An observational study in Merosin Deficient Congenital Muscular Dystrophy, sponsored by Institut de Myologie, France. Recruiting at 4 sites in France. Open to participants aged 2 Years to 15 Years. Per ClinicalTrials.gov, last updated 2026-11-03.
Sponsored by Institut de Myologie, France · Observational
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:
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.
Institut de Myologie, France is the lead sponsor of 30 studies on the registry; 5 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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)
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
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)
Patients cognitive evaluation (WPPSI-IV, WISC-V)
Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)
Evaluation of patients' cardiac function (ECG, Echo-cardiography)
Evaluation of patients quality of life with questionnaires and PROM
Evaluation of spinal deformities by X-ray
Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI
Collection of blood and urinary sample for biomarkers research.
Change in Motor function Measurement (MFM32) score
Time frame: 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,...)
Time frame: Through study completion, an average of 2 years
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
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
LAMA2 Dystrophy Independence Scale
Time frame: Through study completion, an average of 2 years
Plan to share: No
No publications or documents are linked to this record.
Started Dec 2024 (actual). Primary completion is estimated for Dec 2028, 48 months after the start.
Since we started tracking on Sep 25, 2026, the dates moved once, on Nov 3, 2026: primary completion Dec 2027 → Dec 2028 and completion Dec 2027 → Dec 2028.
Earlier changes are on the record history on ClinicalTrials.gov ↗
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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Muscular dystrophy congenital, merosin negative
Institut de Myologie, France