[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100543355":3},{"organization":4,"armGroups":7,"interventions":20,"overallOfficials":10,"centralContacts":53,"locations":61,"responsibleParty":120,"collaborators":122,"id":125,"slug":126,"hasResults":127,"nctId":128,"briefTitle":129,"officialTitle":130,"acronym":131,"eligibilityCriteria":132,"healthyVolunteers":127,"sex":133,"minAge":134,"maxAge":135,"enrollmentInfo":136,"targetDuration":10,"studyType":139,"phases":10,"briefSummary":140,"conditions":141,"keywords":143,"overallStatus":108,"whyStopped":10,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":150,"completionDateStruct":152,"leadSponsor":154,"locationsCount":155},{"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",[62,80,93,106],{"facility":63,"status":64,"city":65,"state":10,"zip":10,"country":66,"countryCode":67,"cosmosGeoPoint":68,"geoPoint":73,"contacts":74},"Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré","NOT_YET_RECRUITING","Garches","France","FR",{"type":69,"coordinates":70},"Point",[71,72],2.18232,48.84226,{"lat":72,"lon":71},[75,77],{"name":76,"role":56,"phone":10,"phoneExt":10,"email":10},"Isabelle BOSSARD",{"name":78,"role":79,"phone":10,"phoneExt":10,"email":10},"Marta GOMEZ, MD","PRINCIPAL_INVESTIGATOR",{"facility":81,"status":64,"city":82,"state":10,"zip":10,"country":66,"countryCode":67,"cosmosGeoPoint":83,"geoPoint":87,"contacts":88},"Service de MPR pédiatrique L'Escale - HCL","Lyon",{"type":69,"coordinates":84},[85,86],4.84789,45.74906,{"lat":86,"lon":85},[89,91],{"name":90,"role":56,"phone":10,"phoneExt":10,"email":10},"Manel SAIDI",{"name":92,"role":79,"phone":10,"phoneExt":10,"email":10},"Carole VUILLEROT, MD",{"facility":94,"status":64,"city":95,"state":10,"zip":10,"country":66,"countryCode":67,"cosmosGeoPoint":96,"geoPoint":100,"contacts":101},"Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac","Montpellier",{"type":69,"coordinates":97},[98,99],3.87635,43.61093,{"lat":99,"lon":98},[102,104],{"name":103,"role":56,"phone":10,"phoneExt":10,"email":10},"Léa THEVENET",{"name":105,"role":79,"phone":10,"phoneExt":10,"email":10},"Ulrike WALTHER-LOUVIER, MD",{"facility":107,"status":108,"city":109,"state":10,"zip":10,"country":66,"countryCode":67,"cosmosGeoPoint":110,"geoPoint":114,"contacts":115},"Plateforme d'essais cliniques pédiatriques iMotion","RECRUITING","Paris",{"type":69,"coordinates":111},[112,113],2.3488,48.85341,{"lat":113,"lon":112},[116,118],{"name":117,"role":56,"phone":10,"phoneExt":10,"email":10},"Dominique DUCHENE",{"name":119,"role":79,"phone":10,"phoneExt":10,"email":10},"Andreea SEFERIAN, MD",{"type":121,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR",[123],{"name":124,"class":6},"Association Française contre les Myopathies (AFM), Paris","100543355","natural-history-study-of-children-with-lama2-related-dystrophies-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":137,"type":138},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",[142],"Merosin Deficient Congenital Muscular Dystrophy",[131,144,145],"Congenital Muscular Dystrophy","Natural history","2024-12-09",{"date":148,"type":149},"2024-12-12","ACTUAL",{"date":151,"type":149},"2024-12-05",{"date":153,"type":138},"2027-12-31",{"name":5,"class":6},4]