Merosin Deficient Congenital Muscular DystrophyLAMA2NCT06354790
Natural History Study of Children With LAMA2-related Dystrophies
An observational study of Merosin Deficient Congenital Muscular Dystrophy, run by Institut de Myologie, France at 4 sites in France.
Trial summary
The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients. The aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future… Read more about this study
- Who is it for?
- Ages 2 to 15 years
- Conditions the study is for
- Merosin Deficient Congenital Muscular Dystrophy
- What is being tested?
- Motor evaluations, Cognitive assessment and Pulmonary function test
- Type of treatment
- Injection or infusion
- How many people
- 40 participants
- Where
- 4 sitesFrance
- Study dates
- 5 Dec 2024to 31 Dec 2028
- 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 2 to 15 years
- All sexes
- No healthy volunteers
- Child
Study population: 40 young patients aged between 2 and 15 years old (inclusive) at time of consent, with a confirmed LAMA2 diagnosis (muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene)
Who may be able to join
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
- Subject must be
- Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:
- Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or
- Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene
- Absence of another confirmed neurological genetic disease
Show all 9Show fewer
- Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study
- Willingness to comply with the study protocol, including all the mandatory study procedures and visits
- Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme
Who cannot join
- Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia to perform an MRI
- Acute medical illness or hospitalization within 30 days prior to informed consent
- Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study
- Other significant medical condition and/or overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD
- Pregnant or breastfeeding women
Trial locations and contacts
4 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Erwan GASNIER, PhD contact
France4 sites, 4 recruiting
- Not yet recruiting
Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré
Garches
Isabelle BOSSARD
Marta GOMEZ, MD
- Not yet recruiting
Service de MPR pédiatrique L'Escale - HCL
Lyon
Manel SAIDI
Carole VUILLEROT, MD
- Not yet recruiting
Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac
Montpellier
Léa THEVENET
Ulrike WALTHER-LOUVIER, MD
- Recruiting
Plateforme d'essais cliniques pédiatriques iMotion
Paris
Dominique DUCHENE
Andreea SEFERIAN, MD
About this study
Official title: A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies
The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.
The aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials.
Participants will be follow up during a two years period regarding exhaustive aspects of the pathology:
- Muscular function
- Respiratory function
- Cognitive phenotyping
- Quality of life
- Growth parameters
- Biomarkers
Read the detailed description
The international workshop on LAMA2-RD, held in 2019 in Maastricht, stressed the importance of the identification of LAMA2-RD patients and the natural history studies worldwide. Together with the recent progress in preclinical applications, the road to therapy is paved.
However, no effective treatment has currently received market approval. Given the phenotype variability in LAMA2-RD patients, even in very young ones, determining which outcome measure(s) could be the most appropriate to assess the efficacy of potential therapies, and which variables are prognostic of the disease course, is required. In consequence, it is clearly necessary to explore all the aspects of the pathology: physiological, clinical/motor, biological, aligning with current or future international studies though collaboration.
Unlike results obtained through a retrospective study, data from a prospective natural history will be less subject to bias and error. Control of the studied population will also lead to reduce the variability of the results. The different variables explored during this study aim to cover all aspects of the disease and appear to be relevant candidates as outcomes.
The aim of the study is to focus on the clinical phenotyping and to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials. One other objective is to validate the use of a large subset of outcome measures in LAMA2-RD. Adding an electrophysiological data will give more insight to the neuropathology of the disease and enlarge the scope of futures therapies.
An exploratory part will test if denaturation profiling of plasma from patients can be used to follow disease progression. Finally, serum and plasma samples from patients will also be stored for future studies focused on searching and validating novel biomarkers in LAMA2-RD.
