[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"charcot-marie-tooth-disease-type-1a\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:charcot-marie-tooth-disease-type-1a":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,45,72,100],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"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":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100648681","clinical-trial-evaluating-the-impact-of-an-intensive-rehabilitation-program-combined-with-tendon-vibratory-stimulation-on-functional-balance-in-individuals-with-charcot-marie-tooth-disease-type-1a-100648681",false,"NCT07726043","Clinical Trial Evaluating the Impact of an Intensive Rehabilitation Program Combined With Tendon Vibratory Stimulation on Functional Balance in Individuals With Charcot-Marie-Tooth Disease Type 1A","EQUIVIB-CMT","Inclusion Criteria:\n\n* Individuals with genetically confirmed Charcot-Marie-Tooth disease type 1A (CMT1A), characterized by PMP22 gene duplication on chromosome 17 (17p11.2).\n* Age between 18 and 65 years.\n* Overall Neuropathy Limitations Scale (ONLS) score between 2 and 3\u002F7 for the lower limbs.\n* Affiliation with a social security\u002Fhealth insurance system.\n* Written informed consent voluntarily provided after receiving information regarding the study objectives, procedures, and potential risks.\n\nExclusion Criteria:\n\n* Comorbidities causing peripheral neuropathy (e.g., diabetes, renal failure, medication-induced neuropathy).\n* Balance or gait disorders due to another cause.\n* Individuals without a permanent residence.\n* Individuals deprived of liberty by judicial or administrative decision or under legal guardianship.\n* Individuals unable to understand the study objectives and procedures or unable to provide informed consent.\n* Individuals unable to complete all study procedures.\n* Previous use of the Vibramoov device.\n* Pregnant women or women planning to become pregnant during the study period.\n* Concurrent participation in another research study.","ALL","18 Years","65 Years",{"count":20,"type":21},30,"ESTIMATED","INTERVENTIONAL",[24],"NA","Charcot-Marie-Tooth (CMT) disease is caused by a genetic abnormality involving the PMP22 gene, resulting in demyelination of the peripheral nerves. Demyelination leads to sensorimotor impairment and causes progressive muscle weakness and tendon contractures, initially affecting the lower limbs. Consequently, individuals with CMT experience balance impairments and gait disturbances, including ankle instability, foot drop, and postural instability, which lead to frequent falls and reduced quality of life. Currently, there is no disease-modifying treatment for CMT.\n\nSeveral rehabilitation approaches have been proposed, including endurance training and muscle strengthening programs, to improve independence in activities of daily living. However, rehabilitation practices for individuals with CMT remain poorly standardized, and there is still a lack of clearly defined rehabilitation protocols, despite broad agreement among healthcare professionals regarding their potential benefits.\n\nMore recently, noninvasive focal tendon vibration has been investigated in several neurological disorders to improve sensory function, balance, and motor performance. Previous studies suggest that mechanical vibratory stimulation applied to the quadriceps tendon may induce sustained improvements in postural control and lower-limb muscle strength.\n\nThe present study aims to evaluate a rehabilitation program combined with tendon vibratory stimulation. The objective is to compare the effectiveness of a short-term (2-week), intensive multidisciplinary rehabilitation program focused on balance with different types of focal tendon vibration, in order to better address balance impairments and their associated complications in individuals with Charcot-Marie-Tooth disease.",[27],"Charcot-Marie-Tooth Disease Type 1A",[29,30,31],"Charcot-Marie-Tooth Disease","Vibration","Balance","RECRUITING","2026-07-30",{"date":35,"type":36},"2026-08-03","ACTUAL",{"date":38,"type":36},"2025-04-28",{"date":40,"type":21},"2027-12-31",{"name":42,"class":43},"UGECAM PACA et