being tested
- Muscle Ultrasound, Motor function scales, Complete physical examination, Ventilatory/ respiratory, Cardiac and other support assessment, QOL assessment, Neuropsychological
- Keywords
- NATURAL HISTORY, NEMALINE MYOPATHY
- Medical subject headings
- Myopathies, Nemaline, Muscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Muscle UltrasoundDiagnostic test
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Motor function scalesDiagnostic test
Evaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL)
Complete physical examinationOther
Complete physical evaluations including muscle power and goniometry measurements
Ventilatory/ respiratory, Cardiac and other support assessmentOther
Assessment of ventilatory, cardiac, nutritional, and other support needs
QOL assessment, NeuropsychologicalOther
Assessment of quality of life
Digital BiomarkersDevice
Video/photos with the aim is to record actions such as lifting a glass, raising arms above the head, getting up from the floor or a chair, walking, or running, in order to later analyze in detail how these movements are performed.
Oromotor function and nutritionOther
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor Milestone AssessmentsOther
Motor milestones age of acquisition and loss (if applicable)
| Study group | Role | What they receive |
|---|---|---|
| All patients | Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy Receives: Diagnostic Test: Muscle Ultrasound; Diagnostic Test: Motor function scales; Other: Complete physical examination; Other: Ventilatory/ respiratory, Cardiac and other support assessment; Other: QOL assessment, Neuropsychological; Device: Digital Biomarkers; Other: Oromotor function and nutrition; Other: Motor Milestone Assessments |
What is being measured
The primary outcome is the main question the study is designed to answer.
Observe changes in muscle echogenicity by muscle ultrasound.
A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (score 1-4):
- Heckmatt grade 1 represents a normal muscle image.
- Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions.
- Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture.
- Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.
Measured: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items. Scores range from 0 to 64, with higher scores indicating better motor function.
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability.
Measured: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
This is a 37-item measure of infant developmental motor milestones that will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function.
Measured: Change from baseline through study completion, an average of 5 years
Observe natural history changes in Peabody Developmental Motor Scales (PDMS-3) Scale Score
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. PDMS-3 measures various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Higher scores indicate higher level of function.
Measured: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the Motor Function Measure (MFM32) Scale Score
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.
Measured: Change from baseline through study completion, an average of 5 years
Observe natural history changes in motor function using the North Star Ambulatory Assessment (NSAA) score
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. Scores in the NSAA scale range from 0 to 34, with higher scores indicating better motor function.
Measured: Change from baseline through study completion, an average of 5 years
Observe natural history changes in the Performance of Upper Limb (PUL) score
Change in upper limb function assessed using the Performance of Upper Limb (PUL) scale. Higher scores indicate better function.
Measured: Change from baseline through study completion, an average of 5 years
Secondary outcomes (3)
Observe the natural clinical progression in respiratory function.
Respiratory function will be assessed longitudinally using age-appropriate measures depending on patient ability. Respiratory status will include ventilatory support requirements (none, non-invasive ventilation, or invasive ventilation) and time on/off ventilator, when feasible. Forced vital capacity (FVC), expressed as percent predicted for age and sex, will be used when spirometry is possible.
Measured: Change from baseline through study completion, an average of 5 years
Observe changes in Nutritional Status
Assessment of nutritional status over time through indicators such as feeding method (oral versus enteral feeding) and need for nutritional support. Swallowing status and dietary modifications will be recorded when applicable. Changes from baseline will be analyzed to evaluate nutritional progression and feeding outcomes.
Measured: Change from baseline through study completion, an average of 5 years
Observe changes in Quality of Life
Assessment of patient or caregiver-reported quality of life using validated questionnaires appropriate for age and functional status, including standardized health-related quality of life instruments (the Clinical Global Impression-Severity [CGI-S], the Clinical Global Impression-Change [CGI-C], Patient Global Impression of Change [PGI-C], and Patient Global Impression of Severity [PGI-S]). Total scores and domain-specific scores will be analyzed. Changes from baseline will be evaluated to assess perceived health status and daily functioning.
Measured: Change from baseline through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Mar 2026
- Study startJun 2026 (estimated)
- Primary completionJun 2031 (estimated)
- Study completionJun 2032 (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.
- More trials run by Hospital Universitari Vall d'Hebron Research InstituteThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07488806
- Sponsor's protocol ID
- PR(AMI)251/2025
- Status last verified
- Mar 2026
- First submitted
- 25 Feb 2026
- Last updated
- 23 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History Study for Patients With Nemaline Myopathy in Spain
- ClinicalTrials.gov ID
- NCT07488806
- Acronym / sponsor ID
- PR(AMI)251/2025
- Conditions
- Nemaline Myopathy, Myopathies, Myopathic Conditions, NEB, ACTA1, TPM2
- Keywords
- NATURAL HISTORY, NEMALINE MYOPATHY
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Study start
- Jun 2026 (estimated)
- Primary completion
- Jun 2031 (estimated)
- Study completion
- Jun 2032 (estimated)
- First posted
- 23 Mar 2026 (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.