- Being tested
- Motor evaluations, Cognitive assessment, Pulmonary function test, Cardiac evaluation, Quality of life
- Keywords
- LAMA2, Congenital Muscular Dystrophy, Natural history
- Medical subject headings
- Muscular dystrophy congenital, merosin negative
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Motor evaluationsOther
Evaluation of patients motor function using motor scales (MFM32, RULM), Timed functioned tests (6MWT, Rise from floor, 4SCT, 10mWT), dynamometric strength evaluation (grip, pinch, flexion/extension)
Cognitive assessmentOther
Patients cognitive evaluation (WPPSI-IV, WISC-V)
Pulmonary function testOther
Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)
Cardiac evaluationOther
Evaluation of patients' cardiac function (ECG, Echo-cardiography)
Quality of lifeOther
Evaluation of patients quality of life with questionnaires and PROM
Spine X RayOther
Evaluation of spinal deformities by X-ray
Muscular MRIOther
Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI
Biomarkers collection and analysisOther
Collection of blood and urinary sample for biomarkers research.
| Study group | Role | What they receive |
|---|---|---|
| All patients | Not described Receives: Other: Motor evaluations; Other: Cognitive assessment; Other: Pulmonary function test; Other: Cardiac evaluation; Other: Quality of life; Other: Spine X Ray; Other: Muscular MRI; Other: Biomarkers collection and analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change in Motor function Measurement (MFM32) score
Measured: Through study completion, an average of 2 years
Change in Motor Milestone Checklist
Acquisitions and losses of motor functions (ex: Head control, sitting, crawling, standing, walking, climbing stairs, jumping,running, hopping,...)
Measured: Through study completion, an average of 2 years
Change in Revised Upper Limb Module (RULM) score
Measured: Through study completion, an average of 2 years
Change in grip strength measured by dynamometer tool
Measured: Through study completion, an average of 2 years
Change in pinch strength measured by dynamometer tool
Measured: Through study completion, an average of 2 years
Change in arm flexion/extension strength measured by dynamometer tool
Measured: Through study completion, an average of 2 years
Change in 6 Minutes Walking Test
Measured: Through study completion, an average of 2 years
Change in 4 Stairs Climbing Test (4SCT)
Measured: Through study completion, an average of 2 years
Change in 10m Walking Test
Measured: Through study completion, an average of 2 years
Change in Rise from Floor Test
Measured: Through study completion, an average of 2 years
Change in patient's Forced Vital Capacity (FVC) results
Measured: Through study completion, an average of 2 years
Change in patient's Peak Cough Flow (PCF) results
Measured: Through study completion, an average of 2 years
Change in patient's Maximum Expiratory Pressure (MEP) results
Measured: Through study completion, an average of 2 years
Change in patient's Maximal Inspiratory Pressure (MIP) results
Measured: Through study completion, an average of 2 years
Change in patient's Sniff Nasal Inspiratory Pressure (SNIP) results
Measured: Through study completion, an average of 2 years
Change in patient's muscle fat replacement measured by Magnetic Nuclear Resonance
Measured: Through study completion, an average of 2 years
Change in patient's cross-sectional area of the residual muscle measured by MNR
Measured: Through study completion, an average of 2 years
Secondary outcomes (10)
Change in Wechsler Preschool and Primary Scale of Intelligence-IV (WPPSI-IV) results
Measured: Through study completion, an average of 2 years
Change in Wechsler Intelligence Scale for Children-V (WISC-V) results
Measured: Through study completion, an average of 2 years
Change in PedsQL questionnaire results
Measured: Through study completion, an average of 2 years
Change in CGI-S questionnaire results
Measured: Through study completion, an average of 2 years
Change in CGI-I questionnaire results
Measured: Through study completion, an average of 2 years
Change in Faces pain rating scale results
Measured: Through study completion, an average of 2 years
Change in Fatigue Severity Scale results
Measured: Through study completion, an average of 2 years
Change in ACTIVLIM questionnaire results
Measured: Through study completion, an average of 2 years
Change in Egen Klassifikation Scale Version 2 (EK2) results
Measured: Through study completion, an average of 2 years
Change in Caregiver burden questionnaire (LMDIS) results
LAMA2 Dystrophy Independence Scale
Measured: Through study completion, an average of 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Apr 2024
- Study start5 Dec 2024
- Primary completion31 Dec 2028 (estimated)
- Study completion31 Dec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Merosin Deficient Congenital Muscular DystrophyStudies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Institut de Myologie, France
- Sponsor type
- University, hospital or other
- Collaborators
- Association Française contre les Myopathies (AFM), Paris
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06354790
- Sponsor's protocol ID
- NatHis LAMA2
- Acronym
- LAMA2
- Status last verified
- Nov 2026
- First submitted
- 20 Mar 2024
- Last updated
- 3 Nov 2026
- 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 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies
- ClinicalTrials.gov ID
- NCT06354790
- Acronym / sponsor ID
- LAMA2 / NatHis LAMA2
- Keywords
- LAMA2, Congenital Muscular Dystrophy, Natural history
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Institut de Myologie, FranceUniversity, hospital or other
- Collaborators
- Association Française contre les Myopathies (AFM), Paris
- Study start
- 5 Dec 2024 (actual)
- Primary completion
- 31 Dec 2028 (estimated)
- Study completion
- 31 Dec 2028 (estimated)
- First posted
- 9 Apr 2024 (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 goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.
The aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials.
Participants will be follow up during a two years period regarding exhaustive aspects of the pathology:
- Muscular function
- Respiratory function
- Cognitive phenotyping
- Quality of life
- Growth parameters
- Biomarkers
Detailed description
The international workshop on LAMA2-RD, held in 2019 in Maastricht, stressed the importance of the identification of LAMA2-RD patients and the natural history studies worldwide. Together with the recent progress in preclinical applications, the road to therapy is paved.
However, no effective treatment has currently received market approval. Given the phenotype variability in LAMA2-RD patients, even in very young ones, determining which outcome measure(s) could be the most appropriate to assess the efficacy of potential therapies, and which variables are prognostic of the disease course, is required. In consequence, it is clearly necessary to explore all the aspects of the pathology: physiological, clinical/motor, biological, aligning with current or future international studies though collaboration.
Unlike results obtained through a retrospective study, data from a prospective natural history will be less subject to bias and error. Control of the studied population will also lead to reduce the variability of the results. The different variables explored during this study aim to cover all aspects of the disease and appear to be relevant candidates as outcomes.
The aim of the study is to focus on the clinical phenotyping and to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials. One other objective is to validate the use of a large subset of outcome measures in LAMA2-RD. Adding an electrophysiological data will give more insight to the neuropathology of the disease and enlarge the scope of futures therapies.
An exploratory part will test if denaturation profiling of plasma from patients can be used to follow disease progression. Finally, serum and plasma samples from patients will also be stored for future studies focused on searching and validating novel biomarkers in LAMA2-RD.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| All patients | – | Other: Motor evaluations, Other: Cognitive assessment, Other: Pulmonary function test, Other: Cardiac evaluation, Other: Quality of life, Other: Spine X Ray, Other: Muscular MRI, Other: Biomarkers collection and analysis |
Who may qualify
- Ages
- 2 to 15 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- 40 young patients aged between 2 and 15 years old (inclusive) at time of consent, with a confirmed LAMA2 diagnosis (muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene)
Key inclusion criteria (9 listed)
- Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
- Subject must be
- Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:
- Absence of another confirmed neurological genetic disease
- Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study
Key exclusion criteria (5 listed)
- Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia to perform an MRI
- Acute medical illness or hospitalization within 30 days prior to informed consent
- Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study
- Other significant medical condition and/or overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD
- Pregnant or breastfeeding women
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 evaluationsEvaluation of patients motor function using motor scales (MFM32, RULM), Timed functioned tests (6MWT, Rise from floor, 4SCT, 10mWT), dynamometric strength evaluation (grip, pinch, flexion/extension) | Other | All patients |
| Cognitive assessmentPatients cognitive evaluation (WPPSI-IV, WISC-V) | Other | All patients |
| Pulmonary function testEvaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP) | Other | All patients |
| Cardiac evaluationEvaluation of patients' cardiac function (ECG, Echo-cardiography) | Other | All patients |
| Quality of lifeEvaluation of patients quality of life with questionnaires and PROM | Other | All patients |
| Spine X RayEvaluation of spinal deformities by X-ray | Other | All patients |
| Muscular MRIEvaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI | Other | All patients |
| Biomarkers collection and analysisCollection of blood and urinary sample for biomarkers research. | Other | All patients |
Primary outcome
Change in Motor function Measurement (MFM32) score
Time frame: Through study completion, an average of 2 years
Change in Motor Milestone Checklist
Time frame: Through study completion, an average of 2 years
Acquisitions and losses of motor functions (ex: Head control, sitting, crawling, standing, walking, climbing stairs, jumping,running, hopping,...)
