[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"ataxia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:ataxia":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,12,0,[8,50,79,127,158,185,207,234,264,294,325,353],{"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":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100353441","balance-rehabilitation-with-modified-visual-input-in-patients-with-neuropathy-100353441",false,"NCT03881930","Balance Rehabilitation With Modified Visual Input in Patients With Neuropathy","Balance REhabilitation With Modified Visual Input in Patients With acQuired Chronic Demyelinating Neuropathy and PROprioceptive Disorders","REQ-PRO","Inclusion Criteria:\n\n* Patients with chronic demyelinating acquired neuropathy\n* Age ≥ 18 years.\n* Patients able to walk 20 meters without human assistance at least indoors with or without technical assistance.\n* Patients with complaints such as discomfort, walking instability related to sensitivity disorders.\n* Patients being clinically stable for at least 2 months, regardless of ongoing treatments.\n* Patients who have provided consent.\n\nExclusion Criteria:\n\n* Patients unable to walk 20 metres without technical and human assistance indoors.\n* Patients with an ongoing hospitalization.\n* Patients already included and participating in another intervention study.\n* Patients with ongoing balance rehabilitation and continued during the REQ-PRO program in another rehabilitation centre or practice.\n* Patients with ongoing acute treatment (related to polyneuropathy) started less than 2 months ago or stopped less than 2 months ago.\n* Patients with scheduled surgery during the period of the patient's participation in the protocol, preventing the successful completion of the rehabilitation program and participation in assessments.\n* Patients with recent surgery, in particular lower limb prosthesis (less than 1 year old) or equipment contraindicated for planned exercises such as standing kneeling positions.\n* Patients with skin wounds on the foot that contraindicate rehabilitation.\n* Patients with balance disorders of vestibular origin or central neurological pathology.\n* Patients with a visual disability.\n* Patients with a hearing impairment that prevents the patient from hearing and understanding instructions during the rehabilitation program or assessments.\n* Patients with an inability to speak or understand the French language.\n* Patients with cognitive or language impairments that prevent understanding of the protocol.\n* Patients with a residence outside of the Paris Region (Ile de France).\n* Patients with a known pregnancy.\n* Patients not affiliated to a social security system (beneficiary or having a right), deprived of their right, under guardianship, curatorship, prisoner.","ALL","18 Years",{"count":20,"type":21},40,"ESTIMATED","INTERVENTIONAL",[24],"NA","This research focuses on the effects of rehabilitation on balance, in patients with acquired chronic demyelinating neuropathy. Rehabilitation will be performed with or without vision.\n\nIt is planned to include 40 subjects consulting for walking instability related to sensitivity disorders.\n\nThis multicenter study will take place in Paris's area. Each participant will benefit from 20 rehabilitation sessions with a Physical Therapist and 3 assessments.\n\nThanks to randomization, patient will be allocated in one of the 2 following groups:\n\n* Control group, Patients will benefit from balance rehabilitation with open eyes.\n* Experimental group, they will perform the same exercises while keeping their eyes closed or their vision will be obstructed by a mask or disturbed by moving luminous dots projected on the environment in darkness.",[27,28,29,30],"Neuropathy","Ataxia","Proprioceptive Disorders","Balance; Distorted",[32,33,29,34,35,36],"Peripheral neuropathy","Balance","Visual dependence","Rehabilitation","Physical Therapy","RECRUITING","2026-05-26",{"date":40,"type":41},"2026-05-27","ACTUAL",{"date":43,"type":41},"2019-10-01",{"date":45,"type":21},"2027-11-01",{"name":47,"class":48},"Assistance Publique - Hôpitaux de