[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100630525":3},{"organization":4,"armGroups":7,"interventions":21,"overallOfficials":10,"centralContacts":56,"locations":62,"responsibleParty":80,"collaborators":10,"id":82,"slug":10,"hasResults":83,"nctId":84,"briefTitle":85,"officialTitle":85,"acronym":10,"eligibilityCriteria":86,"healthyVolunteers":83,"sex":87,"minAge":10,"maxAge":10,"enrollmentInfo":88,"targetDuration":91,"studyType":92,"phases":10,"briefSummary":93,"conditions":94,"keywords":111,"overallStatus":65,"whyStopped":10,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":118,"completionDateStruct":120,"leadSponsor":122,"locationsCount":123},{"fullName":5,"class":6},"Hospital Universitari Vall d'Hebron Research Institute","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"All patients",null,"Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy",[13,14,15,16,17,18,19,20],"Diagnostic Test: Muscle Ultrasound","Diagnostic Test: Motor function scales","Other: Complete physical examination","Other: Ventilatory\u002F respiratory, Cardiac and other support assessment","Other: QOL assessment, Neuropsychological","Device: Digital Biomarkers","Other: Oromotor function and nutrition","Other: Motor Milestone Assessments",[22,27,31,35,39,43,48,52],{"type":23,"name":24,"description":25,"armGroupLabels":26,"otherNames":10},"DIAGNOSTIC_TEST","Muscle Ultrasound","Ultrasound guided evaluation of 28 muscles evaluated accross different body regions, assessed using the Heckmatt gradinf system (semiquantitative scale).",[9],{"type":23,"name":28,"description":29,"armGroupLabels":30,"otherNames":10},"Motor function scales","Evaluation of patients motor function using motor scales (CHOP-INTEND, MFM32, HINE-2, NSAA, PDSM-3, RFF, 10m walk, PUL)",[9],{"type":6,"name":32,"description":33,"armGroupLabels":34,"otherNames":10},"Complete physical examination","Complete physical evaluations including muscle power and goniometry measurements",[9],{"type":6,"name":36,"description":37,"armGroupLabels":38,"otherNames":10},"Ventilatory\u002F respiratory, Cardiac and other support assessment","Assessment of ventilatory, cardiac, nutritional, and other support needs",[9],{"type":6,"name":40,"description":41,"armGroupLabels":42,"otherNames":10},"QOL assessment, Neuropsychological","Assessment of quality of life",[9],{"type":44,"name":45,"description":46,"armGroupLabels":47,"otherNames":10},"DEVICE","Digital Biomarkers","Video\u002Fphotos with the aim is to record actions such as lifting a glass, raising arms above the head, getting up from the floor or a chair, walking, or running, in order to later analyze in detail how these movements are performed.",[9],{"type":6,"name":49,"description":50,"armGroupLabels":51,"otherNames":10},"Oromotor function and nutrition","Assessment of bulbar funcionality: feeding devices, nutritional status.",[9],{"type":6,"name":53,"description":54,"armGroupLabels":55,"otherNames":10},"Motor Milestone Assessments","Motor milestones age of acquisition and loss (if applicable)",[9],[57],{"name":58,"role":59,"phone":60,"phoneExt":10,"email":61},"Laura Costa-Comellas, M.D.","CONTACT","+34677255332","laura.costacomellas@vallhebron.cat",[63],{"facility":64,"status":65,"city":66,"state":10,"zip":67,"country":68,"cosmosGeoPoint":69,"geoPoint":74,"contacts":75},"University Hospital Vall d'Hebron","RECRUITING","Barcelona","08035","Spain",{"type":70,"coordinates":71},"Point",[72,73],2.15899,41.38879,{"lat":73,"lon":72},[76],{"name":77,"role":59,"phone":78,"phoneExt":10,"email":79},"Neuromuscular Unit - Pediatric Neurology","934893156","neurologia.pediatrica@vallhebron.cat",{"type":81,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100630525",false,"NCT07488806","Natural History Study for Patients With Nemaline Myopathy in Spain","Inclusion Criteria:\n\n* Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.\n* Signed informed consent by the patient or Legal Authority Responsible, and\u002For assent by the subject (in pediatric population).","ALL",{"count":89,"type":90},100,"ESTIMATED","5 Years","OBSERVATIONAL","The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.",[95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110],"Nemaline Myopathy","Myopathies","Myopathic Conditions","NEB","ACTA1","TPM2","TPM3","TNNT1","CFL2","KBTBD13","KLHL40","KLHL41","LMOD3","Cohort Studies","MYPN","TNNT3",[112,113],"NATURAL HISTORY","NEMALINE MYOPATHY","2026-03-18",{"date":116,"type":117},"2026-03-23","ACTUAL",{"date":119,"type":90},"2026-06",{"date":121,"type":90},"2032-06",{"name":5,"class":6},1]