Corse","OTHER",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":55,"briefSummary":57,"conditions":58,"keywords":60,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":5},"100603753","phase-1-a-first-in-human-study-to-assess-the-safety-tolerability-and-pharmacokinetics-of-edk060-in-adults-with-cmt1a-100603753","NCT07140614","A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.","A First-in-human, Multi-center, Randomized, Participant- and Investigator-blinded, Placebo Controlled, Single Ascending Dose Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With Charcot-Marie Tooth Type 1A (CMT1A).","Inclusion Criteria:\n\n* Provide written informed consent before any assessment is performed.\n* Be male or female and 18 to 60 (inclusive) years of age at the time of screening.\n* Participant must have a clinical diagnosis of Charcot-Marie-Tooth Disease Type 1A (CMT1A) including verified documentation of genetic testing showing duplication of the PMP22 gene by an accredited\u002Fcertified laboratory (according to local regulations)\n* Have detectable upper extremity nerve conduction velocities (sensory and\u002For motor) in at least one extremity at screening.\n* CMTNSv2R score \\>2 and ≤20 in at least one assessment, confirmed either at the baseline visit or documented in the medical record within the 6 months prior to baseline.\n* Muscle weakness evidenced by foot dorsiflexion MRC grade \\\u003C5 in at least one limb, confirmed either at screening assessment or documented in the medical record within the 6 months prior to screening.\n\nExclusion Criteria\n\n* Unable to communicate well with the investigator, to understand and comply with the visits and procedures of the study.\n* History of cardiac, renal, liver, hematological, immune system disorders.\n* Pregnant\u002Fnursing female participants. Women of child-bearing potential, defined as all women physiologically capable of becoming pregnant, unless they are using highly effective methods of contraception during dosing and for the duration of the follow-up period. Sexually active males unless they use a condom during intercourse.\n* Inability or unwillingness to provide serial skin biopsy samples.\n* Inability or unwillingness to undergo repeated venipuncture or in the opinion of the investigator, participant would be at an increased risk for adverse events related to these procedures.\n* Use of any drug intended to modify the course of CMT1A within 6 months from screening, including but not limited to: PTX-3003 (baclofen, sorbitol, and naltrexone in combination).\n* History of compression neuropathy within the last 6 months from screening and\u002For other conditions that can cause peripheral neuropathy, including but not limited to diabetes, chronic alcoholism, exposure to neurotoxic medications, exposure to environmental neurotoxins, traumatic nerve injury, thyroid disease, or infections.\n\nOther protocol-defined inclusion\u002Fexclusion criteria may apply","60 Years",{"count":54,"type":21},28,[56],"PHASE1","The purpose of this study is to characterize the safety, tolerability, and pharmacokinetics of EDK060 as compared to placebo in adult patients with CMT1A.",[59],"Charcot-Marie-Tooth Disease, Type 1A",[61],"CMT1A","2026-07-28",{"date":64,"type":36},"2026-07-29",{"date":66,"type":36},"2025-09-30",{"date":68,"type":21},"2028-02-26",{"name":70,"class":71},"Novartis Pharmaceuticals","INDUSTRY",{"id":73,"slug":74,"hasResults":11,"nctId":75,"briefTitle":76,"officialTitle":77,"acronym":4,"eligibilityCriteria":78,"healthyVolunteers":11,"sex":16,"minAge":79,"maxAge":4,"enrollmentInfo":80,"targetDuration":4,"studyType":22,"phases":82,"briefSummary":84,"conditions":85,"keywords":86,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":99},"100541350","phase-1-evaluate-the-safety-and-efficacy-of-en001-in-patients-with-charcot-marie-tooth-disease-type-1acmt1a-phase-1b-open-label-dose-escalation-single-center-phase-2a-randomized-double-blind-placebo-controlled-multicenter-100541350","NCT06328712","Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)","A Phase 1b\u002F2a Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients With Charcot-Marie-Tooth Disease Type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)","Inclusion Criteria:\n\n1. Individuals who have voluntarily agreed to participate in this clinical trial.