Paris","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":57,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":58,"targetDuration":60,"studyType":61,"phases":4,"briefSummary":62,"conditions":63,"keywords":64,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":69,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":78},"100452922","rfc1-natural-history-study-100452922","NCT05177809","RFC1 Natural History Study","RFC1-NHS","Inclusion Criteria:\n\n* RFC1: genetic diagnosis of bi-allelic pathogenic repeat expansions in RFC1\n* Unrelated healthy controls: no signs or history of neurological or psychiatric disease AND\n* Written informed consent AND\n* Participants are willing and able to comply with study procedures\n\nExclusion Criteria:\n\n* RFC1: Missing informed consent\n* Controls: evidence of neuropathy, neurodegenerative disease, or movement disorder; inability to give informed consent",true,{"count":59,"type":21},150,"24 Months","OBSERVATIONAL","This international, multi-center, multi-modal and prospective observational study aims to determine the phenotypic spectrum and the natural progression of the RFC1 repeat expansion disease, and to seek and validate digital, imaging, and molecular biomarkers that aid in diagnosis and serve as outcome measures in future clinical trials of this novel, but frequent ataxia with late adult-onset.",[28],[65,66,67,68],"RFC1","CANVAS","Natural History Study","Biomarker","2026-03-30",{"date":71,"type":41},"2026-03-31",{"date":73,"type":41},"2021-12-14",{"date":75,"type":21},"2026-12",{"name":77,"class":48},"Prof. Dr. Matthis Synofzik",10,{"id":80,"slug":81,"hasResults":11,"nctId":82,"briefTitle":83,"officialTitle":83,"acronym":4,"eligibilityCriteria":84,"healthyVolunteers":11,"sex":17,"minAge":85,"maxAge":18,"enrollmentInfo":86,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":88,"conditions":89,"keywords":99,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"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",{"count":87,"type":21},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.",[90,91,92,93,94,95,28,96,97,98],"Epilepsy in Children","Dyskinesias","Movement Disorders in Children","Neurologic Disorder","Chorea","Myoclonus","Epilepsy","Dystonia Disorder","Movement Disorders",[100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117],"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":120,"type":41},"2026-03-18",{"date":122,"type":41},"2024-07-01",{"date":124,"type":21},"2029-12-31",{"name":126,"class":48},"Boston Children's Hospital",{"id":128,"slug":129,"hasResults":11,"nctId":130,"briefTitle":131,"officialTitle":132,"acronym":133,"eligibilityCriteria":134,"healthyVolunteers":11,"sex":17,"minAge":135,"maxAge":136,"enrollmentInfo":137,"targetDuration":4,"studyType":22,"phases":139,"briefSummary":140,"conditions":141,"keywords":142,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":149,"lastUpdatePostDateStruct":150,"startDateStruct":152,"completionDateStruct":154,"leadSponsor":156,"locationsCount":49},"100548382","effects-of-cerebellar-tacs-itbs-in-ataxia-100548382","NCT06420271","Effects of Cerebellar tACS-iTBS in Ataxia","Effects of Combined Transcranial Electrical and Magnetic Stimulation of Cerebellum on Balance Function in Ataxia Patients","EtABeta","Inclusion Criteria:\n\n1. Confirmed diagnosis of ataxia based on clinical assessment and\u002For neuroimaging findings.\n2. Stable medication regimen for at least four weeks prior to the study.\n3. Sufficient cognitive ability to understand and comply with study instructions.\n\nExclusion Criteria:\n\n1. History of seizures.\n2. Severe general impairment or concomitant diseases.\n3. Intracranial metal implants.\n4. Cardiac pacemaker.\n5. Pregnancy status.","8 Years","80 Years",{"count":138,"type":21},30,[24],"Ataxia refers to a group of neurological disorders characterized by impaired coordination and balance due to dysfunction in the cerebellum or its connections. Traditional therapeutic approaches for ataxia have shown limited efficacy, prompting researchers to explore alternative interventions. Non-invasive brain stimulation (NIBS) techniques, such as transcranial magnetic stimulation (TMS), transcranial direct current stimulation (tDCS), transcranial alternating current stimulation (tACS), and intermittent theta burst stimulation (iTBS), have emerged as potential therapeutic options. The