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.
Detailed description
The aims of the study are:
- Identify the specific genes and mutations responsible for NM in Spain.
- Define the in-depth phenotyping of NM and the phenotype-genotype relationship.
- Characterize the natural history of NM through the systematic collection of clinical (retrospective and prospective data), functional, and respiratory data in diagnosed patients in order to:
- Describe the progression of the disease without disease-modifying therapies.
- Identify reliable biomarkers and outcome measures for future clinical trials.
- Align the national protocol with international efforts to generate comparable data.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All patients | – | Diagnostic Test: Muscle Ultrasound, Diagnostic Test: Motor function scales, Other: Complete physical examination, Other: Ventilatory/ respiratory, Cardiac and other support assessment, Other: QOL assessment, Neuropsychological, Device: Digital Biomarkers, Other: Oromotor function and nutrition, Other: Motor Milestone AssessmentsPatients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
Key inclusion criteria (2 listed)
- Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.
- Signed informed consent by the patient or Legal Authority Responsible, and/or assent by the subject (in pediatric population).
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| Muscle UltrasoundUltrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale). | Diagnostic test | All patients |
| Motor function scalesEvaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL) | Diagnostic test | All patients |
| Complete physical examinationComplete physical evaluations including muscle power and goniometry measurements | Other | All patients |
| Ventilatory/ respiratory, Cardiac and other support assessmentAssessment of ventilatory, cardiac, nutritional, and other support needs | Other | All patients |
| QOL assessment, NeuropsychologicalAssessment of quality of life | Other | All patients |
| Digital BiomarkersVideo/photos with the aim is to record actions such as lifting a glass, raising arms above the head, getting up from the floor or a chair, walking, or running, in order to later analyze in detail how these movements are performed. | Device | All patients |
| Oromotor function and nutritionAssessment of bulbar funcionality: feeding devices, nutritional status. | Other | All patients |
| Motor Milestone AssessmentsMotor milestones age of acquisition and loss (if applicable) | Other | All patients |
Primary outcome
Observe changes in muscle echogenicity by muscle ultrasound.
Time frame: Change from baseline through study completion, an average of 5 years
A standardized muscle ultrasound protocol of assessment is performed (whole body). Muscle images are scored using the Heckmatt scale (score 1-4): * Heckmatt grade 1 represents a normal muscle image. * Heckmatt grade 2 shows an increased echogenicity without attenuation of the deeper image regions. * Heckmatt grade 3 indicates a larger increase in echogenicity with some visible loss of normal muscle architecture. * Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.
Observe natural history changes in motor function using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
Time frame: Change from baseline through study completion, an average of 5 years
The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items. Scores range from 0 to 64, with higher scores indicating better motor function. Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability.
Observe natural history changes in motor function using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
Time frame: Change from baseline through study completion, an average of 5 years
This is a 37-item measure of infant developmental motor milestones that will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function.
Observe natural history changes in Peabody Developmental Motor Scales (PDMS-3) Scale Score
Time frame: Change from baseline through study completion, an average of 5 years
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. PDMS-3 measures various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Higher scores indicate higher level of function.
Observe natural history changes in motor function using the Motor Function Measure (MFM32) Scale Score
Time frame: Change from baseline through study completion, an average of 5 years
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.
Observe natural history changes in motor function using the North Star Ambulatory Assessment (NSAA) score
Time frame: Change from baseline through study completion, an average of 5 years
Change in motor function assessed using age-appropriate validated motor scales and dependent on patient's ability. Scores in the NSAA scale range from 0 to 34, with higher scores indicating better motor function.
Observe natural history changes in the Performance of Upper Limb (PUL) score
Time frame: Change from baseline through study completion, an average of 5 years
Change in upper limb function assessed using the Performance of Upper Limb (PUL) scale. Higher scores indicate better function.
3 secondary outcomes
Observe the natural clinical progression in respiratory function.
Time frame: Change from baseline through study completion, an average of 5 years
Observe changes in Nutritional Status
Time frame: Change from baseline through study completion, an average of 5 years
Observe changes in Quality of Life
Time frame: Change from baseline through study completion, an average of 5 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 23 Mar 2026.
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nemaline Myopathy and Myopathies, run by Hospital Universitari Vall d'Hebron Research Institute at 1 site in Spain.
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 2 inclusion and 0 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: looking for participants now, as of the sponsor's last update on 23 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 Spain. 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 Laura Costa-Comellas, M.D. (+34677255332, laura.costacomellas@vallhebron.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Observe changes in muscle echogenicity by muscle ultrasound. (time frame: Change from baseline through study completion, an average of 5 years). The study lists 7 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 23 Mar 2026.