LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)NCT06924125
Spanish Natural History Study for LAMA2 Muscular Dystrophy
An observational study of LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) and Merosin Deficient CMD (Full or Partial), 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 LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. Read more about this study
- Who is it for?
- Ages 0 minutes to 100 years
- Conditions the study is for
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy
- What is being tested?
- Motor function scales, MUSCLE ULTRASOUND and Muscle Elastography
- How many people
- 100 participants
- Where
- 1 siteSpain
- Study dates
- 27 Jul 2021to 1 Jul 2030
- 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 0 minutes to 100 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: All patients with compatible clinical presentation and genetical confirmation LAMA2-RD
Who may be able to join
- All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
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, Barcelona, 08035
Neurologia Pediatrica - HUVH, 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 LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. 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.
- Conditions
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy, Muscular Dystrophies, Cohort Studies
- Being tested
- Motor function scales, MUSCLE ULTRASOUND, Muscle Elastography, Complete physical examination, Ventilatory/ respiratory and other support assessment
- Keywords
- Merosin, LAMA2, Laminin, Dystrophy, natural history
- Medical subject headings
- Muscular dystrophy congenital, merosin negative, Muscular Dystrophies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Motor function scalesDiagnostic test
Evaluation of patients motor function using motor scales (MFM32, CHOP)
MUSCLE ULTRASOUNDDiagnostic test
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Muscle ElastographyDiagnostic test
Assess the mechanical properties of muscles, such as stiffness and elasticity.
Complete physical examinationOther
Complete physical evaluations including muscle power and goniometry measurements
Ventilatory/ respiratory and other support assessmentOther
Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
Oromotor function and nutritionOther
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor Milestone AssessmentsOther
Motor milestones age of acquisition and loss
| Study group | Role | What they receive |
|---|---|---|
| All patients | Compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant Receives: Diagnostic Test: Motor function scales; Diagnostic Test: MUSCLE ULTRASOUND; Diagnostic Test: Muscle Elastography; Other: Complete physical examination; Other: Ventilatory/ respiratory and other support assessment; 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.
Change in Motor function Measurement (MFM32) score
Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score yearly, over a period of 5 years.
Measured: Change from baseline through study completion, an average of 5 years
Change in Motor Milestones
Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking)
Measured: Change from baseline through study completion, an average of 5 years
Change 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, and 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Apr 2025
- Study start27 Jul 2021
- Primary completion1 Jul 2030 (estimated)
- Study completion1 Jul 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)Studies 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
- Collaborators
- ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06924125
- Sponsor's protocol ID
- PR(AMI)/433/2021
- Status last verified
- Apr 2025
- First submitted
- 7 Mar 2025
- Last updated
- 11 Apr 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Spanish Natural History Study for LAMA2 Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT06924125
- Acronym / sponsor ID
- PR(AMI)/433/2021
- Conditions
- LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial), Merosin Deficient Congenital Muscular Dystrophy, Muscular Dystrophies, Cohort Studies
- Keywords
- Merosin, LAMA2, Laminin, Dystrophy, natural history
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Hospital Universitari Vall d'Hebron Research InstituteUniversity, hospital or other
- Collaborators
- ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA
- Study start
- 27 Jul 2021 (actual)
- Primary completion
- 1 Jul 2030 (estimated)
- Study completion
- 1 Jul 2030 (estimated)
- First posted
- 11 Apr 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.
The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All patients | – | Diagnostic Test: Motor function scales, Diagnostic Test: MUSCLE ULTRASOUND, Diagnostic Test: Muscle Elastography, Other: Complete physical examination, Other: Ventilatory/ respiratory and other support assessment, Other: Oromotor function and nutrition, Other: Motor Milestone AssessmentsCompatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant |
Who may qualify
- Ages
- 0 minutes to 100 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- All patients with compatible clinical presentation and genetical confirmation LAMA2-RD
Key inclusion criteria (2 listed)
- All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
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 |
|---|---|---|
| Motor function scalesEvaluation of patients motor function using motor scales (MFM32, CHOP) | Diagnostic test | All patients |
| MUSCLE ULTRASOUNDUltrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale). | Diagnostic test | All patients |
| Muscle ElastographyAssess the mechanical properties of muscles, such as stiffness and elasticity. | Diagnostic test | All patients |
| Complete physical examinationComplete physical evaluations including muscle power and goniometry measurements | Other | All patients |
| Ventilatory/ respiratory and other support assessmentAssessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices | Other | 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 | Other | All patients |
Primary outcome
Change in Motor function Measurement (MFM32) score
Time frame: Change from baseline through study completion, an average of 5 years
Global motor functioning. The items of the MFM are classified in 3 domains: D1: standing and transfers, D2: Axial and proximal motor function, D3: Distal motor function. Higher scored indicate a better outcome. The range of the total score is 0-96. The main point of interest includes the change of MFM score yearly, over a period of 5 years.
Change in Motor Milestones
Time frame: Change from baseline through study completion, an average of 5 years
Age at acquisition (yes/no) and loss of all motor functions (ex: Head control, sitting, standing, walking, running, climbing stairs and tip toe walking)
Change 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, and Heckmatt grade 4 shows a strongly increased echogenicity with complete loss of recognizable muscle architecture.
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 11 Apr 2025.
- Individual participant dataSharing planned: No
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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 LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) and Merosin Deficient CMD (Full or Partial), 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 11 Apr 2025. 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 David Gómez-Andrés (+34934893156, david.gomezandres@vallhebron.cat), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change in Motor function Measurement (MFM32) score (time frame: Change from baseline through study completion, an average of 5 years). The study lists 3 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 11 Apr 2025.