[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cmt\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cmt":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,46,78],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":17,"sex":18,"minAge":19,"maxAge":20,"enrollmentInfo":21,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":25,"conditions":26,"keywords":31,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":34,"lastUpdatePostDateStruct":35,"startDateStruct":38,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100636805","tremor-in-charcot-marie-tooth-100636805",false,"NCT07570459","TREMOR IN CHARCOT-MARIE-TOOTH","Investigation of Tremor in Patients With Charcot-Marie-Tooth Neuropathy","CMT-TREM","Inclusion Criteria:\n\n* Clinical CMT Diagnosis \u002F Anamnestically Healthy Control Group\n* Genetic confirmation of CMT in adult patients\n* Ability to achieve the outcome measure at baseline\n* Age between 18 and 65 years\n* Capacity of all study participants to consent and signed informed consent, including patient or participant information and consent form\n\nExclusion Criteria:\n\n* Pregnancy or breastfeeding period\n* Other relevant neurological or psychiatric disorders, acute or in the past history\n* Presence of a serious previous internal disease",true,"ALL","18 Years","65 Years",{"count":22,"type":23},75,"ESTIMATED","OBSERVATIONAL","Tremor is a symptom that has already been described in many case reports and case series concerning patients with Charcot-Marie-Tooth (CMT) disease. However, the pathophysiology of tremor in this condition remains largely unclear. It has also not been sufficiently investigated to what extent tremor in CMT patients constitutes a relevant impairment of quality of life.\n\nThis project focuses on a more detailed characterization of tremor in CMT patients using surface electromyography and accelerometer analysis, as well as the collection of individual clinical data, particularly regarding the symptom of tremor, in order to facilitate the characterization and etiological classification of the tremor. In addition, a questionnaire-based assessment will be conducted to capture the impact of tremor on activities of daily living and the associated burden in this specific patient cohort.\n\nThe entire data collection process will be supported by a clinical examination, which will be video-recorded by experienced neurologists to ensure more reliable analysis. This serves both the characterization of tremor and the illustration of its functional limitations. Where available, the data will be correlated with genetic variants to allow conclusions about possible genetic predispositions or disease progression. As a control group, CMT patients who have not yet reported a tremor will be included.",[27,28,29,30],"CMT","CMT (Charcot Marie Tooth Disease)","Charcot Marie Tooth Disease (CMT)","Charcot Marie Tooth Disease",[32],"Tremor in CMT","RECRUITING","2026-04-29",{"date":36,"type":37},"2026-05-06","ACTUAL",{"date":39,"type":37},"2024-07-30",{"date":41,"type":23},"2026-10-30",{"name":43,"class":44},"University Medical Center Goettingen","OTHER",1,{"id":47,"slug":48,"hasResults":11,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":17,"sex":18,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":58,"conditions":59,"keywords":63,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":45},"100629568","a-multi-omic-approach-to-the-identification-of-novel-biomarkers-in-early-charcot-marie-tooth-1a-disease-cmt1a-100629568","NCT07476365","A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)","A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A) (CMT-MODs)","CMT-MODs","Inclusion criteria:\n\n* collaborative children, adolescents and young adults aged 10-30 years\n* genetic diagnosis of CMT1A, or clinical diagnosis and genetic diagnosis in affected relatives\n* able to walk with\u002F without support.\n\nExclusion Criteria:\n\n* neuromuscular disorders other than CMT1A\n* concomitant disease preventing correct patient evaluation and contraindication to qMRI","10 Years","30 Years",{"count":57,"type":23},70,"The most common inherited neuropathy is Charcot-Marie-Tooth disease type 1A (CMT1A), caused by a duplication of the gene expressing PMP22. CMT1A patients develop symptoms in early childhood with variable progression and there is no established therapy until now. Therapy must start in childhood, before peripheral nerves degenerate. However, the investigators lack easily obtainable biomarkers in early disease stages. In peripheral nerves from young CMT1A rats, the invstigators found changes in gene regulation that predicted the clinical disease severity later in adulthood, and gene expression from blood samples in young CMT1A rats were strong predictors of the future disease course. In blood samples from adult CMT1A patients, changes in gene expression also correlated with disease severity, demonstrating that findings can be \"translated\" from CMT rats to patients.\n\nObjectives: In CMT-MODs, the investigators will identify disease and prognostic biomarkers in young CMT1A patients.\n\nStrategy\u002F Methodology: In a translational approach, the investigators will first perform a multi-omic analysis (transcriptomic and proteomic) in sciatic nerves, blood and skin of young CMT1A rats at two timepoints in order to identify novel early markers of disease severity. In parallel, the investigators will assess a large cohort of CMT1A children, adolescents and young adults aged 10-30 years over 12 months applying the novel clinical outcome measures CMT Examination Score\u002FCMT Neuropathy Score Version Version 2 Rasch versions (CMTES-R\u002FCMTNSv2-R), the functional outcome measure CMT-FOM, pCMT-Qol, as well as a nerve conduction study (NCS) and quantitative MRI. Moreover, the following patient-reported outcome measures (PROMs) will also applied: VAS (pain, fatigue, cramps), WALK-12 and PGI-c. Blood (and optional skin) samples will be taken and gene expression of the most promising candidates, which the investigators originally identified in CMT rats, will be measured.