[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"myotonic-dystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:myotonic-dystrophy":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,13,0,[8,56,93,120,151,201,223,248,272,289,319,343,373],{"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":22,"studyType":23,"phases":4,"briefSummary":24,"conditions":25,"keywords":33,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100053754","establishing-biomarkers-and-clinical-endpoints-in-myotonic-dystrophy-type-1-end-dm1-extension-100053754",false,"NCT07700225","Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Extension","END-EXT","Inclusion Criteria:\n\n* Age 18 to 70 years (inclusive)\n* Written, voluntary informed consent must be obtained prior to any study procedures. In cases where a Legally Authorized Representative (LAR) provides consent, verbal assent will be obtained from the subject, as determined by the investigator and documented directly on the consent form. Capacity to consent will be determined by the neurologist at the Baseline visit and will be signed off on the Inclusion\u002FExclusion checklist.\n* Clinical diagnosis of DM1 based on research criteria or positive genetic test. The research criteria for clinical diagnosis of DM1 require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in \\> 99% of individuals who satisfied these criteria. OR A diagnosis of CDM, which is defined as children having symptoms of myotonic dystrophy in the newborn period (\\\u003C30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for 3 days or more; and a genetic test suspicious of an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or first degree relative. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\\>1,500)\n\nExclusion Criteria:\n\n* Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than in situ skin cancer.\n* Current alcohol or substance use disorder.\n* Concurrent pregnancy or planned pregnancy during the course of the study.\n* Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator. compromise performance on study measures.\n* Use of mexiletine or other anti-myotonia agents within 72 hours of any study visit.","ALL","18 Years","70 Years",{"count":20,"type":21},1000,"ESTIMATED","4 Years","OBSERVATIONAL","Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder that causes progressive disability and shortened life expectancy. It is characterized by progressive weakness and myotonia, which preferentially affects the craniofacial, hand, and distal leg muscles. Many patients also experience difficulties with cognition, cardiac arrhythmias, respiratory failure, or cataracts. Currently there is no treatment to slow progression or reverse the symptoms.",[26,27,28,29,30,31,32],"DM1","Myotonic Dystrophy","Myotonic Dystrophy 1","Myotonic Dystrophy Type 1","Myotonic Dystrophy Type-1","Myotonic Dystrophy, Type 1 (DM1)","Myotonic Muscular Dystrophy",[26,14,34,29,35,36,37,38,39,40,41,42],"END-DM1 Extension","Steinert's Disease","Muscular Dystrophy","Neuromuscular Disease","DMPK","Natural History","Myotonia","DMCRN","Myotonic Dystrophy Clinical Research Network","RECRUITING","2026-07-08",{"date":46,"type":47},"2026-07-13","ACTUAL",{"date":49,"type":21},"2026-07",{"date":51,"type":21},"2032-12",{"name":53,"class":54},"Virginia Commonwealth University","OTHER",1,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":16,"minAge":63,"maxAge":4,"enrollmentInfo":64,"targetDuration":4,"studyType":66,"phases":67,"briefSummary":69,"conditions":70,"keywords":74,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":83,"lastUpdatePostDateStruct":84,"startDateStruct":86,"completionDateStruct":88,"leadSponsor":90,"locationsCount":92},"100630381","phase-3-efficacy-safety-and-tolerability-of-zeleciment-basivarsen-dyne-101-in-participants-with-myotonic-dystrophy-type-1-100630381","NCT07486934","Efficacy, Safety, and Tolerability of Zeleciment Basivarsen (DYNE-101) in Participants With Myotonic Dystrophy Type 1","A Phase 3, Randomized, Double-Blind, 48-Week Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of DYNE-101 Administered to Participants With Myotonic Dystrophy Type 1","Inclusion Criteria:\n\n* Diagnosis of DM1 confirmed by molecular genetics with trinucleotide repeat size greater than (\\>) 100. Historical results from clinical testing are acceptable.\n* Able to walk 10 meters and complete 5 times sit to stand independently (inserts or supports that don't go above the ankle are allowed).\n* Body mass index (BMI) less than (\\\u003C) 35 kilograms per meter square (kg\u002Fm\\^2).