aim of this study is to investigate the combined effect of tACS-iTBS on balance functions in ataxia disorders.",[28],[143,144,145,146,147,148],"Non Invasive Brain Stimulation","Transcranial Magnetic Stimulation","Intermittent Theta Burst Stimulation","Transcranial Electrical Stimulation","Transcranial Alternating Current Stimulation","Exergaming","2026-02-12",{"date":151,"type":41},"2026-02-17",{"date":153,"type":41},"2025-05-01",{"date":155,"type":21},"2026-12-31",{"name":157,"class":48},"I.R.C.C.S. Fondazione Santa Lucia",{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":162,"acronym":4,"eligibilityCriteria":163,"healthyVolunteers":11,"sex":17,"minAge":85,"maxAge":4,"enrollmentInfo":164,"targetDuration":166,"studyType":61,"phases":4,"briefSummary":167,"conditions":168,"keywords":174,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":176,"lastUpdatePostDateStruct":177,"startDateStruct":179,"completionDateStruct":181,"leadSponsor":183,"locationsCount":49},"100273617","wolfram-syndrome-and-wfs1-related-disorders-international-registry-and-clinical-study-100273617","NCT02841553","Wolfram Syndrome and WFS1-related Disorders International Registry and Clinical Study","Any patient worldwide with a diagnosis of Wolfram syndrome and with access to the Internet can be enrolled in the Registry. Since the disease usually manifests in the first decade of life and tends to have an inevitably progressive course, participation of minors is important for establishing the natural course of the disease.\n\nInclusion Criteria:\n\nMajor Criteria\n\n* Diabetes mellitus \\\u003C16 yrs\n* Optic atrophy \\\u003C16 yrs\n\nMinor Criteria\n\n* Diabetes insipidus\n* Diabetes mellitus \\>16yrs\n* Optic atrophy \\>16 yrs\n* Sensorineural deafness\n* Neurological signs (ataxia, epilepsy, cognitive impairment)\n* Renal tract abnormalities (structural or functional)\n* 1 loss of function mutation in WFS1\u002FCISD2 AND\u002FOR family history of Wolfram syndrome\n\nMinimum Required\n\n* 2 major OR\n* 1 major plus 2 minor criteria OR\n* 2 pathological WFS1 or CISD2 mutations are identified\n\nOther variable suggestive evidence\n\n* Hypogonadism (males)\n* An absence of type 1 diabetes auto-antibodies\n* Bilateral cataracts\n* Psychiatric disorder\n* Gastrointestinal\n\nExclusion Criteria:\n\nInability of a patient and\u002For a guardian to obtain help with translation and thus, inability to understand questionnaire.\n\nParent, Sibs, and Spouses:\n\n\\- Parents, sibs, and spouses that are unaffected will be recruited as controls. Inclusion criterion is having the unaffected status and exclusion criterion is if the person cannot understand the Informed Consent Document.",{"count":165,"type":21},5000,"20 Years","In this study, the investigators hypothesize that studying monogenic variants with strong effect associated with severe insulin deficiency of Wolfram syndrome will provide important insights into the more complex type 1 and type 2 diabetes mellitus.\n\nAim 1. Establish and maintain a registry of patients with Wolfram syndrome. An Internet based registry will be employed to enroll participants with the clinical diagnosis of Wolfram syndrome (insulin dependent DM and bilateral OA). Clinical information regarding age of diagnosis and progression of the disease will be collated and analyzed to better define its natural history, along with potential metabolic phenotypes such as glucose intolerance of heterozygous parents and unaffected sibs.\n\nIf not already completed, blood for WFS1 sequence analysis will be obtained on the participants (parents and sibs also for control purposes) and sent to a CLIA certified lab to define the mutation. This information will benefit patient families and referring physicians by providing a genetic diagnosis and where indicated. The Wolfram Syndrome Registry will foster international collaborations to more efficiently and systematically collect Wolfram syndrome patients and their clinical and experimental data.",[169,170,171,172,173,28],"Wolfram Syndrome","Diabetes Mellitus","Optic Nerve Atrophy","Deafness","Diabetes Insipidus",[175],"Endoplasmic Reticulum Stress","2025-12-19",{"date":178,"type":41},"2025-12-23",{"date":180,"type":4},"2011-07",{"date":182,"type":21},"2027-04",{"name":184,"class":48},"Washington