[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"neuromuscular-diseases\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:neuromuscular-diseases":25},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,31,0,25,[9,59,94,121,144,162,193,225,282,318,348,373,395,416,436,463,492,523,552,589,610,637,657,675,693],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":4,"eligibilityCriteria":16,"healthyVolunteers":12,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":4,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":31,"overallStatus":50,"whyStopped":4,"lastUpdateSubmitDate":51,"lastUpdatePostDateStruct":52,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":55,"locationsCount":58},"100612219","managed-access-program-for-del-zota-in-participants-with-dmd-mutations-amenable-to-exon-44-skipping-100612219",false,"NCT07250737","Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping","Managed Access to Investigational Use of AOC 1044 in Participants With DMD Mutations Amenable to Exon 44 Skipping","Key Inclusion Criteria\n\nRollover Participants\n\n* Completed Study EXPLORE44-OLE Treatment Period (through W102)\n* No significant tolerability issues with AOC 1044\n\nNew (Non-Rollover) Participants\n\n* Permanently residing in the US and have a US primary health care provider\n* Documented dystrophin gene mutation that is amenable to exon 44 skipping\n* Age 2 or older at the time of consent\n* If previously treated with gene therapy for DMD, treatment and associated immunosuppressive regimen was more than 12 months before consent and in the opinion of the prescriber, participant has had an unsatisfactory treatment response\n\nKey Exclusion Criteria\n\nRollover Participants\n\n• Prescence of any new condition or worsening of existing condition that could affect participant's safety or ability to comply with the program requirements\n\nNew (Non-Rollover) Participants\n\n* Recently treated with or on a clinical study for another investigation drug\n* Serious respiratory or cardiac dysfunction, or nearing end of life\n* Screening laboratory parameters do not meet protocol requirements\n* History of multiple drug allergies or to any component of AOC 1044\n* Participants who discontinued early from the treatment period of EXPLORE44 or EXPLORE44-OLE","MALE","2 Years","EXPANDED_ACCESS","The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.",[22,23,24,25,26,27,28,29,30],"Muscular Disorders, Atrophic","Muscular Diseases","Musculoskeletal Diseases","Neuromuscular Diseases","Nervous System Diseases","Genetic Diseases, Inborn","Genetic Diseases, X-Linked","Muscular Dystrophies","Muscular Dystrophy, Duchenne",[32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49],"Avidity","Avidity Biosciences","AOC 1044","AOC 1044-CS1","AOC 1044-CS2","EXPLORE44","EXPLORE44-OLE","Del-zota","delpacibart zotadirsen","DMD","exon skipping therapy","dystrophin","managed access","expanded access","pre-approval access","compassionate use","MAP","EAP","AVAILABLE","2026-06-26",{"date":53,"type":54},"2026-06-29","ACTUAL",{"name":56,"class":57},"Avidity Biosciences, Inc.","INDUSTRY",14,{"id":60,"slug":61,"hasResults":12,"nctId":62,"briefTitle":63,"officialTitle":64,"acronym":65,"eligibilityCriteria":66,"healthyVolunteers":12,"sex":17,"minAge":67,"maxAge":68,"enrollmentInfo":69,"targetDuration":4,"studyType":72,"phases":73,"briefSummary":75,"conditions":76,"keywords":79,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":84,"lastUpdatePostDateStruct":85,"startDateStruct":87,"completionDateStruct":89,"leadSponsor":91,"locationsCount":93},"100615022","phase-2-phase-2-study-of-sat-3247-in-pediatric-ambulatory-patients-100615022","NCT07287189","Phase 2 Study of SAT-3247 in Pediatric Ambulatory Patients","A Phase 2a, Randomized, Double-Blind, Placebo-Controlled Dose Comparison and Exploratory Efficacy Study of Orally Administered SAT-3247 in Ambulatory DMD Patients","BASECAMP","Key Inclusion Criteria:\n\n* Has a definitive diagnosis of DMD based on documented clinical findings and prior genetic testing with a confirmed mutation in the DMD gene.\n* Male DMD patients who are ambulatory and aged ≥ 7 to \\\u003C 10 years at the time of screening.\n* Stable dose of systemic glucocorticoids (i.e., prednisolone, deflazacort, or vamorolone) according to the standard of care for ≥ 3 months prior to the Screening Visit and for the duration of the trial. Patients who are not receiving glucocorticosteroids are also eligible if stopped ≥ 3 months prior to the Screening Visit.\n* Stable doses of prescription medicines including ACE inhibitors, β-blockers, and diuretics (excluding glucocorticosteroids) and over-the-counter medicines and\u002For herbal supplements for supportive care ≥ 1 month prior to the Screening Visit and for the duration of the trial.\n* Participants that have previously received delandistrogene moxeparvovec (brand name Elevidys) either in a prior clinical trial or in the commercial setting \\> 18 months prior to screening whose muscle function tests have stabilized or demonstrated decline ≥ 3 months prior to Screening, as determined by investigator and documented in chart notes, will be eligible.\n* Participants that have previously received an exon skipper \\> 6 months prior to Screening whose muscle function tests have stabilized or demonstrated decline ≥ 3 months prior to Screening, as determined by investigator and documented in chart notes, will be eligible.\n* Participants receiving a stable dose of givinostat (brand name Duvyzat) for at least 18 months or longer prior to the Screening Visit will be eligible. Participants unable to tolerate givinostat who discontinued treatment before 18 months are eligible to enroll if date of last dose is ≥ 30 days from the Screening date. Givinostat should not be discontinued, if tolerated, to meet study entry criteria.\n* Participants that have received prior treatment with an investigational gene therapy product (other than delandistrogene moxeparvovec) ≥ 24 months prior to the Screening Visit.\n* If participating in a physical therapy\u002Fstrength training regimen, must be stable for ≥ 2 months prior to the Screening Visit and for the duration of the trial.\n\nKey Exclusion Criteria:\n\n* Ambulatory patients expected to experience loss of ambulation within ≤ 12 months.\n* Participants for whom MRI or open muscle biopsy are contraindicated.\n* Evidence of significant hepatic dysfunction, defined as GLDH \\> 2X upper limit of normal (ULN) at the Screening Visit.\n* Impaired cardiac function defined as a left ventricular ejection fraction of \\\u003C 50% on screening cardiac assessments (echocardiogram or MRI) or evidence of symptomatic cardiomyopathy.\n* A forced vital capacity \\\u003C 60% predicted at the Screening Visit.\n* Ongoing participation in any other therapeutic clinical trial or follow-up study for a therapeutic intervention\n* Consumption of grapefruit juice or grapefruit containing products\n* Severe behavioural or cognitive problems that preclude participation in the study, in the opinion of the investigator.