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Spanish Natural History Study for LAMA2 Muscular Dystrophy

Recruitingn/aAges 0 Minutes - 100 YearsAllHospital Universitari Vall d'Hebron Research Inst…
NCT06924125 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
Inclusion Criteria: * 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)
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What it tests

  • Motor function scales
  • MUSCLE ULTRASOUND
  • Muscle Elastography
  • Complete physical examination
  • Ventilatory/ respiratory and other support assessment
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Where

1 site
University Hospital Vall d'Hebron
Barcelona, Spain
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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