\n2. Men and women aged 19 years or older at the time of providing written consent.\n3. Individuals who meet all of the following genetic and clinical diagnostic criteria:\n\n   1. Genetic diagnosis: CMT1A type\n   2. Clinical diagnosis:\n\n      * Those with a CMT Neuropathy Score version 2 (CMTNSv2) between 2 or more and 20 or less.\n      * Those experiencing muscle weakness due to foot dorsiflexion impairment.\n4. Women and men of childbearing potential who have agreed to use the appropriate contraceptive method(s) outlined in the protocol during the clinical trial period.\n\n   * Appropriate contraception is defined as follows and is achieved by applying one or more methods of contraception.\n\n     * Hormonal contraceptives\n     * Implantation of an intrauterine device or intrauterine system\n     * Sterilization procedures (vasectomy, tubal ligation, etc.)\n     * Double contraceptive method: male condom along with other contraceptive methods \\[hormonal contraceptives (oral contraceptives, subcutaneous contraceptives (Implanon, etc.), long-acting contraceptive injections, emergency contraceptive pills), implantation of an intrauterine device or intrauterine system (Loop, Mirena), Infertility procedures (vasectomy, tubal ligation, etc.)\\]\n     * Abstinence: Absolute abstinence. If, in the examiner's judgment, the subject's age, occupation, lifestyle, or sexual orientation warrants contraception, strict abstinence from sexual intercourse is also acceptable. However, periodic abstinence (e.g. Karenda method, ovulation method, symptomatic temperature method), abstinence, and external vaginal ejaculation are not recognized as appropriate contraceptive methods.\n\nExclusion Criteria:\n\n1. Those with the following comorbidities confirmed at the time of screening\n\n   1. Subjects with neuromuscular diseases other than CMT1A or neuropathy- inducing factors (uremia) that may affect the safety and efficacy evaluation of this clinical trial, according to the judgment of the investigator.\n   2. Individuals diagnosed with type 1 or type 2 diabetes\n   3. Individuals diagnosed with active pulmonary tuberculosis\n   4. Patients with uncontrolled hypertension (systolic blood pressure over 180 mmHg or diastolic blood pressure over 110 mmHg)\n   5. Subjects with other clinically significant diseases, including significant heart, lung, liver, kidney, hematological, immunological or behavioral diseases or malignant tumors, according to the investigator's judgment\n   6. Individuals who display the specified test abnormalities in laboratory tests at the time of screening:\n\n      * AST or ALT \\> 3 x ULN\n      * Total bilirubin\\> 1.5 x ULN\n      * Serum creatinine \\> 1.5 x ULN\n      * Any one of the serum virus tests (HBsAg, anti-HBc, anti-HCV, HIV Ag\u002FAb) is positive (If anti-HBc positive) However, registration is possible if the HBV DNA test result is negative. (If anti-HCV positive) However, registration is possible if the HCV RNA test result is negative.\n   7. Those who have ankle contracture or have undergone surgery that may affect muscle strength measurement tests\n2. Medical history and surgical history\n\n   1. Those who have undergone orthopedic surgery (bone or ligament correction, artificial joint implantation, osteotomy, arthroscopic surgery) on the lower extremities within 24 weeks before screening\n   2. Those with a history of stroke or cerebral ischemic attack within 48 weeks before screening\n   3. Those with a history of coronary artery disease, such as myocardial infarction or incomplete angina, within 48 weeks before screening\n   4. Those with a history of malignant tumor within 240 weeks before screening (excluding basal cell carcinoma or squamous cell carcinoma that occurs on the skin)\n3. Drugs and therapies prohibited from concurrent use\n\n   1. Those who participated in another clinical trial and administered\u002Fapplied clinical trial drugs\u002Fmedical devices within 4 weeks before screening\n   2. Those who administered\u002Fapplied immunosuppressants, chemotherapy, radiation therapy, etc. within 12 weeks before screening\n   3. Persons who have administered cell therapy or gene therapy throughout their lives\n   4. Persons who have administered