[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"myoclonus\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:myoclonus":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,50,100,132],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":11,"sex":15,"minAge":16,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":28,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":4,"leadSponsor":46,"locationsCount":49},"100060318","natural-history-of-glycosphingolipid-storage-disorders-and-glycoprotein-disorders-100060318",false,"NCT00029965","Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders","* INCLUSION CRITERIA:\n\nAny individual with GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis documented by enzyme deficiency or mutation analysis in a CLIA-approved laboratory will be eligible for the study.\n\nEXCLUSION CRITERIA:\n\nThere will be no exclusion based on race, gender, or ethnicity; however particular ethnic groups may be overrepresented due to the frequency of the diseases in a specific population (e.g., Ashkenazi Jews in infantile and adult GM2 and Roma \"travelers\" in juvenile GM1). The majority of juvenile subjects will have severely impaired decision-making and even informed assent in older children may not be possible. Children with Morquio B disease are not expected to be cognitively impaired. The children with Morquio B ages 7-11 years will be asked to give verbal assent and ages 12-17 years will be asked to give written assent to the protocol. Some subjects who have reached the age of 18 may need to have legally authorized representative (usually their parents) sign consent on their behalf.","ALL","1 Day","100 Years",{"count":19,"type":20},200,"ESTIMATED","OBSERVATIONAL","Study description:\n\nThis is a natural history study that will evaluate any patient with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Patients may be evaluated every 6 months for infantile onset disease, yearly for juvenile onset and approximately every two years for adult-onset disease as long as they are clinically stable to travel. Data will be evaluated serially for each patient, and cross-sectionally for patients of similar ages and genotypes. Genotype-phenotype correlations will be made where possible although these are rare disorders and the majority of the patients are compound heterozygotes.\n\nObjectives:\n\nTo study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient\u002Fparent surveys.\n\nTo develop sensitive tools for monitoring disease progression.\n\nTo identify biological markers in blood, cerebrospinal fluid, and urine that correlate with disease severity and progression and can be used as outcome measures for future clinical trials.\n\nTo further understand and characterize the mechanisms of neurodegeneration in GSL and GP storage disorders across the spectrum of disease beginning with ganglioside storage in fetal life.\n\nEndpoints:\n\nExploring the natural history of Lysosomal Storage Diseases and Glycoprotein Disorders\n\nStudy Population:\n\nPatients with enzyme or DNA confirmed GM1 or GM2 gangliosidosis, sialidosis or galactosialidosis. Accrual ceiling is 200 participants. No exclusions based on age, gender, demographic group, or demographic location. Patients included in our study are those that are seen at the NIH Clinical Center, subjects that have only sent in blood samples, as well as those who complete the questionnaire or provided head circumference measures.",[24,25,26,27],"Neurological Regression","Myoclonus","Cherry Red Spot","Brain Atrophy",[29,30,31,32,33,34,35,36,37,38],"Sialidosis","Lysosomal Storage","GM1 Gangliosidosis","GM2 Gangliosidosis","Natural History","Glycoprotein Disorders","Lysosomal Storage Disorder","Tay-Sachs","Sandhoff","Gaucher","RECRUITING","2026-06-30",{"date":42,"type":43},"2026-07-01","ACTUAL",{"date":45,"type":43},"2002-02-06",{"name":47,"class":48},"National Human Genome Research Institute (NHGRI)","NIH",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":54,"acronym":4,"eligibilityCriteria":55,"healthyVolunteers":11,"sex":15,"minAge":56,"maxAge":57,"enrollmentInfo":58,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":60,"conditions":61,"keywords":71,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":90,"lastUpdatePostDateStruct":91,"startDateStruct":93,"completionDateStruct":95,"leadSponsor":97,"locationsCount":49},"100561088","a-retrospective-survey-based-multicenter-study-to-delineate-the-molecular-and-phenotypic-spectrum-of-epilepsy-dyskinesia-syndromes-100561088","NCT06585605","A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes","Inclusion Criteria:\n\n* Children between 0 - 18 years of age with a movement disorder and a pathogenic or likely pathogenic variant in one of the genes of interest:\n\nAARS2 ALG13 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP1A3 CACNA1A CACNA1E CACNA2D2 CDKL5 CSTB DARS2 DLAT DLD DNM1 EARS2 EPG5 FARS2 FOXG1 FRRS1L GABRA1 GABRA2 GABRB2 GABRB3 GABRG2 GRIA2 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GNAO1 HARS2 HNRNPU IQSEC2 KCNA2 KCNB1 KCNC1 KCNMA1 KCNQ2 KCNQ3 KCNT1 LARS2 MECP2 MEF2C MTND5 MTTL1 MTTK NARS2 NHLRC1 PDE10A PDE2 PCDH12 PCDH19 PDK3 PIGP PIGQ PIGS PIGN POLG PDHA1 PDHB PDHX PRRT2 PURA RHOBTB2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC13A5 SLC1A2 SLC2A1 SLC25A22 SMCA1 SNP14 ST3GAL3 STXBP1 SPTAN1 SYNGAP1 TBC1D24 TBL1WL1 TARS2 UBA5 UBE3A VAMP2 VARS2 