[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Pitié-Salpêtrière Hospital\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":44},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":26,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100290240","observatoire-des-patients-atteints-de-laminopathies-et-emerinopathies-observatory-for-patients-with-laminopathies-and-emerinopathies-100290240",false,"NCT03058185","Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)","OPALE","Inclusion Criteria:\n\n* Presence of a proven pathogenic LMNA and\u002For EMD gene mutation\n* Regular followup in France.\n* Signed informed consent\n\nExclusion Criteria:\n\n-Refusal to sign an informed consent.","ALL",{"count":18,"type":19},800,"ESTIMATED","10 Years","OBSERVATIONAL","Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes. Among them, disorders affecting skeletal and\u002For cardiac muscles are the most frequent clinical manifestations, with cardiac disease being a major cause of death. Remarkable progress has been made in the description of the clinical and genetic spectrum of these diseases since the 1990's. Until now, precise phenotype\u002Fgenotype relations remain elusive. As for several other neuromuscular disorders, apart from symptomatic treatments, there is currently no specific treatment to prevent or slow down the progression of the disease. The OPALE registry is a multicentre web-based registry dedicated to laminopathy and emerinopathy French patients. OPALE has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic LMNA and\u002For EMD gene mutation.\n\nThe OPALE objectives are to provide a tool allowing detailed capture of patient genetic, neurological, cardiological, endocrinological and respiratory assessments, in order to allow i) precise disease natural history, ii) evaluation of different disease complication frequency and iii) identification of prognosis factors.",[24,25],"Laminopathies","Emerinopathies",[27,28,29,30],"Lamin A\u002FC","LMNA","Emerin","EMD","RECRUITING","2025-03-10",{"date":34,"type":35},"2025-03-13","ACTUAL",{"date":37,"type":35},"2013-07-11",{"date":39,"type":19},"2033-07-11",{"name":41,"class":42},"Pitié-Salpêtrière Hospital","OTHER",28,""]