\n\nAdditional entry criteria will be reviewed with the clinical site investigator.","7 Years","9 Years",{"count":70,"type":71},51,"ESTIMATED","INTERVENTIONAL",[74],"PHASE2","Phase 2a trial of SAT-3247 in ambulatory DMD patients aged ≥ 7 and \\\u003C 10 years. The trial will study two doses of SAT-3247 in a randomized, double-blind, placebo-controlled weekday regimen for 12 weeks to determine the optimal dose, safety, tolerability, and preliminary efficacy.",[77,78,41,25,29],"Duchenne Muscular Dystrophy","Duchenne",[80,81,82,43],"muscle regeneration","satellite cell","asymmetric division","RECRUITING","2026-06-12",{"date":86,"type":54},"2026-06-16",{"date":88,"type":54},"2025-12-08",{"date":90,"type":71},"2027-06-30",{"name":92,"class":57},"Satellos Bioscience, Inc.",21,{"id":95,"slug":96,"hasResults":12,"nctId":97,"briefTitle":98,"officialTitle":99,"acronym":100,"eligibilityCriteria":101,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":104,"enrollmentInfo":105,"targetDuration":4,"studyType":72,"phases":107,"briefSummary":108,"conditions":109,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":113,"completionDateStruct":115,"leadSponsor":117,"locationsCount":120},"100542185","phase-2-assessment-of-volume-targeted-ventilation-in-patients-with-neuromuscular-disease-100542185","NCT06339580","Assessment of Volume-targeted Ventilation in Patients With Neuromuscular Disease","A Proof-on-concept Study to Investigate the Potential Use of Volume-targeted Ventilation in Patients With Slowly Progressive Neuromuscular Disease","VT-NMD","Inclusion Criteria:\n\n* Slowly progressive neuromuscular disease\n* Established on fixed bi-level ventilation\n* Documented clinical respiratory stability by supervising clinician (no hospitalizations, respiratory infections or change to ventilator settings in preceding 6 weeks)\n\nExclusion Criteria:\n\n* Rapidly progressive neuromuscular disease\n* Decompensated respiratory failure (pH \\\u003C 7.35)\n* Pregnancy\n* Aged \\\u003C18, \\>80\n* Poor adherence to NIV (\\\u003C4hrs per night)\n* Significant physical or psychiatric co-morbidity that would prevent compliance with trial protocol","ALL","18 Years","80 Years",{"count":106,"type":71},30,[74],"Assessment of safety and efficacy of volume-targeted ventilation in patients with neuromuscular disease.",[25],"2026-06-04",{"date":112,"type":54},"2026-06-08",{"date":114,"type":54},"2024-04-09",{"date":116,"type":71},"2026-09-30",{"name":118,"class":119},"Guy's and St Thomas' NHS Foundation Trust","OTHER",2,{"id":122,"slug":123,"hasResults":12,"nctId":124,"briefTitle":125,"officialTitle":125,"acronym":126,"eligibilityCriteria":127,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":128,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":131,"conditions":132,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":137,"startDateStruct":138,"completionDateStruct":140,"leadSponsor":142,"locationsCount":143},"100380679","investigating-health-related-quality-of-life-in-patients-with-chronic-respiratory-failure-100380679","NCT04236726","Investigating Health Related Quality of Life in Patients With Chronic Respiratory Failure","CRF-QoL","Inclusion Criteria:\n\nDiagnosed with chronic respiratory failure receiving any of:\n\n* Non-invasive ventilation\n* Prolonged mechanical ventilation\n* Mechanical insufflation-exsufflation therapy\n\nExclusion Criteria:\n\n* Aged \\\u003C18\n* Significant physical or psychiatric co-morbidity that would prevent compliance with trial protocol",{"count":129,"type":71},200,"OBSERVATIONAL","To determine the quality of life of patients living with chronic respiratory failure and the impact interventions have on it.",[133,134,25,135],"Chronic Obstructive Pulmonary Disease","Respiratory Failure","Ventilatory Failure","2026-06-03",{"date":110,"type":54},{"date":139,"type":54},"2019-12-19",{"date":141,"type":71},"2026-12-31",{"name":118,"class":119},1,{"id":145,"slug":146,"hasResults":12,"nctId":147,"briefTitle":148,"officialTitle":149,"acronym":150,"eligibilityCriteria":151,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":152,"targetDuration":4,"studyType":72,"phases":153,"briefSummary":155,"conditions":156,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":136,"lastUpdatePostDateStruct":157,"startDateStruct":158,"completionDateStruct":159,"leadSponsor":161,"locationsCount":143},"100375032","optimisation-of-mechanical-insufflationexsufflation-100375032","NCT04163198","Optimisation of Mechanical Insufflation:Exsufflation","Investigating Methods to Improve Secretion Clearance Using Mechanical Insufflation:Exsufflation in Patients With Neuromuscular Disease.","MIE2","Inclusion Criteria:\n\n* Stable or slowly progressive neuromuscular disease\n* Respiratory muscle weakness (FVC \\\u003C60%, snip \\\u003C60%, sleep disordered breathing)\n* Clinical evidence of respiratory secretions or cough peak expiratory flow \\\u003C270 and history of lower respiratory tract infection\n* Documented clinical stability by supervising clinician\n\nExclusion Criteria:\n\n* Rapidly progressive neuromuscular disease (such as motor neuron disease)\n* Decompensated respiratory failure (pH \\\u003C 7.35)\n* Pregnancy\n* Aged \\\u003C18\n* Change in ventilator settings in preceding 4 weeks\n* Significant physical or psychiatric co-morbidity that would prevent compliance with trial protocol",{"count":106,"type":71},[154],"NA","Patients with neuromuscular diseases (NMD) can suffer from a range of respiratory problems due to respiratory muscle weakness. Cough muscle weakness means secretion clearance from the airways can be problematic, a source of infection, and importantly a cause of death, in this patient group. Therefore, these patients are often supported with devices to aid clearance, such as mechanical insufflation-exsufflation (MIE). Although evidence supports the use of these devices, the optimal technique or settings on the device are not clear. Increasingly, higher pressures are used during MIE and recent work has demonstrated that there may be a physiological benefit to this. However, higher pressures increase the risk of causing lung collapse and may cause detriment to blood flow back to the heart, which is important as NMD patients frequently have concurrent heart muscle weakness. Further, recent work has demonstrated that higher pressures can cause closure of the throat, which is counter-productive in secretion clearance.\n\nThe overall aim of this study is to investigate methods to manipulate MIE to improve secretion clearance in patients with NMD. The questions it seeks to answer are:\n\n(i) how can we maximally improve lung recruitment during inspiration, whilst maintaining patient comfort and lower pressures (ii) what is the smallest pressure difference required in expiration to achieve an improvement in cough (iii) do these proposed changes to MIE also cause throat closure (iv) what factors do patients believe contribute to their adherence to MIE therapy?\n\nPatients with slowly progressive or stable neuromuscular diseases will be included in the study. Participation will involve two visits to the Lane Fox Respiratory Unit, each lasting approximately four hours. Patients will be recruited from specialist neuromuscular respiratory clinics by their clinical teams.",[25],{"date":110,"type":54},{"date":139,"type":54},{"date":160,"type":71},"2027-02-28",{"name":118,"class":119},{"id":163,"slug":164,"hasResults":12,"nctId":165,"briefTitle":166,"officialTitle":166,"acronym":167,"eligibilityCriteria":168,"healthyVolunteers":169,"sex":102,"minAge":170,"maxAge":171,"enrollmentInfo":172,"targetDuration":4,"studyType":72,"phases":174,"briefSummary":175,"conditions":176,"keywords":179,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":184,"lastUpdatePostDateStruct":185,"startDateStruct":187,"completionDateStruct":189,"leadSponsor":191,"locationsCount":143},"100530718","does-the-coaching-function-improve-the-learning-of-mechanical-in-exsufflation-mi-e-in-paediatric-subjects-100530718","NCT06190431","Does the Coaching Function Improve the Learning of Mechanical In-exsufflation (MI-E) in Paediatric Subjects?","MI-Ecoaching","Part 1:\n\n* Inclusion criteria\n\n  * Age 6-12 (F\u002FM)\n  * Acceptance of consent (child + 2 parents)\n  * Non-smoker\n  * Speak and understand French\n  * Schooling in mainstream education\n* Exclusion criteria\n\n  * Comorbidities: congenital heart disease, chronic lung disease, immune deficiency, neuromuscular disease, neurological disease or multiple disabilities\n  * History or clinical signs of disease affecting lung function, recent lung infection, spinal or thoracic deformity.