WARS2 WDOX WDR45 YIF1B YWHAG\n\nExclusion Criteria:\n\n* Not having such diagnosis and\u002For not presenting a movement disorder.","0 Years","18 Years",{"count":59,"type":20},500,"The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative\\'s goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.",[62,63,64,65,66,25,67,68,69,70],"Epilepsy in Children","Dyskinesias","Movement Disorders in Children","Neurologic Disorder","Chorea","Ataxia","Epilepsy","Dystonia Disorder","Movement Disorders",[72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89],"epilepsy-dyskinesia syndrome","movement disorders","epileptic encephalopathy","dyskinesia","dystonia","neurogenetics","PRRT2","ATP1A3","MECP2","CACNA1A","CDKL5","FOXG1","GNAO1","SCN1A","SCN8A","SLC2A1","STXBP1","UBA5","2026-03-16",{"date":92,"type":43},"2026-03-18",{"date":94,"type":43},"2024-07-01",{"date":96,"type":20},"2029-12-31",{"name":98,"class":99},"Boston Children's Hospital","OTHER",{"id":101,"slug":102,"hasResults":11,"nctId":103,"briefTitle":104,"officialTitle":104,"acronym":4,"eligibilityCriteria":105,"healthyVolunteers":106,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":107,"targetDuration":4,"studyType":109,"phases":110,"briefSummary":112,"conditions":113,"keywords":4,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":123,"lastUpdatePostDateStruct":124,"startDateStruct":126,"completionDateStruct":128,"leadSponsor":130,"locationsCount":49},"100463645","clinical-validation-of-dystonianet-deep-learning-platform-for-diagnosis-of-isolated-dystonia-100463645","NCT05317390","Clinical Validation of DystoniaNet Deep Learning Platform for Diagnosis of Isolated Dystonia","Inclusion criteria:\n\n1. Males and females of diverse racial and ethnic backgrounds, with age across the lifespan;\n2. Patients will have at least one of the forms of dystonia, including focal dystonia (e.g., laryngeal, cervical, oromandibular, blepharospasm, focal hand, musicians), segmental dystonia, or generalized dystonia;\n3. Patients will have other movement disorders (Parkinson's disease, essential tremor, dyskinesia, myoclonus) and other non-neurological conditions (tic disorders, torticollis, ulnar nerve entrapments, temporomandibular disorders, dysphonia) that mimic dystonic symptoms.\n\nExclusion criteria:\n\n1. Patients who are incapable of giving informed consent;\n2. Patients who are unable to undergo brain MRI due to the presence of certain tattoos and ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve) that cannot be removed or due to pregnancy or breastfeeding at the time of the study.",true,{"count":108,"type":20},1000,"INTERVENTIONAL",[111],"NA","This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.",[114,115,116,117,63,25,118,119,120,121,122],"Dystonia","Drug Induced Dystonia","Parkinson Disease","Essential Tremor","Tic Disorders","Torticollis","Ulnar Nerve Entrapment","Temporomandibular Joint Disorders","Dysphonia","2025-11-24",{"date":125,"type":43},"2025-12-02",{"date":127,"type":43},"2022-06-01",{"date":129,"type":20},"2028-04-30",{"name":131,"class":99},"Massachusetts Eye and Ear Infirmary",{"id":133,"slug":134,"hasResults":11,"nctId":135,"briefTitle":136,"officialTitle":136,"acronym":4,"eligibilityCriteria":137,"healthyVolunteers":11,"sex":15,"minAge":56,"maxAge":138,"enrollmentInfo":139,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":141,"conditions":142,"keywords":147,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":152,"startDateStruct":154,"completionDateStruct":156,"leadSponsor":158,"locationsCount":49},"100590462","registry-and-natural-history-of-epilepsy-dyskinesia-syndromes-100590462","NCT06967727","Registry and Natural History of Epilepsy-Dyskinesia Syndromes","Inclusion Criteria:\n\n* Having at least one pathogenic or likely pathogenic variant in one of the genes of interest:\n\nAARS2, ADCY5, ALG13, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, ARX, ATP1A3, CACNA1A, CACNA1E, CACNA2D2, CDKL5, CSTB, DARS2, DLAT, DLD, DNM1, EARS2, EPG5, EPM2A, FARS2, FOXG1, FRRS1L, GABRA1, GABRA2, GABRB2, GABRB3, GABRG2, GNAO1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, HARS2, HNRNPU, HTT, IQSEC2, IRF2BPL, KCNA2, KCNB1, KCNC1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LARS2, MECP2, MEF2C, MTND5, MTTK, MTTL1, NARS2, NHLRC1, PCDH12, PCDH19, PDE10A, PDE2, PDHA1, PDHB, PDHX, PDK3, PDP1, PIGA, PIGN, PIGP, PIGQ, PIGS, PLCB1, POLG, PRRT2, PURA, RHOBTB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SETBP1, SETD5, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SMC1A, SNX14, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TARS2, TBC1D24, UBA5, UBE3A, VAMP2, VARS2, WARS2, WDR45, WWOX, YIF1B, YWHAG, and other genes associated with epilepsy-dyskinesia syndromes.\n\nExclusion Criteria:\n\n* Not having a pathogenic or likely pathogenic variants in the genes of interest","30 Years",{"count":140,"type":20},700,"The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and\u002For skin\u002Ftissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.",[143,68,144,145,146,62,63,64,65,66,25,67,69,70],"Epilepsy-Dyskinesia","Dyskinesia","EDS","Epilepsy-Dyskinesia Syndomes",[148,143,149,144,73,74,77,78,79,84,80,81,82,83,85,86,87,88,89,150],"epilepsy","Epilepsy-Dyskinesia Syndrome","ADCY5","2025-08-15",{"date":153,"type":43},"2025-08-17",{"date":155,"type":43},"2025-06-01",{"date":157,"type":20},"2030-07",{"name":98,"class":99}]