University School of Medicine",{"id":186,"slug":187,"hasResults":11,"nctId":188,"briefTitle":189,"officialTitle":189,"acronym":4,"eligibilityCriteria":190,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":191,"enrollmentInfo":192,"targetDuration":4,"studyType":22,"phases":194,"briefSummary":195,"conditions":196,"keywords":4,"overallStatus":197,"whyStopped":4,"lastUpdateSubmitDate":198,"lastUpdatePostDateStruct":199,"startDateStruct":201,"completionDateStruct":203,"leadSponsor":205,"locationsCount":49},"100615704","can-acute-photobiomodulation-improve-balance-and-cognition-in-individuals-with-ataxia-a-pilot-feasibility-placebo-randomized-controlled-trial-100615704","NCT07296068","Can Acute Photobiomodulation Improve Balance and Cognition in Individuals With Ataxia: a Pilot Feasibility Placebo Randomized Controlled Trial.","Inclusion Criteria:\n\n* Age 18-70 years (inclusive)\n* Diagnosis of ataxia\n* Able to walk independently for at least 5 minutes, with or without an assistive device\n* Able to stand safely for balance testing, with or without an assistive device\n* Hemodynamically stable (stable blood pressure and heart rate at rest)\n* On a stable medication regimen for ≥4 weeks prior to enrolment\n* Sufficient vision and hearing (with usual aids if required) to complete balance and cognitive assessments\n* Able to complete study questionnaires and cognitive tasks (with assistance for reading\u002Fwriting if required)\n* Able and willing to provide written informed consent\n\nExclusion Criteria:\n\n* Current or past history of head injury\n* Use of medications acting on the central nervous system\n* Active skin conditions on the forehead or scalp\n* Any other major neurological disorder that could independently affect balance or cognition\n* Ongoing brain stimulation therapy\n* History of migraines\n* Sensitive skin, allergies","70 Years",{"count":193,"type":21},20,[24],"Cerebellar ataxias cause progressive impairments in balance, gait coordination, motor timing, and cognitive functions such as attention and executive control (Buckner, 2013; Salmi et al., 2010; Timmann \\& Daum, 2007). These symptoms substantially reduce independence and quality of life, and current treatments remain limited. There is an urgent need for safe, low-burden interventions that can support everyday functioning and potentially enhance compensatory neural processes.\n\nTranscranial photobiomodulation (tPBM) uses red and near-infrared light (600-1100 nm) to modulate mitochondrial cytochrome-c oxidase, increasing ATP production, reducing oxidative stress, and improving cerebral blood flow (Hamblin, 2016; Salehpour et al., 2019). Several studies show that tPBM can acutely improve cognitive performance and motor control in both healthy adults and clinical groups (Barrett \\& Gonzalez-Lima, 2013; Chan et al., 2019; Henderson \\& Morries, 2017). A growing neurobiological literature suggests that light can penetrate posterior cortical areas sufficiently to modulate networks involving cerebellar-cortical loops (Jagdeo et al., 2012).\n\nImportantly for ataxia, preliminary work shows that tPBM may acutely improve balance stability and gait metrics in older adults and patients with neurological conditions (Moro et al., 2022; Shin et al., 2021). In our own laboratory, we have observed immediate improvements in sway range and cognitive control in older adults after a 24-minute tPBM session applied over midline and posterior scalp regions. These medium to large size effects are consistent with enhanced sensorimotor integration and improved control of attention in distracting environments.