\n\nPart 2:\n\n* Inclusion criteria\n\n  * Age 6-12 (F\u002FM)\n  * Acceptance of consent (child + 2 parents)\n  * Non-smoker\n  * Speak and understand French\n  * Patient with a neuromuscular disease\n  * Able to perform the MI-E maneuver\n* Exclusion criteria\n\n  * Hemodynamic instability\n  * Current or recent pneumothorax\n  * Hemoptysis",true,"6 Years","12 Years",{"count":173,"type":71},40,[154],"The use of mechanical insufflation-exsufflation (MI-E) in children with neuromuscular diseases (NMD) is recommended by international guidelines and societies and well documented. Many authors have shown that MI-E is safe and effective for airway clearance and has a significant benefit in reducing the duration of the airway clearance session in children with respiratory infections and atelectasis or in the postoperative period. However, its use in paediatrics is still poorly supervised and learning the technique is too often therapist- and\u002For patient-dependent. The use of a protocol or means of help to guide the initiation and learning of MI-E would allow better use, better adaptation of the settings and potentially better compliance with the treatment. The aim of this study is to test whether the use of a coaching module (playful visual stimulation) in addition to guidance by a physiotherapist improves the learning and effectiveness of the technique compared to guidance alone.This randomized controlled study will first include healthy children, aged 6 to 12 years, with no history or recent respiratory infection affecting lung function or other chronic diseases. In a second phase, the investigators will test the use of the learning process in children with neuromuscular diseases. The investigators hope that the results of this study will provide a better framework for the learning and effectiveness of MI-E. Furthermore, if the results are positive, this will allow better support for the use of MI-E in chronic treatments and help to ensure that this costly treatment for hospitals and public health is used efficiently.",[177,178,25],"Cough","Airway Clearance Impairment",[180,181,182,183],"Mechanical In-Exsufflation","Coaching","Cough Assistance","Pediatric","2026-05-29",{"date":186,"type":54},"2026-06-01",{"date":188,"type":54},"2023-11-20",{"date":190,"type":71},"2026-05-31",{"name":192,"class":119},"Cliniques universitaires Saint-Luc- Université Catholique de Louvain",{"id":194,"slug":195,"hasResults":12,"nctId":196,"briefTitle":197,"officialTitle":198,"acronym":199,"eligibilityCriteria":200,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":201,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":203,"conditions":204,"keywords":209,"overallStatus":217,"whyStopped":4,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":221,"completionDateStruct":222,"leadSponsor":223,"locationsCount":143},"100640793","physical-activity-level-at-home-in-cmt1a-patients-wearable-sensor-assessment-100640793","NCT07591779","Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment","Study of the Relationship Between Clinical and Functional Characteristics of Patients With CMT1A Disease and Their Level of Physical Activity at Home Measured Using Portable Electronic Sensors","CMT1A-HOME","Inclusion Criteria:\n\n1. Age ≥ 18 years\n2. Genetically confirmed diagnosis of CMT1A (PMP22 duplication on chromosomal analysis)\n3. Followed at the National Reference Centre for Rare Peripheral Neuropathies (Service de Neurologie, CHU de Limoges) and\u002For having undergone gait analysis at the Quantified Movement Analysis Laboratory (Laboratoire d'AQM), Service de Médecine Physique et de Réadaptation, CHU de Limoges\n4. Ability to walk independently (with or without walking aids)\n5. Informed consent obtained\n6. Affiliated to French social security system\n\nExclusion Criteria:\n\n1. Other associated neurological condition that could independently affect walking or motor activity\n2. Inability to wear the sensor device (skin allergy, sensory intolerance)\n3. Inability to comply with study procedures (cognitive impairment, no fixed domicile)\n4. Participation in another interventional study during the same period\n5. Pregnant or breastfeeding women\n6. Patients under legal protection (guardianship or curatorship)",{"count":202,"type":71},60,"Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common hereditary peripheral neuropathy, affecting approximately 26,000 patients in France. It presents as chronic and progressive sensorimotor deficits predominantly affecting the distal lower limbs, with onset typically in childhood. There is currently no specific pharmacological treatment; management remains symptomatic.\n\nThis research will:\n\nIn the long run, validated wearable sensors could improve patient follow-up, personalize rehabilitation, and support the design of clinical trials for CMT1A - including trials of the novel \"Nano-Cur\" treatment currently under development.",[205,206,207,208,25],"Charcot-Marie-Tooth Disease, Type IA","Peripheral Neuropathy Hereditary","Motor Activity","Walking, Difficulty",[210,211,212,213,214,215,216],"CMT1A","wearable sensor","actigraphy","physical activity","CMT-FOM","functional assessment","peripheral neuropathy","NOT_YET_RECRUITING","2026-05-20",{"date":220,"type":54},"2026-05-22",{"date":186,"type":71},{"date":90,"type":71},{"name":224,"class":119},"University Hospital, Limoges",{"id":226,"slug":227,"hasResults":12,"nctId":228,"briefTitle":229,"officialTitle":230,"acronym":4,"eligibilityCriteria":231,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":232,"enrollmentInfo":233,"targetDuration":4,"studyType":72,"phases":234,"briefSummary":236,"conditions":237,"keywords":256,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":273,"lastUpdatePostDateStruct":274,"startDateStruct":276,"completionDateStruct":278,"leadSponsor":280,"locationsCount":58},"100567749","phase-3-a-phase-3-study-of-ntla-2001-in-attrv-pn-100567749","NCT06672237","A Phase 3 Study of NTLA-2001 in ATTRv-PN","MAGNITUDE-2: A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of NTLA-2001 in Participants With Hereditary Transthyretin Amyloidosis With Polyneuropathy (ATTRv-PN)","Inclusion Criteria:\n\n* Diagnosis of ATTRv-PN\n* Karnofsky Performance Status (KPS) ≥ 60\n\nExclusion Criteria:\n\n* Other causes of amyloidosis (amyloidosis caused by non-TTR protein)\n* Other known causes of sensorimotor or autonomic neuropathy\n* Diabetes mellitus\n* New York Heart Association Class III or IV heart failure\n* Liver failure\n* Hepatitis B, hepatitis C or human immunodeficiency virus (HIV) infection\n* Prior receipt of a TTR silencer (Small interfering RNA (siRNA) or Antisense oligonucleotides (ASOs))\n* Estimated Glomerular Filtration Rate \\\u003C 30 mL\u002Fmin\u002F1.73 m2\n* Unable or unwilling to take vitamin A supplementation for the duration of the study\n* History of liver disease","85 Years",{"count":202,"type":71},[235],"PHASE3","This study will be conducted to evaluate the efficacy and safety of a single dose of nexiguran ziclumeran (NTLA-2001) compared to placebo in participants with ATTRv-PN.",[238,239,240,241,242,25,243,244,26,245,246,247,248,249,250,251,252,253,254,255],"Neuromuscular Disease","Neuromuscular Diseases (NMD)","Neurodegenerative Disease","Neurodegenerative Disease, Hereditary","Neurodegenerative Diseases","Nerve Disorders","Nervous System Disease","Genetic Disease, Inborn","Amyloidosis, Familial","Amyloidosis, Hereditary","Amyloidosis","Polyneuropathies","Amyloid Neuropathies","Amyloid Neuropathies, Familial","Peripheral Nervous System Disease","Peripheral Nervous System Diseases","Metabolism, Inborn Errors","Metabolic Diseases",[257,248,258,259,260,261,262,263,264,265,266,267,268,269,270,271,272],"TTR","Polyneuropathy","NTLA-2001","ATTR","ATTR-PN","ATTRv-PN","Transthyretin","TTR-mediated amyloidosis","Amyloidosis, hereditary","Amyloidosis, hereditary, transthyretin-related amyloidosis","Transthretin amyloid polyneuropathy","TTR PN","TTR polyneuropathy","nexiguran ziclumeran","nex-z","CRISPR","2026-04-13",{"date":275,"type":54},"2026-04-16",{"date":277,"type":54},"2024-11-22",{"date":279,"type":71},"2028-08",{"name":281,"class":57},"Intellia Therapeutics",{"id":283,"slug":284,"hasResults":12,"nctId":285,"briefTitle":286,"officialTitle":286,"acronym":287,"eligibilityCriteria":288,"healthyVolunteers":12,"sex":102,"minAge":289,"maxAge":290,"enrollmentInfo":291,"targetDuration":4,"studyType":72,"phases":293,"briefSummary":294,"conditions":295,"keywords":302,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":309,"lastUpdatePostDateStruct":310,"startDateStruct":312,"completionDateStruct":314,"leadSponsor":316,"locationsCount":143},"100443196","respiratory-muscles-and-work-of-breathing-in-children-100443196","NCT05051254","Respiratory Muscles and Work of Breathing in Children","WOB&MR_Ped","Inclusion Criteria:\n\n* Patients aged less than 18 years old with primary or secondary impairment of respiratory muscles and followed at Necker Hospital\n* Patients under spontaneous breathing or noninvasive or invasive mechanical ventilation\n* Written informed consent\n\nExclusion Criteria:\n\n* No social insurance\n* Significant psychomotor retardation\n* Absence of cooperation\n* Significant agitation\n* Hemodynamic instability\n* Acute condition or temporary drug treatments that may interfere with the results of the respiratory muscle explorations","0 Years","17 Years",{"count":292,"type":71},550,[154],"Respiratory muscle testing allows a quantitative assessment of inspiratory and expiratory muscles in children of any age with primary or secondary respiratory muscle impairment, in order to better understand the pathophysiology of respiratory impairment and guide therapeutic management. The use of an invasive technique (esogastric probe) makes it possible to specifically explore the diaphragm, the accessory inspiratory muscles and the expiratory muscles in order to detect dysfunction or paralysis of these muscles, and to estimate the work of breathing in order to better guide the respiratory management.