[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"dystonia-disorder\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:dystonia-disorder":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,43,92,119],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100637649","early-phase-1-impact-of-rtms-on-abnormal-cortical-fmri-in-patients-with-dystonia-100637649",false,"NCT07626216","Impact of rTMS on Abnormal Cortical fMRI in Patients With Dystonia","The Effect of Repetitive Trans-cranial Magnetic (rTMS) Stimulation on Abnormal Cortical Hubs Identified by Functional Magnetic Resonance in Subjects With Dystonia.","Inclusion Criteria:\n\n* Male or female\n* 18 and 80 years of age.\n* Patients who manifest dystonia - sustained involuntary movement of the head, neck, trunk or limbs.\n* The dystonia may be spontaneous or genetic, specifically DYT1 or DYT6 and then only those patients who are demonstrating dystonia. The patient\u002Fsubject will have a normal neurological exam except for dystonia.\n\nExclusion Criteria:\n\n* Heredodegenrative dystonia of the type DYT8,9 or 10.\n* Past history of head trauma, stroke, epilepsy, demyelinating disease\n* Hypertension in excess of 160mmHg systolic and 90mmHg diastolic\n* Congestive heart failure\n* Diabetes\n* Past psychiatric conditions: e.g., depression\n* Systemic metabolic disease: e.g., Wilson's disease, progressive neurodegenerative disease (like supranuclear palsy or corticobasal ganglionic degeneration)\n* Magnetizable incorporated metal parts - like pacemakers\n* History or diagnosis of Parkinson's disease\n* Presence of myoclonus\n* No previous surgery for dystonia\n* Long term exposure to benzodiazepines, neuroleptics or anticonvulsants\n* No botulinum toxin within 12 weeks of baseline assessment and fMRI.\n* Moderate to severe cognitive impairment (judged by a minimental status of \\\u003C24.)","ALL","18 Years","80 Years",{"count":20,"type":21},10,"ESTIMATED","INTERVENTIONAL",[24],"EARLY_PHASE1","By tracking resting-state fMRI scans, we aim to discover how repetitive transcranial magnetic stimulation (rTMS) changes brain connectivity in individuals with dystonia.",[27],"Dystonia Disorder",[29],"Transcranial Magnetic Stimulation, Heperkinetic Movement Disorder,Truncal (Axial) Dystonia, Abnormal Posture,Contractions of the chest, back,abdominal muscles","RECRUITING","2026-05-29",{"date":33,"type":34},"2026-06-04","ACTUAL",{"date":36,"type":34},"2026-03-04",{"date":38,"type":21},"2029-05",{"name":40,"class":41},"Northwell Health","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":17,"enrollmentInfo":50,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":53,"conditions":54,"keywords":64,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":42},"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",{"count":51,"type":21},500,"OBSERVATIONAL","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.",[55,56,57,58,59,60,61,62,27,63],"Epilepsy in Children","Dyskinesias","Movement Disorders in Children","Neurologic Disorder","Chorea","Myoclonus","Ataxia","Epilepsy","Movement Disorders",[65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82],"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":85,"type":34},"2026-03-18",{"date":87,"type":34},"2024-07-01",{"date":89,"type":21},"2029-12-31",{"name":91,"class":41},"Boston Children's Hospital",{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":96,"acronym":4,"eligibilityCriteria":97,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":98,"enrollmentInfo":99,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":101,"conditions":102,"keywords":107,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":111,"lastUpdatePostDateStruct":112,"startDateStruct":114,"completionDateStruct":116,"leadSponsor":118,"locationsCount":42},"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":100,"type":21},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.",[103,62,104,105,106,55,56,57,58,59,60,61,27,63],"Epilepsy-Dyskinesia","Dyskinesia","EDS","Epilepsy-Dyskinesia