[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"cmt1a\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:cmt1a":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,42,73,110],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"100636804","autonomous-disorders-in-cmt-100636804",false,"NCT07570446","AUTONOMOUS DISORDERS IN CMT","CMT-autonom","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":21,"type":22},50,"ESTIMATED","OBSERVATIONAL","Hereditary neuropathies are a phenotypically and genetically heterogeneous group of disorders. One of the most common forms is Charcot-Marie-Tooth neuropathy (CMT), which can be further divided into demyelinating (CMT1) and axonal (CMT2) neuropathies, as well as various pathogenic genetic variants. In addition to the clinically predominant motor and sensory deficits, symptoms of the autonomic nervous system have also been described in patients with CMT, often leading to significant limitations in daily functioning and quality of life. However, little is known about the prevalence and extent of autonomic dysfunction in CMT patients.\n\nIn this study, patients with CMT will be assessed for the presence, severity, and characteristics of autonomic dysfunction using questionnaires and non-invasive diagnostic methods. Furthermore, diagnosis, genotype, and individual disease data-such as disease duration, severity of neurological impairment, and comorbidities-will be collected from patient records.\n\nThe aim of this study is to evaluate and characterize autonomic dysfunction in patients with CMT. It seeks to determine how frequently autonomic dysfunction occurs in CMT, which areas of the autonomic nervous system are most commonly affected, whether risk factors exist, and what differences can be observed between the various CMT subtypes. The findings of this study are expected to provide new insights into the role of autonomic dysfunction in CMT, ultimately contributing to improved care and treatment for affected patients.",[26,27,28],"CMT - Charcot-Marie-Tooth Disease","CMT1A","CMT (Charcot Marie Tooth Disease)","RECRUITING","2026-04-29",{"date":32,"type":33},"2026-05-06","ACTUAL",{"date":35,"type":33},"2024-07-30",{"date":37,"type":22},"2026-07-30",{"name":39,"class":40},"University Medical Center Goettingen","OTHER",1,{"id":43,"slug":44,"hasResults":11,"nctId":45,"briefTitle":46,"officialTitle":47,"acronym":48,"eligibilityCriteria":49,"healthyVolunteers":16,"sex":17,"minAge":50,"maxAge":51,"enrollmentInfo":52,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":54,"conditions":55,"keywords":58,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":41},"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":53,"type":22},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.",[56,28,26,27,57],"CMT","CMT 1A",[59,60,61,62,63,64],"CMT1A children","blood-derived prognostic biomarkers","MRI biomarkers","transcriptomics","disease modifier","animal model","2026-04-09",{"date":67,"type":33},"2026-04-13",{"date":69,"type":33},"2025-03-24",{"date":71,"type":22},"2026-09-30",{"name":39,"class":40},{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":79,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":81,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":83,"conditions":84,"keywords":89,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":101,"lastUpdatePostDateStruct":102,"startDateStruct":104,"completionDateStruct":106,"leadSponsor":108,"locationsCount":41},"100628458","studying-nerve-function-and-structure-in-charcot-marie-tooth-disease-anti-mag-neuropathy-and-cidp-100628458","NCT07461896","Studying Nerve Function and Structure in Charcot-Marie-Tooth Disease, Anti-MAG Neuropathy and CIDP","Axonal Excitability and Ultrasound Patterns in Charcot-Marie-Tooth Disease and Other Demyelinating Disorders","CMT-NFS","Inclusion Criteria:\n\n1. The subject is ≥ 18 years old.\n\n   AND:\n2. A genetically confirmed diagnosis of one of the several CMT subtypes (i.e., CMT1A, CMT1B, CMTX1, CMT2I\u002FJ, CMT4B, CMT4D and CMT4J) OR\n3. A clinical diagnosis of either Chronic Inflammatory Demyelinating Polyneuropathy or anti-MAG polyneuropathy\n\nExclusion Criteria:\n\n1. Known neuropathy from another cause (e.g., diabetes, chronic renal insufficiency, medications, alcohol), including previous carpal tunnel syndrome surgery.\n2. History of exposure to chemotherapeutic agents (e.g., bortezomib, vincristine, cisplatin, taxol, vedotin\u002Fauromycin-conjugated antibodies), or other medications (e.g., disulfuram, thalidomide, voriconizole, chronic colchicine use) that can cause neuropathy, active alcohol abuse.