An observational study in LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A), Merosin Deficient CMD (Full or Partial) and Merosin Deficient Congenital Muscular Dystrophy, sponsored by Hospital Universitari Vall d'Hebron Research Institute. Recruiting at 1 site in Spain. Open to participants aged 0 Minutes to 100 Years. Per ClinicalTrials.gov, last updated 2025-04-11.
Sponsored by Hospital Universitari Vall d'Hebron Research Institute · Observational
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.
550 studies on the registry are indexed under Muscular Dystrophies; 89 are open to participants now.
This study's planned enrollment of 100 is above the median of 73 across 181 observational studies indexed under Muscular Dystrophies.
Browse Muscular Dystrophies studies →Hospital Universitari Vall d'Hebron Research Institute is the lead sponsor of 275 studies on the registry; 63 are open to participants now.
Counted across the registry records on this site, refreshed daily.
All patients with compatible clinical presentation and genetical confirmation LAMA2-RD
Inclusion Criteria:
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
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
Evaluation of patients motor function using motor scales (MFM32, CHOP)
Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).
Assess the mechanical properties of muscles, such as stiffness and elasticity.
Complete physical evaluations including muscle power and goniometry measurements
Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices
Assessment of bulbar funcionality: feeding devices, nutritional status.
Motor milestones age of acquisition and loss
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.
Time frame: 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)
Time frame: 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.
Time frame: Change from baseline through study completion, an average of 5 years
Plan to share: No
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Hospital Universitari Vall d'Hebron Research Institute →