[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100543355":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":10,"centralContacts":53,"locations":61,"responsibleParty":119,"collaborators":121,"id":124,"slug":10,"hasResults":125,"nctId":126,"briefTitle":127,"officialTitle":128,"acronym":129,"eligibilityCriteria":130,"healthyVolunteers":125,"sex":131,"minAge":132,"maxAge":133,"enrollmentInfo":134,"targetDuration":10,"studyType":137,"phases":10,"briefSummary":138,"conditions":139,"keywords":141,"overallStatus":107,"whyStopped":10,"lastUpdateSubmitDate":144,"lastUpdatePostDateStruct":145,"startDateStruct":148,"completionDateStruct":150,"leadSponsor":152,"locationsCount":153},{"fullName":5,"class":6},"Institut de Myologie, France","OTHER",[8],{"label":9,"type":10,"description":10,"interventionNames":11},"All patients",null,[12,13,14,15,16,17,18,19],"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",[21,25,29,33,37,41,45,49],{"type":6,"name":22,"description":23,"armGroupLabels":24,"otherNames":10},"Motor evaluations","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\u002Fextension)",[9],{"type":6,"name":26,"description":27,"armGroupLabels":28,"otherNames":10},"Cognitive assessment","Patients cognitive evaluation (WPPSI-IV, WISC-V)",[9],{"type":6,"name":30,"description":31,"armGroupLabels":32,"otherNames":10},"Pulmonary function test","Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)",[9],{"type":6,"name":34,"description":35,"armGroupLabels":36,"otherNames":10},"Cardiac evaluation","Evaluation of patients' cardiac function (ECG, Echo-cardiography)",[9],{"type":6,"name":38,"description":39,"armGroupLabels":40,"otherNames":10},"Quality of life","Evaluation of patients quality of life with questionnaires and PROM",[9],{"type":6,"name":42,"description":43,"armGroupLabels":44,"otherNames":10},"Spine X Ray","Evaluation of spinal deformities by X-ray",[9],{"type":6,"name":46,"description":47,"armGroupLabels":48,"otherNames":10},"Muscular MRI","Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI",[9],{"type":6,"name":50,"description":51,"armGroupLabels":52,"otherNames":10},"Biomarkers collection and analysis","Collection of blood and urinary sample for biomarkers research.",[9],[54,59],{"name":55,"role":56,"phone":57,"phoneExt":10,"email":58},"Andreea SEFERIAN, Dr","CONTACT","+33 (0)1 71 73 80 50","a.seferian@institut-myologie.org",{"name":60,"role":56,"phone":10,"phoneExt":10,"email":10},"Erwan GASNIER, PhD",[62,79,92,105],{"facility":63,"status":64,"city":65,"state":10,"zip":10,"country":66,"cosmosGeoPoint":67,"geoPoint":72,"contacts":73},"Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré","NOT_YET_RECRUITING","Garches","France",{"type":68,"coordinates":69},"Point",[70,71],2.18232,48.84226,{"lat":71,"lon":70},[74,76],{"name":75,"role":56,"phone":10,"phoneExt":10,"email":10},"Isabelle BOSSARD",{"name":77,"role":78,"phone":10,"phoneExt":10,"email":10},"Marta GOMEZ, MD","PRINCIPAL_INVESTIGATOR",{"facility":80,"status":64,"city":81,"state":10,"zip":10,"country":66,"cosmosGeoPoint":82,"geoPoint":86,"contacts":87},"Service de MPR pédiatrique L'Escale - HCL","Lyon",{"type":68,"coordinates":83},[84,85],4.84789,45.74906,{"lat":85,"lon":84},[88,90],{"name":89,"role":56,"phone":10,"phoneExt":10,"email":10},"Manel SAIDI",{"name":91,"role":78,"phone":10,"phoneExt":10,"email":10},"Carole VUILLEROT, MD",{"facility":93,"status":64,"city":94,"state":10,"zip":10,"country":66,"cosmosGeoPoint":95,"geoPoint":99,"contacts":100},"Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac","Montpellier",{"type":68,"coordinates":96},[97,98],3.87635,43.61093,{"lat":98,"lon":97},[101,103],{"name":102,"role":56,"phone":10,"phoneExt":10,"email":10},"Léa THEVENET",{"name":104,"role":78,"phone":10,"phoneExt":10,"email":10},"Ulrike WALTHER-LOUVIER, MD",{"facility":106,"status":107,"city":108,"state":10,"zip":10,"country":66,"cosmosGeoPoint":109,"geoPoint":113,"contacts":114},"Plateforme d'essais cliniques pédiatriques iMotion","RECRUITING","Paris",{"type":68,"coordinates":110},[111,112],2.3488,48.85341,{"lat":112,"lon":111},[115,117],{"name":116,"role":56,"phone":10,"phoneExt":10,"email":10},"Dominique DUCHENE",{"name":118,"role":78,"phone":10,"phoneExt":10,"email":10},"Andreea SEFERIAN, MD",{"type":120,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[122],{"name":123,"class":6},"Association Française contre les Myopathies (AFM), Paris","100543355",false,"NCT06354790","Natural History Study of Children With LAMA2-related Dystrophies","A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies","LAMA2","Inclusion Criteria:\n\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)\n* Subject must be\n* Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:\n\n  * Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or\n  * Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene\n* Absence of another confirmed neurological genetic disease\n* Willingness to maintain current exercise and\u002For physical therapy regimen for the duration of the clinical study\n* Willingness to comply with the study protocol, including all the mandatory study procedures and visits\n* Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme\n\nExclusion Criteria:\n\n* Developmental quotient less than 70 and\u002For behavioral disorder requiring general anesthesia to perform an MRI\n* Acute medical illness or hospitalization within 30 days prior to informed consent\n* 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\n* Other significant medical condition and\u002For overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD\n* Pregnant or breastfeeding women","ALL","2 Years","15 Years",{"count":135,"type":136},40,"ESTIMATED","OBSERVATIONAL","The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.\n\nThe 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.\n\nParticipants will be follow up during a two years period regarding exhaustive aspects of the pathology:\n\n* Muscular function\n* Respiratory function\n* Cognitive phenotyping\n* Quality of life\n* Growth parameters\n* Biomarkers",[140],"Merosin Deficient Congenital Muscular Dystrophy",[129,142,143],"Congenital Muscular Dystrophy","Natural history","2024-12-09",{"date":146,"type":147},"2024-12-12","ACTUAL",{"date":149,"type":147},"2024-12-05",{"date":151,"type":136},"2027-12-31",{"name":5,"class":6},4]