\n\nThe primary objective of the study is to evaluate the respiratory effort in children with primary or secondary impairment of the respiratory muscles during spontaneous breathing or during mechanical ventilation.",[25,296,297,298,299,300,301],"Congenital Diaphragmatic Hernia","Lung Diseases","Cardiac Diseases","Scoliosis","Diaphragmatic Impairment","Respiratory Muscle Impairment",[303,304,305,306,307,308],"Respiratory muscle testing","Respiratory muscle strength","Work of breathing","Esogastric pressures","Diaphragmatic dysfunction","Diaphragmatic paralysis","2026-03-30",{"date":311,"type":54},"2026-04-03",{"date":313,"type":54},"2022-01-19",{"date":315,"type":71},"2028-01",{"name":317,"class":119},"Assistance Publique - Hôpitaux de Paris",{"id":319,"slug":320,"hasResults":12,"nctId":321,"briefTitle":322,"officialTitle":323,"acronym":324,"eligibilityCriteria":325,"healthyVolunteers":12,"sex":102,"minAge":4,"maxAge":4,"enrollmentInfo":326,"targetDuration":18,"studyType":130,"phases":4,"briefSummary":328,"conditions":329,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":338,"lastUpdatePostDateStruct":339,"startDateStruct":341,"completionDateStruct":343,"leadSponsor":345,"locationsCount":347},"100558657","spastic-paraplegia---centers-of-excellence-research-network-100558657","NCT06553976","Spastic Paraplegia - Centers of Excellence Research Network","Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot","SP-CERN","Inclusion Criteria:\n\n* Male or female patients of all ages with a clinical and molecular diagnosis of hereditary spastic paraplegia type 4 (SPG4, SPAST) or hereditary spastic paraplegia type 5A (SPG5A, CYP7B1).\n\nExclusion Criteria:\n\n* Not having such a diagnosis and\u002For not being related to such individual.",{"count":327,"type":71},100,"The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). Aims of the consortium are to a) perform natural history studies of HSP subtypes, b) discover and validate biomarkers and clinician- and patient-reported outcome measures, c) uncover HSP's molecular pathophysiology and develop rational therapeutic targets, and d) perform sufficiently powered clinical trials. The current pilot study is aimed at enrolling 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A).",[330,331,332,333,334,335,336,25,337],"Hereditary Spastic Paraplegia","Primary Lateral Sclerosis","SPG4","SPG5A","Spastic Paraplegia 4","Spastic Paraplegia 5A","Early Onset Hereditary Spastic Paraplegia","Spastic Paraplegia, Hereditary","2026-03-16",{"date":340,"type":54},"2026-03-18",{"date":342,"type":54},"2024-06-04",{"date":344,"type":71},"2027-06-04",{"name":346,"class":119},"Boston Children's Hospital",11,{"id":349,"slug":350,"hasResults":12,"nctId":351,"briefTitle":352,"officialTitle":353,"acronym":354,"eligibilityCriteria":355,"healthyVolunteers":169,"sex":102,"minAge":356,"maxAge":4,"enrollmentInfo":357,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":358,"conditions":359,"keywords":360,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":364,"lastUpdatePostDateStruct":365,"startDateStruct":367,"completionDateStruct":369,"leadSponsor":371,"locationsCount":143},"100522546","measuring-physical-activity-with-activpal-100522546","NCT06084026","Measuring Physical Activity With ActivPal","Measuring Physical Activity Levels and Intensity Using an ActivPal™ Accelerometer in Adult and Pediatric Populations With Neuromuscular Diseases","Activpal","Inclusion Criteria:\n\n* Patients with a clinically or genetically confirmed neuromuscular disorder\n* Control subjects who do not have a neuromuscular disease.\n* Participants at least 1 years of age.\n\nExclusion Criteria:\n\n* Participant has a condition, which in the opinion of the Investigator may compromise safety\n* Participant has a condition, which in the opinion of the Investigator may compromise or compliance","1 Year",{"count":173,"type":71},"This study measures the level of physical activity in participants with neuromuscular disorders. The patient wears a small button like meter on their leg for a period of 1 week every 6 months over a period of 3 years. Participants will also have a physical exam, six minute walk test,vital signs and questionnaires.",[25],[361,362,363],"muscle weakness","muscle","neuromuscular","2026-01-22",{"date":366,"type":54},"2026-01-23",{"date":368,"type":54},"2020-11-01",{"date":370,"type":71},"2026-08-31",{"name":372,"class":119},"Columbia University",{"id":374,"slug":375,"hasResults":12,"nctId":376,"briefTitle":377,"officialTitle":377,"acronym":378,"eligibilityCriteria":379,"healthyVolunteers":12,"sex":102,"minAge":4,"maxAge":4,"enrollmentInfo":380,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":382,"conditions":383,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":386,"lastUpdatePostDateStruct":387,"startDateStruct":388,"completionDateStruct":390,"leadSponsor":392,"locationsCount":394},"100527733","a-prospective-natural-history-and-outcome-measure-discovery-study-of-charcot-marie-tooth-disease-type-4j-100527733","NCT06151600","A Prospective Natural History and Outcome Measure Discovery Study of Charcot-Marie-Tooth Disease, Type 4J","CMT4J","Inclusion Criteria:\n\n1. Male or female, all ages\n2. A molecularly-confirmed diagnosis of CMT4J (confirmed by a CLIA certified, CE-marked, or equivalent lab): Genomic DNA mutation analysis demonstrating 1) bi-allelic pathogenic and\u002For likely pathogenic variants (by ACMG criteria) in the FIG4 gene, or 2) bi-allelic variants with one pathogenic and\u002For likely pathogenic variant in trans with a variant of uncertain significance if laboratory evidence and expert consensus exits in support of loss of FIG4 function exists.\n3. Informed consent from patients 18 years or older who are able to provide consent and from caregivers; parent(s)\u002Fguardian(s) providing consent for subjects younger than 18 years at Screening and patients older than 18 years unable to provide informed consent\n4. Informed assent of patients younger than 18 years at Screening who are able to provide assent\n5. Able and willing to comply with the study protocol, including travel to Study Center, procedures, measurements and visits\n\nExclusion Criteria:\n\n1. Any known genetic abnormality, including chromosomal aberrations that confound the clinical phenotype\n2. Current participation in an interventional or therapeutic study\n3. Receiving an investigational drug within 90 days of the Baseline Visit\n4. Prior or current treatment with gene or stem cell therapy\n5. Any other diseases which may significantly interfere with the assessment of CMT4J\n6. Have any other conditions, which, in the opinion of the Investigator or Sponsor would make the subject unsuitable for inclusion or could interfere with the subject participating in or completing the study",{"count":381,"type":71},20,"This is a multicenter, longitudinal, prospective observational natural history study of subjects with a molecularly confirmed diagnosis of CMT4J. The study will enroll 20 subjects of any age into a uniform protocol for follow-up and evaluations. Subject visits will occur every 12 months + 4 