[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100587110":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":10,"centralContacts":50,"locations":56,"responsibleParty":75,"collaborators":77,"id":81,"slug":10,"hasResults":82,"nctId":83,"briefTitle":84,"officialTitle":84,"acronym":10,"eligibilityCriteria":85,"healthyVolunteers":82,"sex":86,"minAge":87,"maxAge":88,"enrollmentInfo":89,"targetDuration":92,"studyType":93,"phases":10,"briefSummary":94,"conditions":95,"keywords":101,"overallStatus":59,"whyStopped":10,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":111,"completionDateStruct":113,"leadSponsor":115,"locationsCount":116},{"fullName":5,"class":6},"Hospital Universitari Vall d'Hebron Research Institute","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"All patients",null,"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",[13,14,15,16,17,18,19],"Diagnostic Test: Motor function scales","Diagnostic Test: MUSCLE ULTRASOUND","Diagnostic Test: Muscle Elastography","Other: Complete physical examination","Other: Ventilatory\u002F respiratory and other support assessment","Other: Oromotor function and nutrition","Other: Motor Milestone Assessments",[21,26,30,34,38,42,46],{"type":22,"name":23,"description":24,"armGroupLabels":25,"otherNames":10},"DIAGNOSTIC_TEST","Motor function scales","Evaluation of patients motor function using motor scales (MFM32, CHOP)",[9],{"type":22,"name":27,"description":28,"armGroupLabels":29,"otherNames":10},"MUSCLE ULTRASOUND","Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).",[9],{"type":22,"name":31,"description":32,"armGroupLabels":33,"otherNames":10},"Muscle Elastography","Assess the mechanical properties of muscles, such as stiffness and elasticity.",[9],{"type":6,"name":35,"description":36,"armGroupLabels":37,"otherNames":10},"Complete physical examination","Complete physical evaluations including muscle power and goniometry measurements",[9],{"type":6,"name":39,"description":40,"armGroupLabels":41,"otherNames":10},"Ventilatory\u002F respiratory and other support assessment","Assessment of ventilatory, respiratory, and other support needs to evaluate the necessity of assistive devices",[9],{"type":6,"name":43,"description":44,"armGroupLabels":45,"otherNames":10},"Oromotor function and nutrition","Assessment of bulbar funcionality: feeding devices, nutritional status.",[9],{"type":6,"name":47,"description":48,"armGroupLabels":49,"otherNames":10},"Motor Milestone Assessments","Motor milestones age of acquisition and loss",[9],[51],{"name":52,"role":53,"phone":54,"phoneExt":10,"email":55},"David Gómez-Andrés","CONTACT","+34934893156","david.gomezandres@vallhebron.cat",[57],{"facility":58,"status":59,"city":60,"state":60,"zip":61,"country":62,"countryCode":63,"cosmosGeoPoint":64,"geoPoint":69,"contacts":70},"University Hospital Vall d'Hebron","RECRUITING","Barcelona","08035","Spain","ES",{"type":65,"coordinates":66},"Point",[67,68],2.15899,41.38879,{"lat":68,"lon":67},[71],{"name":72,"role":53,"phone":73,"phoneExt":10,"email":74},"Neurologia Pediatrica - HUVH","934893156","neurologia.pediatrica@vallhebron.cat",{"type":76,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[78],{"name":79,"class":80},"ASOCIACIÓN IMPÚLSATE PARA LA CURA DE LOS NIÑOS CON DÉFICIT DE MEROSINA","UNKNOWN","100587110",false,"NCT06924125","Spanish Natural History Study for LAMA2 Muscular Dystrophy","Inclusion Criteria:\n\n* 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\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)","ALL","0 Minutes","100 Years",{"count":90,"type":91},100,"ESTIMATED","5 Years","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.",[96,97,98,99,100],"LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)","Merosin Deficient CMD (Full or Partial)","Merosin Deficient Congenital Muscular Dystrophy","Muscular Dystrophies","Cohort Studies",[102,103,104,105,106],"Merosin","LAMA2","Laminin","Dystrophy","natural history","2025-04-05",{"date":109,"type":110},"2025-04-11","ACTUAL",{"date":112,"type":110},"2021-07-27",{"date":114,"type":91},"2030-07-01",{"name":5,"class":6},1]