[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"laminopathies\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:laminopathies":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,49,78],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":31,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":37,"lastUpdatePostDateStruct":38,"startDateStruct":41,"completionDateStruct":43,"leadSponsor":45,"locationsCount":48},"100469568","modifying-factors-in-striated-muscle-laminopathies-100469568",false,"NCT05394506","Modifying Factors in Striated Muscle Laminopathies","Identification of Genetic Modifying Factors in Striated Muscle Laminopathies","LMNAModifier","Inclusion Criteria:\n\n* Patient with an LMNA mutation that has led to the diagnosis of laminopathy affecting striated muscle\n* Presenting the symptoms of the disease, whether they are index cases or related to this index case (muscle weakness, tendon retractions with or without respiratory or cardiac involvement)\n* Have no contraindication to muscle or skin biopsy, i.e., 1) presence of a history of allergy to latex, antiseptics, local anesthetics and adhesive dressings, 2) Current oral or parenteral anticoagulant therapy (anti-vitamin K, heparins, anti-platelet agents, anti-factor X, anti-thrombin), 3) History of inherited (haemophilias, platelet diseases) or acquired (vitamin K deficiency, liver failure) coagulation disorders.\n* Patients (adult participant) or both holders of parental authority (minor participant) must sign a free and informed consent. If a minor has only 1 legal representative, the latter must attest to this on the consent form.\n* Patients affiliated to the general French social security system, to the French Universal Medical Coverage (CMU) or to any French equivalent scheme.\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding women\n* Adult subject to legal protection measures (safeguard of justice, curatorship and guardianship).","ALL","2 Years",{"count":20,"type":21},40,"ESTIMATED","INTERVENTIONAL",[24],"NA","Mutations in the LMNA gene, which codes for lamins A and C, proteins of the nuclear lamina, are responsible for a wide spectrum of pathologies, including a group specifically affecting striated skeletal and cardiac muscles, with cardiac involvement being life-threatening. At the skeletal muscle level, a wide phenotypic spectrum has been described, ranging from severe forms of congenital muscular dystrophy to less severe forms of limb-girdle muscular dystrophy. The great clinical variability of striated muscle laminopathies, both inter- and intra-familial, can be observed in the age of onset, severity of signs and progression of muscle and heart involvement. To date, more than 400 LMNA mutations have been associated with striated muscle laminopathies (www.umd.be\u002FLMNA\u002F), highlighting strong clinical and genetic heterogeneity. A few recurrent mutations linked to a difference in severity have been identified. However, these genotype-phenotype relationships and the rare cases of digenism reported do not explain all the clinical variability of laminopathies. Therefore, there are probably other factors of severity than the causative mutation, called \"modifier genes\".\n\nIdentification of such modifier genes has been initiated by studying a large family with significant clinical variability in the age of onset of muscle signs. A segregation analysis within this family identified 2 potential modifier loci. High-throughput sequencing restricted to these 2 regions according to phenotypic subgroups did not led to meaningful results so far. In addition, an international retrospective study of the natural history of early muscle laminopathies has allowed the investigators to highlight a strong inter-family clinical variability in patients carrying recurrent mutations. The investigators thus have strong preliminary data that could allow them to identify modifying genetic factors in a cohort of patients carrying a mutation in the LMNA gene.\n\nIn order to identify these factors that modulate the clinical severity of laminopathies, the investigators wish to collect biological material (muscle and\u002For skin biopsies) from patients carrying a mutation in the LMNA gene. The study of this biological material using multi OMICs technics will allow the investigators to identify and functionally validate the action of these modifying genes.