\n\nResults: This unprecedented assessment of CMT patients and animal models at early disease stages will allow CMT-MODs to establish biomarkers that may serve as a standard readout for disease severity and predict the disease course.\n\nImpact: These novel diagnostic measures are urgently needed and will make clinical trials in early disease stages (children) possible in order to effectively treat and prevent CMT1A disease. Without effective biomarkers, promising preclinical therapeutic strategies cannot be translated to patients.",[27,28,60,61,62],"CMT - Charcot-Marie-Tooth Disease","CMT1A","CMT 1A",[64,65,66,67,68,69],"CMT1A children","blood-derived prognostic biomarkers","MRI biomarkers","transcriptomics","disease modifier","animal model","2026-04-09",{"date":72,"type":37},"2026-04-13",{"date":74,"type":37},"2025-03-24",{"date":76,"type":23},"2026-09-30",{"name":43,"class":44},{"id":79,"slug":80,"hasResults":11,"nctId":81,"briefTitle":82,"officialTitle":83,"acronym":84,"eligibilityCriteria":85,"healthyVolunteers":11,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":86,"targetDuration":54,"studyType":24,"phases":4,"briefSummary":88,"conditions":89,"keywords":155,"overallStatus":33,"whyStopped":4,"lastUpdateSubmitDate":162,"lastUpdatePostDateStruct":163,"startDateStruct":165,"completionDateStruct":167,"leadSponsor":169,"locationsCount":171},"100289408","the-myelin-disorders-biorepository-project-100289408","NCT03047369","The Myelin Disorders Biorepository Project","The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network","MDBP","Inclusion Criteria (Affected Subjects):\n\n* Male or female of any age;\n* Suspected or confirmed diagnosis of leukodystrophy or other disorder affecting the white matter of the brain based primarily on the finding of central nervous system neuroimaging consistent with this diagnosis or on an existing diagnosis of a leukodystrophy or genetic leukoencephalopathy as defined in existing classification systems, or in the presence of variant(s) of uncertain significance or genotype consistent with leukodytrophy;\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent;\n* Willingness to provide clinical data, participate in standardized assessments, and\u002For provide biologic samples.\n\nExclusion Criteria (Affected Subjects)\n\n* Established diagnosis at the time of referral that is not consistent with a genetic disorder of the white matter, such as an acquired demyelinating condition (e.g. multiple sclerosis), or an infectious etiology, with the exception of sequelae of congenital infections such as CMV;\n* Inability to provide consent.\n\nInclusion Criteria (Healthy Controls)\n\n* Male or female of any age;\n* Individuals with no confirmed or suspected diagnosis of leukodystrophy or other disorder affecting the white matter of the brain (including affected patients' caregivers);\n* Documentation of informed consent by the subject, parent, or legal guardian, and, if appropriate, documentation of assent.\n\nExclusion Criteria (Healthy Controls)\n\n\\- Inability to provide consent.",{"count":87,"type":23},12000,"The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago.\n\nResearchers working in the biorepository hope to use these materials to uncover new genetic etiologies for various leukodystrophies, develop biomarkers for use in future clinical trials, and better understand the natural history of these disorders. The knowledge gained from these efforts may help improve the diagnostic tools and treatment options available to patients in the future.",[90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,137,138,139,140,141,142,27,143,144,145,146,147,148,149,150,151,152,153,154],"Leukodystrophy","White Matter Disease","Leukoencephalopathies","4H Syndrome","Adrenoleukodystrophy","AMN","ALD","ALD Gene Mutation","ALD (Adrenoleukodystrophy)","X-linked Adrenoleukodystrophy","X-ALD","Adrenomyeloneuropathy","Aicardi Goutieres Syndrome","AGS","Alexander Disease","Alexanders Leukodystrophy","AxD","ADLD","Canavan Disease","CTX","Cerebrotendinous Xanthomatoses","Krabbe Disease","GALC Deficiency","Globoid Leukodystrophy","TUBB4A-Related Leukodystrophy","H-ABC - Hypomyelination, Atrophy of Basal Ganglia and Cerebellum","HBSL","HBSL - Hypomyelination, Brain Stem, Spinal Cord, Leg Spasticity","LBSL","Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and High Lactate Syndrome (Disorder)","Leukoencephalopathy With Brainstem and Spinal Cord Involvement and Lactate Elevation","ALSP","CSF1R Gene Mutation","HCC - Hypomyelination and Congenital Cataract","MLC1","Megalencephalic Leukoencephalopathy With Subcortical Cysts","MLD","Metachromatic Leukodystrophy","PMD","Pelizaeus-Merzbacher Disease","PLP1 Null Syndrome","PLP1 Gene Duplication | Blood or Tissue | Mutations","Pelizaeus Merzbacher Like Disease","Peroxisomal Biogenesis Disorder","Zellweger Syndrome","Refsum Disease","Salla Disease","Sialic Storage Disease","Sjögren","Sjogren-Larsson Syndrome","Van Der Knapp Disease","Vanishing White Matter Disease","Charcot-Marie-Tooth","Mct8 (Slc16A2)-Specific Thyroid Hormone Cell Transporter Deficiency","Allan-Herndon-Dudley Syndrome","Cadasil","Cockayne Syndrome","Multiple Sulfatase Deficiency","Gangliosidoses","GM2 Gangliosidosis","BPAN","Labrune Syndrome","LCC","Mucopolysaccharidoses","TBCK-Related Intellectual Disability Syndrome",[156,157,158,159,160,161],"leukodystrophy","white matter disease","leukoencephalopathy","myelin","demyelinating","mdbp","2025-10-22",{"date":164,"type":37},"2025-10-23",{"date":166,"type":37},"2016-12-08",{"date":168,"type":23},"2030-12-08",{"name":170,"class":44},"Children's Hospital of Philadelphia",23]