Syndomes",[108,103,109,104,66,67,70,71,72,77,73,74,75,76,78,79,80,81,82,110],"epilepsy","Epilepsy-Dyskinesia Syndrome","ADCY5","2025-08-15",{"date":113,"type":34},"2025-08-17",{"date":115,"type":34},"2025-06-01",{"date":117,"type":21},"2030-07",{"name":91,"class":41},{"id":120,"slug":121,"hasResults":11,"nctId":122,"briefTitle":123,"officialTitle":124,"acronym":4,"eligibilityCriteria":125,"healthyVolunteers":126,"sex":16,"minAge":127,"maxAge":4,"enrollmentInfo":128,"targetDuration":4,"studyType":52,"phases":4,"briefSummary":130,"conditions":131,"keywords":153,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":158,"lastUpdatePostDateStruct":159,"startDateStruct":161,"completionDateStruct":163,"leadSponsor":165,"locationsCount":42},"100318611","dystonia-genotype-phenotype-correlation-100318611","NCT03428009","Dystonia Genotype-Phenotype Correlation","Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes","General Exclusion (both Dystonia and Control groups):\n\n* Metal in any part of the body (including metal injury to the eye) OR carrying a medical device incompatible with MRI (e.g., metal implants such as surgical clips or pacemakers) OR positive screening per UTSW MRI screening form\n* Claustrophobia\n* Non-fluent English\n* Weight incompatible with MRI safety\n* History of head trauma with neurological sequelae, including multiple concussions and\u002For history of stroke\n* Pregnancy\n* Serious medical illness or history of serious medical illness, including cancer that was treated with radiation or chemotherapy, heart attack, or a known history of HIV-1 + status\n* Subjects with Hepatitis C (by Hepatitis C+ titer)\n* Subjects with insulin dependent diabetes mellitus (IDDM)\n* Severe respiratory compromise\n* In the opinion of the investigator, not able to safely participate in this study\n\nInclusion Criteria:\n\n* Dystonia group\n\nPrevious diagnosis of dystonia which include but is not limited to:\n\n* cervical dystonia (50 subjects)\n* blepharospasm (25 subjects)\n* limb dystonia (50 subjects)\n* spasmodic dysphonia (25 subjects)\n* segmental dystonia\n* multi-focal dystonia\n* Any childhood-onset dystonia (25 subjects) Age \\> 11 years\n\n  * Control group:\n\nNo prior dystonia diagnosis (175 subjects) Age \\> 11 years\n\nExclusion Criteria:\n\n* Dystonia group Prior history of or concurrent neurological or psychiatric diagnosis - depression and\u002For anxiety accepted Current use of non-dystonia neuroactive medications - SSRI\u002Fmedication for depression and\u002For anxiety accepted Current use of cervical brace designed for dystonia treatment Prior structural brain injury\n\nControl group:\n\nHistory of or current neurological or psychiatric diagnosis - depression and\u002For anxiety accepted, but must not be in active phase Current use of any neuroactive medication, SSRI\u002Fmedication for depression and\u002For anxiety accepted",true,"11 Years",{"count":129,"type":21},200,"The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.",[132,133,134,135,136,27,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152],"Dystonia","Dystonia; Idiopathic","Dystonia, Primary","Dystonia, Secondary","Dystonia, Familial","Dystonias, Sporadic","Dystonia; Orofacial","Dystonia Lenticularis","Dystonia, Paroxysmal","Dystonia 6","Dystonia 5","Dystonia 8","Dystonia 9","Dystonia 19","Dystonia 10","Dystonia 11","Dystonia 20","Dystonia 12","Dystonia, Focal","Dystonia of Head","Dystonia, Diurnal",[132,154,155,156,157],"Control","Magnetic Resonance Imagine","Genotype","Phenotype","2025-06-03",{"date":160,"type":34},"2025-06-06",{"date":162,"type":34},"2018-03-01",{"date":164,"type":21},"2027-09",{"name":166,"class":41},"University of Texas Southwestern Medical Center"]