[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"muscular-dystrophy-becker\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:muscular-dystrophy-becker":32},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,67,94],{"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":4,"briefSummary":23,"conditions":24,"keywords":40,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":59,"completionDateStruct":61,"leadSponsor":63,"locationsCount":66},"100527411","development-of-non-invasive-prenatal-diagnosis-for-single-gene-disorders-100527411",false,"NCT06147414","Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","DANNIgene","Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and\u002For maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection","FEMALE","18 Years",{"count":20,"type":21},550,"ESTIMATED","OBSERVATIONAL","Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.\n\nThe present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.",[25,26,27,28,29,30,31,32,33,34,35,36,37,38,39],"Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including","Sickle Cell Disease","Cystic Fibrosis","Fragile X Syndrome","Proximal Spinal Muscular Atrophy","Myotonic Dystrophy","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Neurofibromatosis-Noonan Syndrome","Huntington Disease","Hemophilia A","Hemophilia B","MODY2 Diabetes","X-Linked Hydrocephalus","Autosomal Recessive Polycystic Kidney Disease",[41,42,43,44,45,46,47,48,49,50,51,52,53],"Gene HBB","Gene CFTR","Gene FMR1","Gene SMN1","Gene DMPK","Gene DMD","Gene NF1","Gene HTT","Gene F8","Gene F9","Gene GCK","Gene L1CAM","Gene PKHD1","RECRUITING","2026-04-20",{"date":57,"type":58},"2026-04-23","ACTUAL",{"date":60,"type":58},"2024-10-23",{"date":62,"type":21},"2027-05",{"name":64,"class":65},"Assistance Publique - Hôpitaux de Paris","OTHER",1,{"id":68,"slug":69,"hasResults":11,"nctId":70,"briefTitle":71,"officialTitle":72,"acronym":73,"eligibilityCriteria":74,"healthyVolunteers":11,"sex":75,"minAge":76,"maxAge":18,"enrollmentInfo":77,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":79,"conditions":80,"keywords":83,"overallStatus":85,"whyStopped":4,"lastUpdateSubmitDate":86,"lastUpdatePostDateStruct":87,"startDateStruct":89,"completionDateStruct":90,"leadSponsor":92,"locationsCount":66},"100632302","a-multicenter-cohort-study-of-duchenne-and-becker-muscular-dystrophy-in-western-chinese-children-100632302","NCT07511920","A Multicenter Cohort Study of Duchenne and Becker Muscular Dystrophy in Western Chinese Children","A Real-World, Multicenter Cohort Study on the Natural History of Duchenne and Becker Muscular Dystrophy in Children From Western China","WEST-DBMD","Inclusion Criteria:\n\n* Male participants with genetically confirmed diagnosis of Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD)\n* Age range: 1 to 18 years old (adjust to your actual age limit)\n* Ability to complete study assessments and follow-up visits\n* Participants or legal guardians provide written informed consent\n\nExclusion Criteria:\n\n* Participants with other neuromuscular disorders that may confound natural history data\n* Participation in another interventional clinical trial that could affect disease progression\n* Severe comorbidities that prevent completion of study assessments\n* Inability to provide informed consent or comply with study procedures","MALE","1 Year",{"count":78,"type":21},500,"This is a prospective, multicenter, longitudinal observational cohort study aimed at understanding the progression of Duchenne Muscular Dystrophy (DMD). The primary objective is to identify and integrate key biomarkers from multiple sources-including motor function assessments, body composition (muscle and fat distribution), clinical laboratory tests, and cardiopulmonary imaging-to delineate comprehensive disease trajectories. By analyzing how these factors change over time in a large cohort, the study seeks to develop a robust model that can identify patterns of disease progression. The ultimate goal is to generate evidence that may aid in forecasting individual patient outcomes and inform the future development of personalized rehabilitation and therapeutic strategies.",[32,81,82,31],"Muscular Dystrophy","Muscular Dystrophy (DMD)",[84],"Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Natural History; Multicenter Cohort Study; China; Predictive Model","NOT_YET_RECRUITING","2026-03-30",{"date":88,"type":58},"2026-04-06",{"date":55,"type":21},{"date":91,"type":21},"2028-12-31",{"name":93,"class":65},"West China Second University Hospital",{"id":95,"slug":96,"hasResults":11,"nctId":97,"briefTitle":98,"officialTitle":98,"acronym":99,"eligibilityCriteria":100,"healthyVolunteers":11,"sex":101,"minAge":4,"maxAge":4,"enrollmentInfo":102,"targetDuration":4,"studyType":104,"phases":105,"briefSummary":107,"conditions":108,"keywords":4,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":112,"lastUpdatePostDateStruct":113,"startDateStruct":115,"completionDateStruct":117,"leadSponsor":119,"locationsCount":66},"100580145","transcriptomic-analysis-to-put-an-end-to-misdiagnosis-in-patients-with-rare-muscle-diseases-100580145","NCT06833489","Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases","ARNseq-Musc","Inclusion Criteria:\n\n* patients with rare genetic muscle diseases who have benefited from high-throughput sequencing analysis (panel of 200 genes defined by the FILNEMUS Rare Neuromuscular Disease Network) carried out at the Molecular Genetics Laboratory, Medical Genetics Department, Timone Enfant Hospital since 2017.\n\nThis criterion is necessary to limit the analysis to patients with muscular diseases among all the patients analysed by the Molecular Genetics Laboratory.\n\n* this genetic analysis did not identify pathogenic variants explaining the patient's phenotype This criterion is necessary in order to include only patients in diagnostic error.\n* a muscle biopsy of the patient is available in the Biological Resources Centre (CRB) at the AP-HM.\n\nExclusion Criteria:\n\n* Patients with no muscle biopsy available in the CRB.\n* Patients with an established molecular diagnosis.\n* Patients for whom RNA extraction from a muscle biopsy sample did not yield RNA of sufficient quality (INR \\>7) will be excluded from the study. A maximum of two extraction attempts will be performed.","ALL",{"count":103,"type":21},50,"INTERVENTIONAL",[106],"NA","Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases. The researchers hypothesise that some of these misdiagnosed patients carry pathogenic RNA (transcript) disrupting variants that were not identified by DNA sequencing. In fact, DNA sequencing analyses can be negative despite the presence of a pathogenic variant that disrupts RNA splicing or expression, causing a genetic disease. For this reason, RNA sequencing can provide a diagnosis in patients who have not been diagnosed by DNA sequencing, thus putting an end to diagnostic wandering. Thus, as a descriptive prevalence study, the objectives are first to determine the rate of positive diagnoses made by the RNAseq approach in patients with muscle diseases that have not yet been diagnosed, and then to identify the genomic characteristics of the pathogenic variants identified in patients by RNAseq analysis, in order to facilitate the identification of this type of variant in future patients.\n\n50 patients will be included in this study during 2 years.",[109,31,32,110,111],"Rare Genetic Muscle Diseases","Congenital Myopathy","Pompe Disease (Infantile-Onset)","2025-02-17",{"date":114,"type":58},"2025-02-18",{"date":116,"type":21},"2025-03-01",{"date":118,"type":21},"2027-03-01",{"name":120,"class":65},"Assistance Publique Hopitaux De Marseille"]