\n\nGiven that individuals with cerebellar ataxia experience both motor incoordination and difficulties in maintaining cognitive stability under distracting conditions, tPBM is a promising non-pharmacological intervention worth preliminary investigation.",[28],"NOT_YET_RECRUITING","2025-12-08",{"date":200,"type":41},"2025-12-22",{"date":202,"type":21},"2026-06-01",{"date":204,"type":21},"2027-12-10",{"name":206,"class":48},"University of Central Lancashire",{"id":208,"slug":209,"hasResults":11,"nctId":210,"briefTitle":211,"officialTitle":211,"acronym":4,"eligibilityCriteria":212,"healthyVolunteers":11,"sex":17,"minAge":85,"maxAge":213,"enrollmentInfo":214,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":216,"conditions":217,"keywords":222,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":226,"lastUpdatePostDateStruct":227,"startDateStruct":229,"completionDateStruct":231,"leadSponsor":233,"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":215,"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.",[218,96,219,220,221,90,91,92,93,94,95,28,97,98],"Epilepsy-Dyskinesia","Dyskinesia","EDS","Epilepsy-Dyskinesia Syndomes",[223,218,224,219,101,102,105,106,107,112,108,109,110,111,113,114,115,116,117,225],"epilepsy","Epilepsy-Dyskinesia Syndrome","ADCY5","2025-08-15",{"date":228,"type":41},"2025-08-17",{"date":230,"type":41},"2025-06-01",{"date":232,"type":21},"2030-07",{"name":126,"class":48},{"id":235,"slug":236,"hasResults":11,"nctId":237,"briefTitle":238,"officialTitle":239,"acronym":4,"eligibilityCriteria":240,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":241,"enrollmentInfo":242,"targetDuration":4,"studyType":22,"phases":244,"briefSummary":245,"conditions":246,"keywords":248,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":255,"lastUpdatePostDateStruct":256,"startDateStruct":258,"completionDateStruct":260,"leadSponsor":262,"locationsCount":49},"100563570","home-based-gait-and-balance-training-in-patients-with-movement-disorders-100563570","NCT06617884","Home-based Gait and Balance Training in Patients With Movement Disorders","Comparison of Two Home-based Gait and Balance Trainings With Different Training Frequencies in Patients With Parkinson's Disease and Ataxia","Inclusion Criteria:\n\n* clinical diagnosis of cerebellar ataxia or idiopathic Parkinson's syndrome\n* opportunity to walk a distance of four meters unhindered at home\n\nExclusion Criteria:\n\n* other diseases with an impact on motor skills\n* severe primary psychiatric illnesses\n* current drug or alcohol addiction\n* consumptive diseases\n* poor general condition\n* increased risk of falling (anamnestic fall frequency of ≥ 1x per week or as assessed by the attending physician)\n* incapacitated patients in official or court custody or patients unable to give consent\n* for PD patients taking medication: not being able to carry out the measurement in the on-phase of the medication","75 Years",{"count":243,"type":21},80,[24],"The research project is an experimental study with three study visits at the study site at the University Hospital Düsseldorf (UKD) \u002F Heinrich Heine University Düsseldorf (HHU) and a three-week training phase in a parallel design. Patients with movement disorders (ataxia or Parkinson\\'s disease) can take part. The training phase includes individually adapted, targeted, video-based coordination and balance training, which should lead to an improvement in gait and balance. Two different training protocols are carried out in parallel for three weeks each: One with 20 minutes of training per day, four days per week; and one with a training duration of 40 minutes per day, only two days per week. All patients initially take part in a one-week familiarization phase without training and are then randomly assigned to one of the two training protocols or the control group without additional training. In both training phases, the total amount of weekly training time is the same, but the frequency and duration of training sessions per week differs. The patients who were assigned to the control group without additional training can complete the training after their third study visit.",[28,247],"Parkinson Disease",[249,250,251,252,101,28,253,254],"Training","home-based","video-based","motion capturing","PD","Parkinsons Disease","2025-08-08",{"date":257,"type":41},"2025-08-13",{"date":259,"type":41},"2023-01-04",{"date":261,"type":21},"2025-12",{"name":263,"class":48},"Forschungszentrum Juelich",{"id":265,"slug":266,"hasResults":11,"nctId":267,"briefTitle":268,"officialTitle":268,"acronym":269,"eligibilityCriteria":270,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":271,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":273,"conditions":274,"keywords":281,"overallStatus":197,"whyStopped":4,"lastUpdateSubmitDate":286,"lastUpdatePostDateStruct":287,"startDateStruct":288,"completionDateStruct":290,"leadSponsor":292,"locationsCount":4},"100599041","structural-validity-and-inter-rater-reliabitiliy-of-the-ataxia-trunk-lower-and-upper-extremity-scale-atlas-100599041","NCT07079332","Structural