weeks for up to 2 years.",[384,385,25],"Peripheral Neuropathy","Neuro-Degenerative Disease","2026-01-20",{"date":364,"type":54},{"date":389,"type":54},"2024-07-29",{"date":391,"type":71},"2032-03-01",{"name":393,"class":57},"Elpida Therapeutics SPC",3,{"id":396,"slug":397,"hasResults":12,"nctId":398,"briefTitle":399,"officialTitle":400,"acronym":401,"eligibilityCriteria":402,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":403,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":404,"conditions":405,"keywords":406,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":408,"lastUpdatePostDateStruct":409,"startDateStruct":411,"completionDateStruct":413,"leadSponsor":415,"locationsCount":143},"100499621","polygraphy-at-home-for-neuromuscular-patients-under-non-invasive-mechanical-ventilation-100499621","NCT05785637","Polygraphy at Home for Neuromuscular Patients Under Non-invasive Mechanical Ventilation","Initiation of Polygraphy for Neuromuscular Disease Patients Under Non-invasive Mechanical Ventilation","HPforNIV","Inclusion Criteria:\n\n* Patient ≥ 18 years;\n* Patient with chronic respiratory insufficiency has just been posed non-invasive ventilation (NIV) in the hospital, according to the latest international recommendations ;\n* Affiliation to the social security scheme;\n* Patient has signed the informed consent form to participate to the study.\n\nExclusion Criteria:\n\n* Patient refusal;\n* Patient under guardianship;\n* Patient under AME scheme;\n* Patients living more than 40 km from reference center;\n* Patient depending on mechanical ventilation (more than 6 hours daily);\n* Rapidly or reversible evolutive neuro-myopathy (Amyotrophic lateral sclerosis, Guillain Barré syndrome, myasthenia).",{"count":7,"type":71},"The primary objective of the study is to evaluate the feasibility, the quality and the utility of a polygraphic control at home in order to appreciate the efficacy of the night time non-invasive ventilation (allowing to optimize the ventilator settings when the results are not satisfactory).",[25],[25,407],"Polygraphy","2025-11-19",{"date":410,"type":54},"2025-11-24",{"date":412,"type":54},"2024-03-08",{"date":414,"type":71},"2026-03",{"name":317,"class":119},{"id":417,"slug":418,"hasResults":12,"nctId":419,"briefTitle":420,"officialTitle":420,"acronym":4,"eligibilityCriteria":421,"healthyVolunteers":169,"sex":102,"minAge":422,"maxAge":290,"enrollmentInfo":423,"targetDuration":4,"studyType":72,"phases":424,"briefSummary":425,"conditions":426,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":408,"lastUpdatePostDateStruct":428,"startDateStruct":430,"completionDateStruct":432,"leadSponsor":434,"locationsCount":143},"100274346","non-invasive-respiratory-monitor-100274346","NCT02851043","Non-Invasive Respiratory Monitor","Inclusion Criteria:\n\n* Healthy volunteers\n* Neuromuscular disease subjects with mild breathing difficulty\n* Capable of following verbal instructions\n\nExclusion Criteria:\n\n* Severe breathing difficulties","11 Years",{"count":381,"type":71},[154],"This study will clinically evaluate a newly developed respiratory monitor - pneuRIP. The pneuRIP uses Respiratory Inductance Plethysmography (RIP) bands to measure key breathing indices non-invasively. This study compares the pneuRIP to an existing Respitrace system (Carefusion, Yorba Linda CA). 10 normal children and 10 children with breathing difficulties will be monitored with both systems.",[25,427],"Healthy Volunteers",{"date":429,"type":54},"2025-11-21",{"date":431,"type":54},"2014-08",{"date":433,"type":71},"2026-12",{"name":435,"class":119},"Nemours Children's Clinic",{"id":437,"slug":438,"hasResults":12,"nctId":439,"briefTitle":440,"officialTitle":441,"acronym":4,"eligibilityCriteria":442,"healthyVolunteers":169,"sex":102,"minAge":443,"maxAge":444,"enrollmentInfo":445,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":447,"conditions":448,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":454,"lastUpdatePostDateStruct":455,"startDateStruct":457,"completionDateStruct":459,"leadSponsor":461,"locationsCount":143},"100346933","genesis-electrical-impedance-tomography-eit-a-preliminary-study-100346933","NCT03797183","Genesis Electrical Impedance Tomography (EIT): A Preliminary Study","The Associations Between EIT and Clinical Measures During Standard of Care Procedures in Patients With Respiratory Disease: A Preliminary Study","Inclusion Criteria:\n\n* 2 weeks old - 40 years old\n* Premature infants with current age \\>2 weeks with a confirmed diagnosis of BPD based on NIH criteria\n* Or Chronic respiratory disease due to underlying neuromuscular disease\n* Or confirmed neuromuscular disease with an echo completed within the preceding 12 months of study participation of DMD or other diagnoses associated with mild cardiomyopathy.\n* have had a VQ scan\n* will be undergoing cardiac catherization for for pulmonary vein stenosis, pulmonary hypertension and\u002For pulmonary artery stenosis\n* Or healthy controls\n\nExclusion Criteria:\n\n* \\\u003C2 weeks of age\n* Congenital diaphragmatic hernia\n* Severe congenital heart disease\n* Significant genetic abnoralities\n* Anything that interferes with lead placement on the chest wall\n* Unwilling\u002Frefusal to sign consent\n* Pregnant or lactating\n* Pacemaker of other surgical implant and spinal implant (causes noise in the data)\n* Moderate to severe cardiomyopathy\n* Patients with temporary cognitive disability due to illness","14 Days","40 Years",{"count":446,"type":71},90,"The purpose of this study is to evaluate the Genesis Electrical Impedance Tomography (EIT) imaging system for use in pediatric respiratory disease populations including neuromuscular and bronchopulmonary dysplasia, as well as in age and height matched controls. The EIT does not use radiation, and is read through electrodes.",[449,450,25,451,452,453],"Premature Infant","Chronic Respiratory Disease","Healthy","Bronchopulmonary Dysplasia","Pulmonary Vein Stenoses","2025-11-11",{"date":456,"type":54},"2025-11-13",{"date":458,"type":54},"2019-05-03",{"date":460,"type":71},"2026-11",{"name":462,"class":119},"University of Colorado, Denver",{"id":464,"slug":465,"hasResults":12,"nctId":466,"briefTitle":467,"officialTitle":468,"acronym":469,"eligibilityCriteria":470,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":471,"enrollmentInfo":472,"targetDuration":4,"studyType":72,"phases":473,"briefSummary":474,"conditions":475,"keywords":479,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":483,"lastUpdatePostDateStruct":484,"startDateStruct":486,"completionDateStruct":488,"leadSponsor":490,"locationsCount":143},"100532037","investigation-on-the-cortical-communication-system-100532037","NCT06207591","Investigation on the Cortical Communication System","Investigation on the Cortical Communication (CortiCom) System","CortiCom","Inclusion Criteria:\n\n* 18-70 years\n* Clinical diagnosis of locked-in state state or likelihood of soon progressing into LIS (within an estimated 2 years), caused by traumatic brain injury, brainstem stroke, neurodegenerative disease, neuromuscular disease or another cause\n* • Current or imminent complete or incomplete tetraplegia (quadriplegia) or tetraparesis (quadriparesis)\n* • Current or imminent motor-related speech impairment (dysarthria or anarthria)\n* Either receiving tracheostomy invasive ventilation, or having a stable and adequate respiratory situation without respiratory support, allowing for safe intubation, mechanical ventilation and detubation during surgery according to the involved clinicians, and, if relevant (e.g., in case of a progressive condition), in combination with a confirmed desire to receive tracheostomy invasive ventilation when that becomes necessary\n* Meeting surgical safety criteria, including surgical clearance by the study physicians\n* Meeting (neuro)psychological evaluation criteria\n* Ability to communicate reliably, such as through eye movement\n* Willingness and ability to provide informed consent\n* Lives within reasonable distance from University Medical Center Utrecht\n* Participant consents to the study and still wishes to participate at the time of the study\n* Vision and hearing largely intact\n\nExclusion