\n\nExclusion Criteria:\n\n* A known diagnosis of congenital DM1.\n* History of major surgical procedure (based on Investigator judgment) within 12 weeks prior to the start of screening, with the exception of implanted pacemaker or defibrillator.\n* Use of glucagon-like peptide 1 (GLP-1) agonist\u002Fincretin medications including semaglutide, dulaglutide, liraglutide, exenatide, or tirzepatide within a period of 5 half-lives of the medication prior to performing screening assessments.\n\nNote: Other inclusion and exclusion criteria may apply.","16 Years",{"count":65,"type":21},150,"INTERVENTIONAL",[68],"PHASE3","The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment basivarsen (DYNE-101) for the treatment of myotonic dystrophy 1 (DM1).",[71,26,27,72,73],"Myotonic Dystrophy Type 1 (DM1)","Steinert Disease","Steinert",[26,27,28,40,71,75,76,72,73,32,77,78,79,80,81,82],"Dystrophy Myotonic","Myotonic Disorders","HARMONIA","Dyne Therapeutics","Dyne","DYNE-101","zeleciment basivarsen","z-basivarsen","2026-06-26",{"date":85,"type":47},"2026-06-30",{"date":87,"type":47},"2026-05-14",{"date":89,"type":21},"2029-01",{"name":78,"class":91},"INDUSTRY",14,{"id":94,"slug":95,"hasResults":11,"nctId":96,"briefTitle":97,"officialTitle":98,"acronym":99,"eligibilityCriteria":100,"healthyVolunteers":11,"sex":16,"minAge":101,"maxAge":102,"enrollmentInfo":103,"targetDuration":4,"studyType":66,"phases":105,"briefSummary":108,"conditions":109,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":110,"lastUpdatePostDateStruct":111,"startDateStruct":113,"completionDateStruct":115,"leadSponsor":117,"locationsCount":119},"100580969","phase-1-a-study-to-investigate-the-safety-tolerability-and-efficacy-of-sar446268-an-adeno-associated-viral-vector-mediated-gene-therapy-in-participants-aged-10-to-55-years-of-age-with-non-congenital-myotonic-dystrophy-type-1-100580969","NCT06844214","A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1","A Phase 1\u002FPhase 2 Open-label Single Arm Study With Dose Escalation (Part A), and Dose Expansion (Part B) Parts to Evaluate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants 10 to 55 Years Old With Non-congenital Myotonic Dystrophy Type 1","BrAAVe","Inclusion Criteria:\n\nParticipants are eligible to be included in the study only if all of the following criteria apply:\n\n* For Part A, participants must be 18 to 55 years of age inclusive, at the time of signing the informed consent.\n* For Part B, participants must be as follows:\n\n  * 10 to 17 years of age inclusive, at the time of signing the informed consent or,\n  * 18 to 55 years of age inclusive, at the time of signing the informed consent.\n* Participants with non-congenital onset DM1\n* Participants presenting with signs of DM1 including myotonia and muscle weakness, as diagnosed previously by a clinician based on medical history.\n* Participants with genetic diagnosis of DM1 \\[cytosine-thymine-guanine (CTG) repeat length ≥50 in one allele from medical history\\]\n* Participants who can walk independently for at least 10 meters at screening (orthoses and ankle braces allowed).\n\nExclusion Criteria:\n\nParticipants are excluded from the study if any of the following criteria apply:\n\n* Participants with neutralizing antibodies against the AAV.SAN011 capsid\n* Participants with left ventricular ejection fraction \\\u003C50%\n* Participants with liver or biliary disease defined as having at least one of the following:\n\n  * ALT \\>3 x ULN and AST \\>3 x ULN\n  * Alkaline phosphatase \\>3 x ULN\n  * Total bilirubin \\>1.5 x ULN (unless has a genetically confirmed diagnosis of Gilbert's syndrome)\n  * Direct bilirubin ≥1.5 x ULN\n  * Participants with International normalized ratio \\>1.5\n* Participants with renal disease defined as:\n\n  • Serum creatinine \\>1.5 x ULN and\u002For estimated glomerular filtration rate \\\u003C60 mL\u002Fmin\u002F1.73 m2 as determined by Chronic Kidney Disease Epidemiology Collaboration (2021) for those age ≥18 years and Bedside Schwartz Equation for those \\\u003C18 years\n* Participants with chronic respiratory insufficiency and on long term\u002Fhull-time ventilatory assistance requiring at least 6 hours per day for at least 21 consecutive days.\n* Participants with contraindication to corticosteroid or with conditions that could worsen in the presence of corticosteroids, as determined by the Investigator.\n* Participants with active hepatitis B or C infection; HBsAg (+), or HCV RNA (+), or current antiviral therapy for either.