Validity and Inter-rater Reliabitiliy of the Ataxia Trunk, Lower And Upper Extremity Scale (ATLAS)","ATLASReVa","Inclusion Criteria:\n\n* Be adults\n* Be able to provide written informed consent\n* Be able to understand and follow simple physical instructions\n* Have a diagnosis of genetic or hereditary ataxia, or a cerebellar or pontine stroke (either hemorrhagic or ischemic), confirmed by a neurologist\n\nExclusion Criteria:\n\n* Muscle group strength \\\u003C 3 on the Medical Research Council (MRC) scale\n* Spasticity \\> 2 in any muscle on the Modified Ashworth Scale\n* Pain \\> 5 on the Visual Analogue Scale (VAS) in any part of the body",{"count":272,"type":21},64,"Ataxia is a neurological disorder affecting coordination, caused by damage to the cerebellum, brainstem, or related pathways. It can be hereditary (e.g., Friedreich's ataxia) or acquired (e.g., multiple sclerosis, stroke). Though rare, ataxia significantly impacts quality of life and independence. Treatments are limited and mainly focus on multidisciplinary rehabilitation. Accurate assessment is essential, yet current tools like Scale for the Assessment and Rating of Ataxia (SARA) have limitations. This study aims to validate a new scale, named the Ataxia Trunk, Lower And upper extremity Scale (ATLAS), through Rasch analysis, to develop a shorter, reliable version. It will assess internal consistency, construct validity, and inter-rater reliability.\n\nFor the valitdity part, statistics will be used (1) to see if the different items of the scale are indeed different and complementary to each other, and (2) to compare the results of this scale with other scales already known and valid (SARA, Trunk Impairment Scale (TIS) and Functional Impairment Measurement(FIM)). Secondly, the investigators would like to know whether ATLAS is reliable. In this particular case, the reliability being assessed is inter-rater reliability, i.e. whether all raters give the same score on the items performed by the patient. To carry out such a study, 64 people will be needed to achieve these goals. Each person will complete the 20 items of the ATLAS scale, those of a trunk motor capacity assessment (TIS), and will evaluate his or her functional independence (FIM).",[275,276,277,28,278,279,280],"Ataxia, Cerebellar","Ataxia, Gait","Ataxia, Motor","Ataxia, Spinocerebellar","Ataxias, Hereditary","Ataxia - Other",[28,282,283,284,285],"Scale","Validity Study","reliability study","new scale","2025-08-07",{"date":257,"type":41},{"date":289,"type":21},"2025-09-01",{"date":291,"type":21},"2028-12-31",{"name":293,"class":48},"Haute Ecole de Santé Vaud",{"id":295,"slug":296,"hasResults":11,"nctId":297,"briefTitle":298,"officialTitle":299,"acronym":4,"eligibilityCriteria":300,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":301,"targetDuration":4,"studyType":61,"phases":4,"briefSummary":303,"conditions":304,"keywords":310,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":315,"lastUpdatePostDateStruct":316,"startDateStruct":318,"completionDateStruct":320,"leadSponsor":322,"locationsCount":324},"100589740","neuroimmunology-registry-and-biobank-100589740","NCT06958341","Neuroimmunology Registry and Biobank","Registry for Patients With Antibody-mediated Neuroimmunological Diseases","Inclusion Criteria:\n\n1. Differential diagnosis: suspected neuroimmunological disease in which a lumbar puncture is indicated for further diagnosis and treatment decision\n2. Individuals with unclear clinical diagnosis where additional CSF is to be collected for isolation of B cells and production of monoclonal antibodies. The clinical condition of the patients and his\u002Fher compliance have to allow an extra 2-3 ml of CSF to be collected.\n3. Age: all age groups\n4. Gender: patients of both sexes will be included\n\nExclusion criteria:\n\n\\[1\\] Withdrawal of consent",{"count":302,"type":21},300,"A variety of antineuronal antibodies have been detected in the cerebrospinal fluid (CSF) of patients with neurological diseases. This raises the question of whether these antibodies are disease-specific or merely an epiphenomenon of inflammatory processes in the brain.