Criteria:\n\n* Performance on formal neuropsychological testing that indicates a significant current or recent psychiatric disorder, cognitive or behavioral impairment, that would interfere with obtaining informed consent or fully participating in study activities\n* Medical conditions contraindicating surgery of a chronically implanted device or that could interfere with study participation (for example active infections, unexplained fever, existing scalp lesions or skin breakdown, osteomyelitis, hepatitis, any autoimmune disease\u002Fdisorder, epilepsy, skin disorders causing excessive skin sloughing or poor wound healing, cranioplasty, significant cardiovascular, metabolic, or renal impairments, chronic oral or intravenous use of steroids or immunosuppressive therapy, active cancer within the past year or requires chemotherapy, uncontrolled autonomic dysreflexia within the past 3 months, hydrocephalus with or without an implanted ventricular shunt or a medical contraindication to stop anti-coagulant medications during surgery)\n* Presence of pre-surgical findings in anatomical, functional, and\u002For vascular neuroimaging that makes achieving implant locations too challenging or incompatible with desired risk levels\n* Inability to undergo MRI for pre-implantation evaluation, for example due to the presence of implanted devices that are incompatible with MRI, which may include pacemakers, cardiac defibrillators, spinal cord or vagal nerve stimulators, deep brain stimulators, and cochlear implants\n* Anticipated need for MRI after implantation of the CortiCom assembly","70 Years",{"count":120,"type":71},[154],"The goal of this clinical trial is to demonstrate communication through a brain implant in people in locked-in state, i.e. people with severe paralysis and communication problems.\n\nThe main questions it aims to answer are efficient and stable control of Brain-Computer interface (BCI) functions for communication with attempted hand movements and operation of a keyword-based speech BCI.\n\nParticipants will be implanted with four electrode grids, with in total 128 electrodes, on the surface of the brain and a connector on the skull. Participation includes visits of researchers for recording and training at home, 2-3 times per week for one year. Extension of participation after one year is possible.\n\nIf successful, the participant will be able to use the BCI at home independently, without the presence of a researcher.",[476,25,477,478],"Locked-in Syndrome","Brainstem Stroke","Traumatic Brain Injury",[480,481,482],"Locked-in","Amyotrophic lateral sclerosis","Neurodegenerative disease","2025-09-29",{"date":485,"type":54},"2025-10-03",{"date":487,"type":54},"2023-12-15",{"date":489,"type":71},"2029-09",{"name":491,"class":119},"UMC Utrecht",{"id":493,"slug":494,"hasResults":12,"nctId":495,"briefTitle":496,"officialTitle":496,"acronym":497,"eligibilityCriteria":498,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":499,"targetDuration":4,"studyType":72,"phases":501,"briefSummary":502,"conditions":503,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":514,"lastUpdatePostDateStruct":515,"startDateStruct":517,"completionDateStruct":519,"leadSponsor":521,"locationsCount":143},"100603463","gait-analysis-parameter-and-upper-limb-evaluation-in-adult-patients-with-neurological-or-metabolic-pathology-100603463","NCT07136844","Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology","Acti-Adult","Inclusion Criteria:\n\n* Ambulant patients (i.e. able to walk 10 meters without assistance)\n* Confirmed diagnosis by the investigator based on current gold standard in his\u002Fher disease (genetic testing, clinical criteria, etc.)\n\n  * Myotonic dystrophy type 1 (DM1) and Charcot-Marie-Tooth (CMT) patients should present sensitive of motor signs on physical examination.\n  * Myasthenic patients should be seropositive, and Myasthenia Gravis Foundation of America (MGFA) class II to IV.\n  * Patient with morbid obesity (Body Mass Index\\> or = 35 at inclusion visit).\n* Signed informed consent form by patient him\u002Fherself and patient willing and able to comply with all study procedures.\n\nExclusion Criteria:\n\n* Non-ambulant patients\n* Patients with extreme cognitive disorders that limit their understanding of the exercises to be performed\n* Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs\n* A concomitant chronic or acute neurological, endocrine, infectious, allergic, or inflammatory pathology within the 3-week period immediately prior to inclusion\n* Patients who are participating in an interventional clinical trial\n* Pregnant or breastfeeding women",{"count":500,"type":71},300,[154],"The ActiLiège-Adult study is a prospective, longitudinal, observational study designed to collect natural history data on adult patients with neurological or metabolic diseases affecting movement. Conducted at the Centre de Référence Liégeois des Maladies Neuromusculaires in Liège, Belgium, the study will enroll 300 ambulant patients, including individuals with neuromuscular disorders and obesity. Using the Syde® wearable device, the study aims to continuously monitor motor function in real-life settings over a period of up to two years. The primary objective is to evaluate the utility of digital mobility outcomes, such as the 95th centile of stride velocity (SV95C), as reliable and objective endpoints for future clinical trials.",[25,504,505,506,507,508,509,510,511,512,330,513],"Obesity (Disorder)","Myotonic Dystrophy 1","Myasthenic Syndrome","Charcot Marie Tooth Disease (CMT)","Glycogen Storage Disease Type II Pompe Disease","Facio-Scapulo-Humeral Dystrophy","Myasthenia Gravis","Huntington Disease","Progressive Supranuclear Palsy (PSP)","Ataxia, Spinocerebellar","2025-08-14",{"date":516,"type":54},"2025-08-22",{"date":518,"type":54},"2024-03-29",{"date":520,"type":71},"2030-12",{"name":522,"class":119},"Centre Hospitalier Universitaire de Liege",{"id":524,"slug":525,"hasResults":12,"nctId":526,"briefTitle":527,"officialTitle":528,"acronym":529,"eligibilityCriteria":530,"healthyVolunteers":169,"sex":102,"minAge":4,"maxAge":531,"enrollmentInfo":532,"targetDuration":534,"studyType":130,"phases":4,"briefSummary":535,"conditions":536,"keywords":539,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":543,"lastUpdatePostDateStruct":544,"startDateStruct":546,"completionDateStruct":548,"leadSponsor":550,"locationsCount":143},"100472645","cimr-neuromuscular-research-biobank-100472645","NCT05434572","CIMR Neuromuscular Research Biobank","Center for Inherited Muscle Research Neuromuscular Research Biobank","NRB-0001","Inclusion Criteria:\n\n* Willing and able to give informed consent\n* Positive diagnosis or suspected diagnosis of neuromuscular disease, or\n* Family history of neuromuscular disease, or\n* Healthy volunteer\n* Age Neonates-75\n\nExclusion Criteria:\n\n* Unwilling to sign consent","75 Years",{"count":533,"type":71},500,"1 Day","The purpose of this research repository is to collect, store, and share with other researchers any tissues that subjects with all types of neuromuscular disease are willing to donate. These samples will be stored at Virginia Commonwealth University (VCU) and will be used for future research with this population.",[25,537,538],"Neuromuscular Disorder","Neuromuscular Diseases in Children",[540,541,542,537],"Neuromuscular","Research Repository","Biobank","2025-07-01",{"date":545,"type":54},"2025-07-04",{"date":547,"type":54},"2021-03-17",{"date":549,"type":71},"2030-02",{"name":551,"class":119},"Virginia Commonwealth University",{"id":553,"slug":554,"hasResults":12,"nctId":555,"briefTitle":556,"officialTitle":557,"acronym":558,"eligibilityCriteria":559,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":560,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":562,"conditions":563,"keywords":575,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":579,"lastUpdatePostDateStruct":580,"startDateStruct":582,"completionDateStruct":584,"leadSponsor":586,"locationsCount":588},"100358354","the-role-of-concomitant-diseases-in-postoperative-complications-risk-stratification-100358354","NCT03945968","The Role of Concomitant Diseases in Postoperative Complications