\n* Participants with HBcAb (+) who are not amenable for prophylactic anti-HBV therapy or pre-emptive therapy guided by serial HBV DNA monitoring during the corticosteroids therapy.\n* Participants at high risk for tuberculosis reactivation during the corticosteroids therapy as determined by the Investigator.\n* Participants with a known HIV infection\n* Participants with serious intercurrent illness that, in the opinion of the Investigator, would preclude participation in the study or potentially decrease survival.\n* Participants with recent history of or current drug or alcohol abuse in the past 12 months prior to screening.\n* Participants with history of tibialis anterior biopsy within 12 weeks from Day 1 or planning to undergo tibialis anterior biopsies during the duration of this clinical trial.\n* Participants with significant developmental delay, intellectual disability, or behavioral neuropsychiatric manifestations as determined by the Investigator.\n* Participants with previous systemic corticosteroids treatment at doses of \\>5 mg\u002Fday within 15 days of Day 1\n* Participants with previous treatment with anti-myotonic medication within 15 days of Day 1\n* Participants not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures.\n* Participants who have been classified as severe cardiac risk by the Investigator.\n\nThe above information is not intended to contain all considerations relevant to a participant's potential participation in a clinical trial.","10 Years","55 Years",{"count":104,"type":21},32,[106,107],"PHASE1","PHASE2","This is a Phase 1\u002FPhase 2 open-label single arm, multicenter, and multinational study with SAR446268 for treatment of male and female participants 10 to 55 years old with non-congenital myotonic dystrophy (DM) type 1 (DM1).\n\nThe purpose of this study is to evaluate the safety and efficacy of SAR446268 in knocking down dystrophia myotonica protein kinase (DMPK) messenger ribonucleic acid (mRNA) levels and improving neuromuscular function in DM1 participants receiving a single intravenous (IV) administration of SAR446268. The study consists of a dose escalation part (Part A) during which single ascending doses of SAR446268 will be evaluated in 3 distinct cohorts and an optional fourth dose cohort. Once a safe and effective dose is identified, additional participants will be treated in Part B, the dose expansion phase of the study.\n\nThe study duration will be 112 weeks (approximately 2 years) for each participant in Parts A and B respectively and includes an optional pre-screening period, approximately 8-week screening phase and a 104-week follow-up period post-SAR446268 administration.",[27],"2026-05-29",{"date":112,"type":47},"2026-06-01",{"date":114,"type":47},"2025-07-23",{"date":116,"type":21},"2032-04-27",{"name":118,"class":91},"Sanofi",9,{"id":121,"slug":122,"hasResults":11,"nctId":123,"briefTitle":124,"officialTitle":124,"acronym":125,"eligibilityCriteria":126,"healthyVolunteers":127,"sex":16,"minAge":17,"maxAge":128,"enrollmentInfo":129,"targetDuration":4,"studyType":66,"phases":131,"briefSummary":133,"conditions":134,"keywords":137,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":142,"lastUpdatePostDateStruct":143,"startDateStruct":145,"completionDateStruct":147,"leadSponsor":149,"locationsCount":55},"100617696","assessment-of-a-portable-digital-device-for-quantified-analysis-of-markerless-walking-in-volunteers-with-neuromuscular-diseases-or-asymptomatic-volunteers-100617696","NCT07321977","Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers","Myokinesis","* All volunteers\n\n  * Age between 18 and 65\n  * Ambulatory\n  * Informed consent to participate in the study\n  * Member of or beneficiary of a social security system\n* Volunteers with a neuromuscular disease\n\n  * Confirmed diagnosis of a neuromuscular disease of genetic origin (medical document to be provided upon enrollment in the study with proof of diagnosis) belonging to the list above.\n  * Ability to walk for 2 minutes without assistance.\n  * Ability to stand up from a chair with armrests at least 3 times in 30 seconds.\n  * Ability to climb an inclined plane independently or with assistance to access the movement analysis room.