\n\nOMIICs is a set of techniques for characterising biological molecules using high-throughput approaches such as DNA sequencing, RNA sequencing and\u002For chromatin conformation (ATACseq...), proteins.",[27,28,29,30],"Laminopathies","Emery Dreifuss Muscular Dystrophy 2","LMNA-Related Congenital Muscular Dystrophy","Dilated Cardiomyopathy-1A",[32,33,34,35],"A-type lamins","LMNA","muscular dystrophy","modifier factor","RECRUITING","2026-03-03",{"date":39,"type":40},"2026-03-04","ACTUAL",{"date":42,"type":40},"2022-09-08",{"date":44,"type":21},"2027-12-30",{"name":46,"class":47},"Institut National de la Santé Et de la Recherche Médicale, France","OTHER_GOV",8,{"id":50,"slug":51,"hasResults":11,"nctId":52,"briefTitle":53,"officialTitle":53,"acronym":54,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":56,"targetDuration":58,"studyType":59,"phases":4,"briefSummary":60,"conditions":61,"keywords":63,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":67,"lastUpdatePostDateStruct":68,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":77},"100290240","observatoire-des-patients-atteints-de-laminopathies-et-emerinopathies-observatory-for-patients-with-laminopathies-and-emerinopathies-100290240","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.",{"count":57,"type":21},800,"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.",[27,62],"Emerinopathies",[64,33,65,66],"Lamin A\u002FC","Emerin","EMD","2025-03-10",{"date":69,"type":40},"2025-03-13",{"date":71,"type":40},"2013-07-11",{"date":73,"type":21},"2033-07-11",{"name":75,"class":76},"Pitié-Salpêtrière Hospital","OTHER",28,{"id":79,"slug":80,"hasResults":11,"nctId":81,"briefTitle":82,"officialTitle":83,"acronym":84,"eligibilityCriteria":85,"healthyVolunteers":11,"sex":17,"minAge":86,"maxAge":4,"enrollmentInfo":87,"targetDuration":4,"studyType":59,"phases":4,"briefSummary":89,"conditions":90,"keywords":107,"overallStatus":36,"whyStopped":4,"lastUpdateSubmitDate":117,"lastUpdatePostDateStruct":118,"startDateStruct":120,"completionDateStruct":122,"leadSponsor":124,"locationsCount":5},"100578603","characterization-of-patients-with-cardiomyopathy-to-identify-critical-patients-candidates-for-cardiac-transplantation-100578603","NCT06813443","Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation","Clinical, Instrumental, and Molecular (Circulating and Tissue microRNAs) Characterization of Patients With Cardiomyopathy to Identify Critical Patients With Severe Organ Failure to be Candidates for Cardiac Transplantation","CMPMIRNA","Inclusion Criteria:\n\n* Patients diagnosed with CMP according to current international guidelines\n* Age ≥ 12 years at the time of diagnosis\n* Obtaining informed consent from the patient and the parent or legal guardian (in the case of patients aged \\\u003C 18 years)\n\nExclusion Criteria:\n\n* none","12 Years",{"count":88,"type":21},700,"The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging techniques that may provide insights into the underlying disease mechanisms. By understanding these markers, the investigators hope to improve the way the investigators diagnose and manage CMP, particularly in terms of predicting progression to heart failure or heart transplantation.\n\nThe study will evaluate patients with hypertrophic cardiomyopathy (e.g., sarcomeric forms, Anderson-Fabry disease, AL, and TTR cardiac amyloidosis), dilated cardiomyopathy and arrhythmogenic cardiomyopathy. These patients will undergo clinical evaluations, including ECG, echocardiograms, CMR, biopsy analysis, and genetic testing, as well as molecular studies such as transcriptomics and miRNA analysis. This comprehensive approach aims to identify potential new biomarkers for diagnosing and predicting the disease course.",[91,92,93,94,95,27,96,97,98,99,100,101,102,103,104,105,106],"Cardiomyopathies","Amyloidosis Cardiac","Fabry Disease","Arrhythmogenic Cardiomyopathy","Hypertrophic Cardiomyopathy (HCM)","Dystrophia Myotonica","Mitochondrial Cardiomyopathy","Dilated Cardiomyopathy","Sudden Cardiac Death","Heart Transplantation","Glycogen Storage Disease","Infiltrative Cardiomyopathy","Cardiac Magnetic Resonance Imaging","Electrocardiogram","Micro RNA","Echocardiogram",[108,109,110,111,112,113,114,115,116],"cardiomyopathy","cardiac amyloidosis","Fabry disease","hypertrophic cardiomyopathy","dilated cardiomyopathy","sudden cardiac death","arrhythmogenic cardiomyopathy","heart failure","heart transplantation","2025-02-03",{"date":119,"type":40},"2025-02-07",{"date":121,"type":40},"2023-02-13",{"date":123,"type":21},"2027-12-14",{"name":125,"class":76},"IRCCS Azienda Ospedaliero-Universitaria di Bologna"]