Risk Stratification.","The Role of Concomitant Diseases in Postoperative Complications Risk Stratification - a Prospective Observational Multi-center Cohort Study","STOPRISK","Inclusion Criteria:\n\n* surgical interventions on the abdominal organs,\n* 1-3 ASA physical status class\n\nExclusion Criteria:\n\n* the inability to assess the factors included in the study,\n* acute massive blood loss, aspiration,\n* bronchospasm,\n* anaphylactic reactions,\n* malignant hyperthermia",{"count":561,"type":71},16000,"Study is conducted to assess the prevalence and structure of comorbidity among patients undergoing abdominal surgery and produce the stratification of the risk of postoperative complications by identifying independent predictors for its development.",[564,565,566,567,568,569,570,571,25,572,573,133,574],"Coronary Heart Disease","Anemia","Bronchial Asthma","Stroke","Epilepsy","Parkinson's Disease","Heart Rhythm Disorders","Alzheimer's Disease","Diabetes","Chronic Heart Failure","Chronic Kidney Diseases",[576,577,578],"anesthesia","concomitant diseases","risk stratification","2025-04-01",{"date":581,"type":54},"2025-04-04",{"date":583,"type":54},"2019-07-01",{"date":585,"type":71},"2026-02-28",{"name":587,"class":119},"Russian Federation of Anesthesiologists and Reanimatologists",38,{"id":590,"slug":591,"hasResults":12,"nctId":592,"briefTitle":593,"officialTitle":594,"acronym":595,"eligibilityCriteria":596,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":4,"enrollmentInfo":597,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":599,"conditions":600,"keywords":601,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":602,"lastUpdatePostDateStruct":603,"startDateStruct":605,"completionDateStruct":607,"leadSponsor":609,"locationsCount":143},"100499614","elaboration-of-a-pronostic-score-of-changes-on-wheelchairs-seating-system-100499614","NCT05785546","Elaboration of a Pronostic Score of Changes on Wheelchair's Seating System","Wheelchair Seating Users With Neuromuscular Diseases: Elaboration of a Pronostic Score of Changes on the Seating System of the Wheelchair","BPIP-Score MNM","Inclusion Criteria:\n\n* Male or female over the age of 18\n* Daily wheelchair user (more than 4 hours per day)\n* Having a neuromuscular disease such as Duchenne Muscular Dystrophy or Infantile Spinal Muscular Atrophy type II\n* Accompanied by an identified medical equipment provider, able to respond to the recommendations of the clinical team\n* Patient informed and having signed consent.\n\nExclusion Criteria:\n\n* Person who already has a seat change or FR prescription at the time of inclusion\n* Having undergone surgery less than 1 year ago or a fracture\n* Pregnant or breastfeeding women\n* Patient under guardianship or curatorship.",{"count":598,"type":71},368,"Development and validation study of a prognostic score - study of prognostic performance by a prospective longitudinal multicenter cohort spread over 8 centers: 4 for the development cohort and 4 for the validation cohort).",[25],[25],"2025-03-17",{"date":604,"type":54},"2025-03-19",{"date":606,"type":54},"2025-02-19",{"date":608,"type":71},"2028-03",{"name":317,"class":119},{"id":611,"slug":612,"hasResults":12,"nctId":613,"briefTitle":614,"officialTitle":615,"acronym":616,"eligibilityCriteria":617,"healthyVolunteers":12,"sex":102,"minAge":618,"maxAge":4,"enrollmentInfo":619,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":621,"conditions":622,"keywords":623,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":628,"lastUpdatePostDateStruct":629,"startDateStruct":631,"completionDateStruct":633,"leadSponsor":635,"locationsCount":120},"100439789","wheelchair-positioning-and-neuromuscular-diseases-100439789","NCT05006859","Wheelchair Positioning and Neuromuscular Diseases","Wheelchair Positioning and Neuromuscular Diseases Database (Retrospective and Prospective)","BDD-POSIT-MNM","Inclusion Criteria :\n\n* Patient with neuromuscular disease\n* Written informed consent (IC) obtained\n* Adult patients (\\> 18 years) Or\n* Adults under guardianship who has given theirs oral consent and guardian's consent obtained Or\n* Childs who has given theirs oral consent and parents' consent obtained\n* Wheelchair user\n\nExclusion Criteria :\n\n• Patient not seen in positioning consultation by N. Pellegrini and \u002F or E. Dupitierr","8 Years",{"count":620,"type":71},50,"This database will describe sitting postural control in wheelchair, as well as PW pain, and pressure ulcers associated with sitting, in patients with neuromuscular disease (NMD).",[25],[624,625,626,627],"Neuromuscular disease","Postural wheelchair disorders","Wheelchair positioning","Pain","2025-03-10",{"date":630,"type":54},"2025-03-11",{"date":632,"type":54},"2021-05-17",{"date":634,"type":71},"2025-12",{"name":636,"class":119},"Groupement Hospitalier Intercommunal du Vexin",{"id":638,"slug":639,"hasResults":12,"nctId":640,"briefTitle":641,"officialTitle":642,"acronym":4,"eligibilityCriteria":643,"healthyVolunteers":12,"sex":102,"minAge":103,"maxAge":104,"enrollmentInfo":644,"targetDuration":4,"studyType":72,"phases":645,"briefSummary":646,"conditions":647,"keywords":4,"overallStatus":217,"whyStopped":4,"lastUpdateSubmitDate":649,"lastUpdatePostDateStruct":650,"startDateStruct":652,"completionDateStruct":654,"leadSponsor":655,"locationsCount":4},"100579691","efficacy-and-safety-of-efgartigimod-sequential-therapy-with-telitacicept-in-generalized-myasthenia-gravis-100579691","NCT06827587","Efficacy and Safety of Efgartigimod Sequential Therapy with Telitacicept in Generalized Myasthenia Gravis","Efficacy, Safety, and PKPD Study of Efgartigimod Sequential Therapy with Telitacicept in Generalized Myasthenia Gravis (gMG): an Open-label, Randomized Controlled Trial","Inclusion Criteria:\n\n* The patient voluntarily signs the informed consent form.\n* Age ≥18 and ≤80 years, regardless of gender.\n* Meets the diagnostic criteria for Myasthenia Gravis (MG) as per the 2020 China MG Diagnosis and Treatment Guidelines, with serological evidence of positive AChR-Ab.\n* MG Clinical Classification according to the Myasthenia Gravis Foundation of America (MGFA) Staging System: Grade II-IV.\n* Patients with fluctuating MG symptoms before enrollment, as indicated by MG-ADL score ≥6 or Quantitative Myasthenia Gravis score (QMG) ≥8, maintained for more than 24 hours.\n\nExclusion Criteria:\n\n* Coexisting active autoimmune diseases, such as Systemic Lupus Erythematosus (SLE), Rheumatoid Arthritis, Sjögren's Syndrome, etc.\n* Patients with active infections, such as Herpes Zoster, HIV, active Tuberculosis, active Hepatitis.\n* Patients with thymoma who have undergone surgery within the past 6 months.\n* Patients with malignancies other than thymoma.\n* Patients with severe liver or renal dysfunction, defined as: Liver function: ALT or AST \\> 3 ×ULN (upper limit of normal). Renal function: Glomerular filtration rate (GFR) \\\u003C 30 mL\u002Fmin\u002F1.73m².\n* IgG ≤ 400 mg\u002FdL.\n* Patients who have used biologic agents before enrollment and are within 5 half-lives of the drug, such as those who have used Telitacicept within the past 2 months, Efgartigimod within the past 1 month, or Rituximab within the past 6 months.\n* Patients who have received intravenous immunoglobulin (IVIg) or undergone plasmapheresis within the past 2 months before enrollment.\n* Patients who have received any live vaccines within 3 months before the study or plan to receive any vaccines during the study.\n* Pregnant or breastfeeding women, or those planning to conceive during the trial.\n* Patients with allergies to human-derived biologics.\n* Patients who have participated in any clinical trial within the 28 days before enrollment or are within 5 half-lives of the investigational drug used in a prior clinical trial.\n* Other patients deemed unsuitable for enrollment by the investigator (e.g., severe mental disorders).",{"count":202,"type":71},[154],"Title: The Efficacy, Safety, and PK\u002FPD of Efgartigimod Followed by Telitacicept in Generalized Myasthenia Gravis: Protocol of a Randomized Controlled Trial Objective: This study aims to evaluate the efficacy, safety, and pharmacokinetics\u002Fpharmacodynamics (PK\u002FPD) of efgartigimod followed by telitacicept in patients with generalized myasthenia gravis (gMG). Specifically, the trial seeks to determine the optimal treatment strategy for gMG by assessing the effect of sequential biologic therapy on disease management.