\n\nExclusion Criteria\n\n* All volunteers\n\n  * Individuals under guardianship, curatorship, or legal protection\n  * Pregnant or breastfeeding women\n  * Non-ambulatory individuals\n  * Individuals with epilepsy\n  * Skin conditions preventing the placement of VICON motion sensors\n* Asymptomatic volunteers\n\n  * Unstable respiratory or cardiac problems\n  * Neurological, musculoskeletal, or psychiatric problems\n* Volunteers with a neuromuscular disease\n\n  * Recent trauma or serious falls (≤ 6 months)\n  * Individuals who have fallen more than twice in the past year and at least once in the past three months\n  * Use of assistive devices such as rigid knee braces or walkers\n  * Unstable cardiomyopathy\n  * Individuals awaiting diagnosis\n\nExclusion criteria\n\n* Inability to comply with the protocol requirements\n* Medical or social conditions that could interfere with the study, as determined by the coordinating investigator or co-investigators.",true,"65 Years",{"count":130,"type":21},30,[132],"NA","In recent years, knowledge of neuromuscular diseases has advanced considerably, and new therapeutic avenues are beginning to emerge. The proliferation of clinical trials has created a need to identify biomarkers that are both sensitive to changes and specific to the disease. Current gait tests only consider the time factor and not the evolution of the patient's biomechanics, which may prove insufficient for patients whose symptoms generally progress slowly. Quantifying gait parameters in neuromuscular patients therefore appears necessary. This is why we propose to study markerless gait analysis in this population, which would allow for simple and effective monitoring of kinematic parameters without resorting to complex equipment incompatible with routine clinical practice.",[135,136,36,27],"Spinal Muscular Atrophy (SMA)","Charcot-Marie-Tooth",[138,139,140,141],"gait analysis","neuromuscular","disease","markerless","2026-05-18",{"date":144,"type":47},"2026-05-19",{"date":146,"type":47},"2026-03-03",{"date":148,"type":21},"2027-01-06",{"name":150,"class":54},"Institut de Myologie, France",{"id":152,"slug":153,"hasResults":11,"nctId":154,"briefTitle":155,"officialTitle":156,"acronym":157,"eligibilityCriteria":158,"healthyVolunteers":11,"sex":159,"minAge":17,"maxAge":4,"enrollmentInfo":160,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":162,"conditions":163,"keywords":178,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":192,"lastUpdatePostDateStruct":193,"startDateStruct":195,"completionDateStruct":197,"leadSponsor":199,"locationsCount":55},"100527411","development-of-non-invasive-prenatal-diagnosis-for-single-gene-disorders-100527411","NCT06147414","Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders","DANNIgene","Inclusion Criteria:\n\n* pregnant woman with 9 weeks of amenorrhea or more\n* singleton pregnancy\n* undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK\n* germinal pathogenic paternal and\u002For maternal mutations previously identified\n* age 18 years old or over\n* signing an informed consent\n\nExclusion Criteria:\n\n* at risk of SGD involving a de novo pathogenic mutation in a previous child\n* woman under legal protection","FEMALE",{"count":161,"type":21},550,"Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting.\n\nThe present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.",[164,165,166,167,168,27,169,170,171,172,173,174,175,176,177],"Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including","Sickle Cell Disease","Cystic Fibrosis","Fragile X Syndrome","Proximal Spinal Muscular Atrophy","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Neurofibromatosis-Noonan Syndrome","Huntington Disease","Hemophilia A","Hemophilia B","MODY2 Diabetes","X-Linked Hydrocephalus","Autosomal Recessive Polycystic Kidney Disease",[179,180,181,182,183,184,185,186,187,188,189,190,191],"Gene HBB","Gene CFTR","Gene FMR1","Gene SMN1","Gene DMPK","Gene DMD","Gene NF1","Gene HTT","Gene F8","Gene F9","Gene GCK","Gene L1CAM","Gene PKHD1","2026-04-20",{"date":194,"type":47},"2026-04-23",{"date":196,"type":47},"2024-10-23",{"date":198,"type":21},"2027-05",{"name":200,"class":54},"Assistance Publique - Hôpitaux de Paris",{"id":202,"slug":203,"hasResults":11,"nctId":204,"briefTitle":205,"officialTitle":206,"acronym":4,"eligibilityCriteria":207,"healthyVolunteers":11,"sex":16,"minAge":63,"maxAge":4,"enrollmentInfo":208,"targetDuration":4,"studyType":66,"phases":210,"briefSummary":211,"conditions":212,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":213,"lastUpdatePostDateStruct":214,"startDateStruct":216,"completionDateStruct":218,"leadSponsor":220,"locationsCount":222},"100556307","phase-3-the-efficacy-and-safety-of-once-daily-mexiletine-pr-in-patients-with-myotonic-dystrophy-type-1-and-type-2-100556307","NCT06523400","The Efficacy and Safety of Once Daily Mexiletine PR in Patients With Myotonic Dystrophy Type 1 and Type 2","A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Once Daily