\n\nThe registry was established with the following objectives: \\[1\\] Are antineuronal antibodies much more common than previously thought in various neurological disorders for which the etiology has not yet been elucidated? \\[2\\] Can further correlations, such as those between HSV infection and NMDA receptor autoimmunity, be identified? \\[3\\] Are these antibodies mainly non-specific epiphenomena or are they crucial for the pathogenesis? \\[4\\] What is the clinical course of patients with antineuronal antibodies and their response to therapy? These questions will be addressed in a broad immunohistological screening of a large number of CSF samples and a clinical database of patients with neurological disorders.",[305,306,307,96,98,308,309,28],"Encephalopathy","Psychosis","Impaired Consciousness","Motor Neuropathy","Spasticity",[311,312,313,314],"neuroimmunological diseases","cerebrospinal fluid","cell-based assay","tissue-based assay","2025-05-03",{"date":317,"type":41},"2025-05-06",{"date":319,"type":41},"2021-02-01",{"date":321,"type":21},"2031-07-01",{"name":323,"class":48},"Charite University, Berlin, Germany",2,{"id":326,"slug":327,"hasResults":11,"nctId":328,"briefTitle":329,"officialTitle":330,"acronym":4,"eligibilityCriteria":331,"healthyVolunteers":57,"sex":17,"minAge":332,"maxAge":241,"enrollmentInfo":333,"targetDuration":4,"studyType":22,"phases":334,"briefSummary":335,"conditions":336,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":344,"lastUpdatePostDateStruct":345,"startDateStruct":347,"completionDateStruct":349,"leadSponsor":351,"locationsCount":49},"100473362","home-exercise-for-individuals-with-neurodegenerative-disease-100473362","NCT05443906","Home Exercise for Individuals with Neurodegenerative Disease","Study of Adapted Exercise and Mindfulness Interventions to Improve Motor Function and Sleep Quality in Individuals with Neurodegenerative Disease","Inclusion Criteria:\n\n* The eligibility criteria for males is X-linked adrenoleukodystrophy as determined by biochemical determination or genetic testing.\n* The eligibility criteria for females is X-linked adrenoleukodystrophy as determined by biochemical determination, genetic testing, or pedigree analysis.\n* The Leukoenceophalopathy with brainstem and spinal cord involvement and lactate elevation inclusion criterion is a confirmed DARS2 mutation through genetic analysis.\n* For people with cerebellar ataxia, people with diagnoses of cerebellar damage from stroke, tumor or degeneration will be included. Those with a genetically confirmed cerebellar disorder will be asked to provide their genetic testing to note their particular type of ataxia.\n* We will also include patients with other neurodegenerative diseases similar to these disorders as determined by chart review and clinical exam.\n\nHealthy Volunteers\n\n* Able to stand for 30 seconds without upper extremity support\n* Ambulatory (including use of a cane or a walker)\n* Able to walk for 2 minutes\n\nExclusion Criteria:\n\n* Other medical or psychological conditions which in the clinical judgement of the investigator would interfere with acquiring the study information or performing the exercises safely including but not limited to:\n\nUncontrolled hypertension, orthopedic conditions, diabetes, seizure disorder, peripheral vestibular loss, severe aphasia, dementia, pregnancy","5 Years",{"count":138,"type":21},[24],"The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.",[337,338,28,339,340,341,342,343],"Neurodegenerative Diseases","Leukodystrophy","LBSL","Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation","Cerebellar Ataxia","Adrenomyeloneuropathy","2025-03-06",{"date":346,"type":41},"2025-03-10",{"date":348,"type":41},"2023-02-13",{"date":350,"type":21},"2027-07-30",{"name":352,"class":48},"Hugo W. Moser Research Institute at Kennedy Krieger, Inc.",{"id":354,"slug":355,"hasResults":11,"nctId":356,"briefTitle":357,"officialTitle":358,"acronym":359,"eligibilityCriteria":360,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":361,"targetDuration":4,"studyType":22,"phases":363,"briefSummary":364,"conditions":365,"keywords":368,"overallStatus":197,"whyStopped":4,"lastUpdateSubmitDate":372,"lastUpdatePostDateStruct":373,"startDateStruct":375,"completionDateStruct":377,"leadSponsor":379,"locationsCount":381},"100522995","rehabilitation-program-on-genetic-and-degenerative-ataxia-100522995","NCT06089863","Rehabilitation