\n3. History of cancer, other than skin cancer, within 5 years prior to enrollment.\n4. Pregnancy or nursing.\n5. Known systemic disease that predisposes to neuropathy.\n6. Other central nervous system diseases.",{"count":82,"type":22},39,"The project aims to perform both conventional nerve-conduction studies and axonal-excitability assessments using the TRONDF protocol in patients with selected forms of Charcot-Marie-Tooth disease, with comparison to individuals affected by dysimmune, acquired neuropathies, specifically chronic inflammatory demyelinating polyneuropathy (CIDP) and anti-MAG-neuropathy. The study further includes the analysis of nerve fibers obtained from skin biopsy in patients with CMT, as well as ultrasound evaluation of nerves (from the wrist to the axilla) and of intrinsic hand muscles. Axonal-excitability techniques involve the delivery of two electrical stimuli to the nerve under investigation; both stimuli vary in intensity, whereas only the first, known as the conditioning stimulus, varies in duration. Changes in response amplitude are then measured as these stimulation parameters are systematically adjusted. Some preliminary studies have already suggested the effectiveness of this method in distinguishing CMT1A from certain forms of acquired demyelinating disease, including acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and CIDP. Despite the promising results, only a limited number of studies have so far been conducted in humans and mice, and no comprehensive and systematic study has yet been carried out describing the changes in axonal excitability in the various CMT subtypes, either in humans or in mouse models.",[85,27,86,87,88],"Charcot-Marie-Tooth","Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)","Polyneuropathy Associated With Anti-MAG Antibodies (Anti-MAG Polyneuropathy)","Anti-MAG Neuropathy",[85,90,91,92,27,93,94,95,96,97,98,99,100],"Neurophysiology","Axonal excitability","Ultrasound (US)","CMT1B","CMTX1","CMT2I\u002FJ","CMT4B2","CMT4D","CMT4J","CIDP","anti-MAG","2026-03-06",{"date":103,"type":33},"2026-03-10",{"date":105,"type":33},"2025-03-03",{"date":107,"type":22},"2026-05",{"name":109,"class":40},"Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta",{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":114,"acronym":115,"eligibilityCriteria":116,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":117,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":119,"conditions":120,"keywords":121,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":124,"lastUpdatePostDateStruct":125,"startDateStruct":127,"completionDateStruct":129,"leadSponsor":131,"locationsCount":41},"100577145","longitudinal-biomarkers-with-selected-outcome-measures-in-cmt-100577145","NCT06794489","Longitudinal Biomarkers With Selected Outcome Measures In CMT","CMT-BIO-Extend","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",{"count":118,"type":22},75,"The goal of this study is to better understand the progression of CMT1A and identify risk factors influencing disease course. CMT1A, the most common hereditary peripheral neuropathy, shows high variability in individual phenotypes despite genetic similarity. Key objectives include analyzing determinants of phenotypic expression and documenting symptom variability over five years to capture disease dynamics.\n\nAlthough incurable, novel CMT therapies are in development. Proving efficacy is challenging due to slow progression and limited sensitive outcome measures. This study aims to validate biomarkers (DNA\u002Fepigenetics and RNA\u002FRT-PCR) and sensitive outcome measures from blood and skin of CMT patients over five years to support clinical therapy trials. Approximately 25 healthy volunteers will serve as controls, providing blood and skin samples for biomarker validation.\n\nAdditionally, the project will build a tissue collection (skin, blood, and cultured fibroblasts) from CMT patients of various subtypes for unrestricted scientific research, especially for the German CMT-NET network (NCT03386266). Scientific partners have free access to samples and data for research (commercial use is excluded). Currently, this collection includes over 100 standardized skin biopsies from CMT1A patients and is Germany's only repository for hereditary neuropathy tissue samples.",[27,28,57,26],[122,123],"biomarkers","outcome measures","2026-03-05",{"date":126,"type":33},"2026-03-09",{"date":128,"type":33},"2024-11-06",{"date":130,"type":22},"2026-07-05",{"name":39,"class":40}]