\n\nStudy Design: This is a multi-center, open-label, randomized controlled trial involving 60 acetylcholine receptor antibody-positive gMG patients.",[510,648,25],"Autoimmune Diseases","2025-02-10",{"date":651,"type":54},"2025-02-14",{"date":653,"type":71},"2025-02",{"date":433,"type":71},{"name":656,"class":119},"First Affiliated Hospital of Wenzhou Medical University",{"id":658,"slug":659,"hasResults":12,"nctId":660,"briefTitle":661,"officialTitle":662,"acronym":4,"eligibilityCriteria":663,"healthyVolunteers":169,"sex":102,"minAge":18,"maxAge":4,"enrollmentInfo":664,"targetDuration":4,"studyType":72,"phases":665,"briefSummary":666,"conditions":667,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":649,"lastUpdatePostDateStruct":668,"startDateStruct":670,"completionDateStruct":672,"leadSponsor":673,"locationsCount":143},"100549881","controlled-study-of-upper-and-lower-limb-movements-in-patients-patients-with-pathologies-that-have-an-impact-on-ambulation-or-motor-function-100549881","NCT06439823","Controlled Study of Upper and Lower Limb Movements in Patients Patients with Pathologies That Have an Impact on Ambulation or Motor Function","Controlled Study of Upper and Lower Limb Movements in Patients Patients with Pathologies That Have an Impact on Ambulation or Motor Function to Validate Signal Analysis Algorithms for Wearable Devices Using Magneto-inertial Technology","Inclusion Criteria:\n\n* Subjects over 2 years old\n* Male or female\n* Control subjects with no pathologies that have an impact on ambulation or motor function.\n* Signed informed consent and, in the case of minors, informed consent signed by the person with parental authority\u002Fguardian\n\nExclusion Criteria:\n\n* Any other previous or present pathology having an impact on current motor or balance function\n* Recent surgery or trauma to upper or lower limbs, or major surgery or trauma within 6 months of inclusion.\n* For control subjects, athlete of at least national level.\n* Pregnant or breast-feeding women",{"count":129,"type":71},[154],"The main aim of the study is to validate the algorithms developed to analyze the signals from the various sensors contained in the magneto-inertial control units and reconstruct upper and lower limb movements under different normal and pathological conditions.",[25],{"date":669,"type":54},"2025-02-12",{"date":671,"type":54},"2022-08-24",{"date":279,"type":71},{"name":674,"class":119},"Laurent Servais",{"id":676,"slug":677,"hasResults":12,"nctId":678,"briefTitle":679,"officialTitle":680,"acronym":4,"eligibilityCriteria":681,"healthyVolunteers":12,"sex":102,"minAge":4,"maxAge":103,"enrollmentInfo":682,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":684,"conditions":685,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":649,"lastUpdatePostDateStruct":686,"startDateStruct":687,"completionDateStruct":689,"leadSponsor":691,"locationsCount":143},"100549816","msot-as-non-invasive-biomarker-for-diagnosis-and-monitoring-of-neuromuscular-diseases-100549816","NCT06438965","MSOT as Non-invasive Biomarker for Diagnosis and Monitoring of Neuromuscular Diseases","Multispectral Optoacoustic Imaging (MSOT) as Non-invasive Biomarker for Diagnosis and Monitoring of Neuromuscular Diseases (MSOT-NMD)","Inclusion Criteria:\n\nPatients with neuromuscular disease\n\n* Children (from birth (infants that are born term) to 18 years of age) participants or consent through authorized guardian\n* Confirmed or suspected diagnosis of a neuromuscular disease (through molecular genetics, biopsy, clinical examination)\n\nExclusion Criteria:\n\nParticipants:\n\n* Diagnosis is not consistent with a confirmed or suspected neuromuscular disease\n* Patients with active skin lesions (e.g. infections, trauma) or confirmed genetic disorders (e.g. epidermolysis bullosa) that predisposes to skin lesion\n* Medically unstable patients\n* Tattoo on skin overlying the area to be examined\n* Missing consent form\n* Exclusion due to safety concerns of the investigator (subject who has any condition, including any physical, psychological, or psychiatric condition, which in the opinion of the Investigator, would compromise the safety of the subject or the quality of the data and renders the subject an unsuitable candidate for the study)\n* Medication leading to increased light sensitivity",{"count":683,"type":71},240,"The goal of this study is to learn if Multispectral Optoacoustic Tomographs (MSOT) works to diagnose and follow the course of neuromuscular diseases (NMDs) in children. MSOT scans will be obtained from muscle region to measure hemo\u002Fmyoglobin, collagen and lipid content\u002Fsignal and oxygenation in patients with neuromuscular diseases. No additional research activities -other than MSOT - will be done during this study. Existing clinical, laboratory and imaging data from standard-of-care procedures will be correlated with the MSOT data. The expected total duration of the study is approximately 36 months. Repeated measurements will be done to evaluate disease progression and the value of MSOT in NMD.",[25],{"date":669,"type":54},{"date":688,"type":54},"2025-02-07",{"date":690,"type":71},"2028-07",{"name":692,"class":119},"Children's Hospital of Eastern Ontario",{"id":694,"slug":695,"hasResults":12,"nctId":696,"briefTitle":697,"officialTitle":698,"acronym":4,"eligibilityCriteria":699,"healthyVolunteers":12,"sex":102,"minAge":4,"maxAge":4,"enrollmentInfo":700,"targetDuration":4,"studyType":130,"phases":4,"briefSummary":701,"conditions":702,"keywords":4,"overallStatus":83,"whyStopped":4,"lastUpdateSubmitDate":705,"lastUpdatePostDateStruct":706,"startDateStruct":708,"completionDateStruct":710,"leadSponsor":712,"locationsCount":143},"100575690","precision-diagnosis-and-therapy-for-rare-diseases-by-interpreting-non-coding-genomes-100575690","NCT06775561","Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes","Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes (PARADIGM)","Inclusion Criteria:\n\n* patients\u002Frelatives of patients with clinical diagnosis of NMD\u002FED;\n* patients\u002Frelatives of patients with inconclusive ES and aCGH data (no pathogenic\u002Flikely pathogenic variant) or finding of only a single hit (a pathogenic or likely pathogenic variant) in an autosomal recessive gene by ES (or aCGH) or no pathogenic or likely pathogenic variant but detection of a large region of genomic homozygosity surrounding a candidate gene;\n* patients\u002Frelatives of patients with a finding of cryptic VUS (splicing\u002Fregulatory\u002Fnoncoding CNVs) in ED\u002FNMD genes or pathogenic cryptic variants in a selected number of representative cases.\n* Signed informed consent to participate in the study.\n\nExclusion Criteria:\n\n\\- Trios or nuclear families where both unaffected parents do not consent to participate will be excluded (similarly, a minimum number of 3 affected family members will be needed in multigenerational pedigrees).",{"count":327,"type":71},"PARADIGM study, funded by the PNRR research grant, will focus on Eye Diseases (ED) and Neuro-Muscular Diseases (NMD) as groups of genetically heterogeneous diseases which are extensively studied by the Partners partecipating in the project; indeed ED and NMD are well clinically and molecularly characterized and approachable by drug-testing options already assessed and implemented by PARADIGM partners. ED and NMD represent good and compatible disease models as:\n\n* both are genetically heterogeneous disorders where missing heritability is likely to be hidden in non-coding variants;\n* many of the individual genes accountable for the ED and NMD cause autosomal recessive forms, increasing the chance of finding regulatory\u002Fsplicing variants",[25,703,704],"Eye Diseases","Genetic Disease","2025-01-09",{"date":707,"type":54},"2025-01-15",{"date":709,"type":54},"2023-05-20",{"date":711,"type":71},"2025-05-20",{"name":713,"class":119},"IRCCS Azienda Ospedaliero-Universitaria di Bologna"]