Change in Revised Upper Limb Module (RULM) score
Time frame: Through study completion, an average of 2 years
Change in grip strength measured by dynamometer tool
Time frame: Through study completion, an average of 2 years
Change in pinch strength measured by dynamometer tool
Time frame: Through study completion, an average of 2 years
Change in arm flexion/extension strength measured by dynamometer tool
Time frame: Through study completion, an average of 2 years
Change in 6 Minutes Walking Test
Time frame: Through study completion, an average of 2 years
Change in 4 Stairs Climbing Test (4SCT)
Time frame: Through study completion, an average of 2 years
Change in 10m Walking Test
Time frame: Through study completion, an average of 2 years
Change in Rise from Floor Test
Time frame: Through study completion, an average of 2 years
Change in patient's Forced Vital Capacity (FVC) results
Time frame: Through study completion, an average of 2 years
Change in patient's Peak Cough Flow (PCF) results
Time frame: Through study completion, an average of 2 years
Change in patient's Maximum Expiratory Pressure (MEP) results
Time frame: Through study completion, an average of 2 years
Change in patient's Maximal Inspiratory Pressure (MIP) results
Time frame: Through study completion, an average of 2 years
Change in patient's Sniff Nasal Inspiratory Pressure (SNIP) results
Time frame: Through study completion, an average of 2 years
Change in patient's muscle fat replacement measured by Magnetic Nuclear Resonance
Time frame: Through study completion, an average of 2 years
Change in patient's cross-sectional area of the residual muscle measured by MNR
Time frame: Through study completion, an average of 2 years
10 secondary outcomes
Change in Wechsler Preschool and Primary Scale of Intelligence-IV (WPPSI-IV) results
Time frame: Through study completion, an average of 2 years
Change in Wechsler Intelligence Scale for Children-V (WISC-V) results
Time frame: Through study completion, an average of 2 years
Change in PedsQL questionnaire results
Time frame: Through study completion, an average of 2 years
Change in CGI-S questionnaire results
Time frame: Through study completion, an average of 2 years
Change in CGI-I questionnaire results
Time frame: Through study completion, an average of 2 years
Change in Faces pain rating scale results
Time frame: Through study completion, an average of 2 years
Change in Fatigue Severity Scale results
Time frame: Through study completion, an average of 2 years
Change in ACTIVLIM questionnaire results
Time frame: Through study completion, an average of 2 years
Change in Egen Klassifikation Scale Version 2 (EK2) results
Time frame: Through study completion, an average of 2 years
Change in Caregiver burden questionnaire (LMDIS) results
Time frame: Through study completion, an average of 2 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 3 Nov 2026.
- 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.
Erwan GASNIER, PhD contact
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Merosin Deficient Congenital Muscular Dystrophy, run by Institut de Myologie, France at 4 sites in France.
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 9 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: looking for participants now, as of the sponsor's last update on 3 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in France. 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 Andreea SEFERIAN, Dr (+33 (0)1 71 73 80 50, a.seferian@institut-myologie.org), 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: Through study completion, an average of 2 years). The study lists 17 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 3 Nov 2026.