Program on Genetic and Degenerative Ataxia","Evaluation of the Effect of PAMPERO Rehabilitation Program in Collaboration With Patient Partner on the Symptom Intensity, Activity, and Quality of Life on Genetic and Degenerative Ataxia","RAPP","Inclusion Criteria:\n\n* ≥ 18 years\n* Patients with genetic and degenerative cerebellar ataxia\n* Diagnostic of cerebellar ataxia confirmed by anatomic MRI\n* Affiliated to a social insurgence regime or similar\n* Patients who have given their free, informed and express consent\n* Walking patients (who can walk unsupervised on flat ground with the help of proper technique : categories greater than 4 on the New Functional Ambulation Classification scale)\n\nNon inclusion Criteria:\n\n* Patients who have already benefited from a hospitalization of more than 3 weeks for rehabilitation during the last 12 months\n* Patients participating simultaneously in another research whose objective would be the evaluation of a therapy, medicinal or not, likely to improve neurological or functional recovery\n* Pregnants, parturient or breastfeeding\n* Patients deprived of their liberty by a judicial or administrative decision\n* Psychiatric care patients\n* Patients admitted to Patients admitted to a health or social establishment for purposes other than research for purposes other than research\n* Major patients protected by the Law",{"count":362,"type":21},48,[24],"Cerebellar ataxia is a pathology linked to the lesion of the cerebellum or the afferent and\u002For efferent cerebellar pathways. The aetiology can be an acquired cerebral lesion, following a chemical poisoning or a genetic degenerative lesion (for example : Friedreich's ataxia, spinocerebellar ataxias, etc.). As reported by the latest estimate available, genetic degenerative cerebellar ataxias affect approximately 6,000 patients in France (Orpha.net). Symptoms suffered by ataxic patients are : problems and gait disorders along with difficulties in coordination resulting in ataxia, uncoordinated movements.\n\nThese symptoms cause a decrease in the quality of life on patients with spinocerebellar ataxia. The symptoms improvement linked to the cerebellar syndrome is based on rehabilitation that can be supplemented by use of technical aids. Current scientific knowledge confirms that intensive rehabilitation by physiotherapy and occupational therapy in patients with degenerative ataxias improves cerebellar symptoms. Nevertheless, the choice rehabilitation technique stay at the appreciation of the therapist.\n\nFrom the observation, the investigators have designed an intensive multidisciplinary rehabilitation program, called PAMPERO, with partner patients member of two genetic degenerative ataxia patient organisations. This 5-weeks program has been used in clinic during 3 years on 28 patients. It appears to be the only one in France.\n\nThe preliminary results show a positive effect on ataxia symptom. Nevertheless, the duration of the benefice over time and the effect on the quality of life stay unknown.\n\nHowever, the quality of life is mainly affected by the participation restriction due to the risk of falling. The most frequent complaint from partner patient is the diminution of the social interaction resulting of the incapacity to move without risk.\n\nThe present protocol aimed at evaluating the Rehabilitation Program in collaboration with partner patient on the symptom intensity, activity and quality of life on genetic and degenerative ataxia.\n\nThis PAMPERO program's effect will be assessed by comparing the difference of Intensity of symptom measured by to Scale for the Assessment and Rating of Ataxia (SARA) at inclusion and 3 months after the end of rehabilitation.",[28,366,367],"Degenerative Disease","Genetic Disease",[369,370,35,371],"Genetic ataxia","Degenerative ataxia","Cerebellar ataxia","2024-01-15",{"date":374,"type":41},"2024-01-17",{"date":376,"type":21},"2024-02-01",{"date":378,"type":21},"2027-10-01",{"name":380,"class":48},"Hospices Civils de Lyon",3]