neurotoxic drugs that can accelerate peripheral nerve damage ① Within 1 week of Screening\n\n      * Anti-inflammatory agents or antibiotics: Colchicine, Nitrofurantoin\n      * Antiretroviral agents: Zalcitabine, Stavudine\n      * Dichloroacetate\n\n        ② Within 55 weeks of Screening\n      * Antiarrhythmic agent: Amiodarone\n      * Antiparasitic agent: Suramin\n4. Persons with hypersensitivity to the components of clinical investigational products\n5. Those who have had metal substances (heart pacemaker, nerve stimulator, cochlear implant, etc.) implanted in their body\n6. Pregnant, lactating, or planning to become pregnant during the clinical trial period\n7. Subjects with a psychiatric disorder (anxiety disorder, claustrophobia, or other significant mental disorder) or a history of drug and alcohol abuse that may affect the clinical trial, according to the judgment of the investigator.\n8. Those who are deemed inappropriate to participate in clinical trials according to the judgment of the investigator","19 Years",{"count":81,"type":21},27,[56,83],"PHASE2","A Phase 1b\u002F2a Clinical Trial to Evaluate the Safety and Efficacy of EN001 in Patients with Charcot-Marie-Tooth Disease type 1A(CMT1A) (Phase 1b: Open-label, Dose-escalation, Single-center; Phase 2a: Randomized, Double-blind, Placebo-controlled, Multicenter)",[27],[87,61,88,89,90],"EN001","ENCell","MSC","CMT","2026-05-21",{"date":93,"type":36},"2026-05-26",{"date":95,"type":36},"2024-05-30",{"date":97,"type":21},"2026-12-31",{"name":88,"class":71},3,{"id":101,"slug":102,"hasResults":11,"nctId":103,"briefTitle":104,"officialTitle":105,"acronym":106,"eligibilityCriteria":107,"healthyVolunteers":108,"sex":16,"minAge":109,"maxAge":110,"enrollmentInfo":111,"targetDuration":4,"studyType":22,"phases":113,"briefSummary":114,"conditions":115,"keywords":116,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":123,"lastUpdatePostDateStruct":124,"startDateStruct":126,"completionDateStruct":127,"leadSponsor":129,"locationsCount":44},"100596754","identification-of-novel-biomarkers-in-early-charcot-marie-tooth-1a-disease-100596754","NCT07049588","Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease","A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)","CMT-MODS","Inclusion Criteria:\n\n* Healthy volunteer or patient who has given consent for participation in the study or, for minors, a healthy volunteer whose two parents have given consent for participation in the study.\n* Patient with genetically confirmed CMT1A or with a parent whose diagnosis is genetically confirmed\n* Patient able to walk with or without assistance\n\nExclusion Criteria:\n\n* Healthy volunteer with neurological disorders\n* Healthy volunteer or patient with a contraindication to MRI,\n* Healthy volunteers or patient under 30 kg\n* Helathy volunteer on long-term therapy\n* Patient with other neuromuscular pathologies\n* Patient in a period of exclusion from another research protocol at the time of signing the consent\u002Fnon-opposition form\n* Pregnant or breast-feeding women\n* Subjects covered by articles L1121-5 to 1121-8 of the French Public Health Code (minors, adults under guardianship or trusteeship, patients deprived of their liberty, pregnant or breast-feeding women)\n* Subjects who cannot read and understand the French language well enough to be able to give their consent to participate in research",true,"10 Years","30 Years",{"count":112,"type":21},55,[24],"This is a 2-year follow-up study of a cohort of 35 CMT1A patients and 20 healthy volunteers. The main objective is identifying prognostic markers for CMT1A using multi-omics analysis. The study is recruiting subjects between the ages of 10 and 30.\n\nThe 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, we lack easily obtainable biomarkers in early disease stages.\n\nIn CMT-MODs, we will identify disease and prognostic biomarkers in young CMT1A patients.",[27],[61,117,118,119,120,121,122],"Fat Fraction","CMT Examination Score Rasch","CMT Functional Outcome Measure","Skin Biopsy","histological markers","MRI muscle","2025-06-24",{"date":125,"type":36},"2025-07-03",{"date":123,"type":21},{"date":128,"type":21},"2028-06-24",{"name":130,"class":43},"Assistance Publique Hopitaux De Marseille"]