Mexiletine PR During 26 Weeks of Treatment in Patients With Myotonic Dystrophy Type 1 and Type 2 (Phase 3)","Inclusion Criteria:\n\n1. DM1 or DM2 diagnosis confirmed genetically;\n2. Ability to comprehend and willingness to sign an informed consent (ICF) or ICF of the parent(s)\u002Flegal guardian and written assent from the patient (if patient \\\u003C 18 years of age);\n3. Ability to understand the study requirements including intention to stay in the study until the end-of-study visit at 26 weeks of treatment;\n4. Male or non-pregnant female ≥16 years of age;\n5. Body Mass Index (BMI) of 18.5 kg\u002Fm2 to 30 kg\u002Fm2, and weight ≥45 kg;\n6. Female patients of childbearing potential must be using a highly effective form of birth control for the duration of the study and for at least 7 days after last dose of study drug;\n7. No significant cardiac abnormalities as determined by a cardiologist's assessment;\n8. Have sufficient finger flexor strength to grasp the handle of the dynamometer used to measure myotonia;\n9. Presence of clinical handgrip myotonia (delayed relaxation of grip of ≥ 3 seconds after maximum voluntary contraction) at screening using VHOT;\n10. Be able to walk independently 10 meters (cane, walker, orthoses allowed);\n11. DM1 patients only - Muscular impairment rating scale (MIRS) score of 2, 3 or 4.-\n\nExclusion Criteria:\n\n1. Are pregnant or lactating;\n2. Have any one of the following medical conditions: uncontrolled diabetes mellitus, cancer other than skin cancer less than five years previously (e.g., basal-cell carcinoma (BCC) and squamous-cell carcinoma (SCC) of skin allowed), multiple sclerosis, seizure disorders, or other serious medical illness;\n3. Severe renal impairment (glomerular filtration rate (GFR) \\\u003C 30 mL\u002Fmin);\n4. Medical conditions which could interfere with muscle function such as infections, trauma, fractures, or planned surgery;\n5. Medical conditions that could affect hand functioning including but not limited to rheumatoid arthritis, Dupuytren's contracture, hand deformity, etc.;\n6. Severe arthritis or medical condition (other thanDM1\u002FDM2) that would significantly impact ambulation;\n7. High incidence of falls or fall-associated fractures (\\>5 falls during the past 12 months);\n8. Preexisting elevated liver function tests \\> 3 times the upper limit of normal (ULN) at screening (alanine transaminase (ALT)\u002Faspartate transaminase (AST), gamma-glutamyl transferase (GGT)) and\u002For any abnormal chemistry, hematology or urine lab considered clinically significant by investigator;\n9. Serum potassium values \\\u003C 3.5 mmol\u002FL or \\> 5.0 mmol\u002FL or serum magnesium values \\\u003C 1.7 mg\u002FdL. Electrolytic imbalance such as hypokalaemia, hyperkalaemia or hypomagnesaemia may increase the proarrhythmic effects of mexiletine. Electrolyte imbalances need to be corrected before administering mexiletine and will be monitored throughout treatment.\n10. Treatment with mexiletine within 4 weeks prior to baseline (Day 1);\n11. Intake of any anti-myotonic treatment within 4 weeks prior to baseline (Day 1) or 5 half-lives, whichever is longer such as metformin, such as propafenone, flecainide, lamotrigine, carbamazepine or any other channel-blocker\u002F anticonvulsive drugs;\n12. Use of any concomitant medications that could increase the cardiac risk;\n13. Known allergy to mexiletine or any local anesthetics;\n14. Participation in another interventional clinical study during the last 3 months or 5 half-lives of the investigational medicinal product, whichever is longer;\n15. Wheelchair-bound or bed-ridden;\n16. Any cardiac safety associated condition including any of the following criteria detected by screening cardiac evaluations including 24-hr Holter monitor, echocardiogram and clinical evaluations:\n\n    * PR interval ≥240 ms or QRS duration ≥120 ms on resting ECG\n    * Personal history of 3rd degree or 2nd degree type 2 atrioventricular block or sinus node dysfunction with pauses ≥3 seconds, complete bundle branch block, bifascicular and trifascicular block or any heart block susceptible to evolve to complete heart block\n    * Personal history of sustained atrial fibrillation, flutter or tachycardia (duration \\>30 seconds)\n    * Personal history of non-sustained (ventricular triplets or more) or sustained ventricular tachycardia\n    * Myocardial infarction (acute or past) or coronary artery stenosis \\>50%, presence of abnormal Q waves\n    * New York Heart Association (NYHA) Class II to IV heart failure\n    * Left ventricular systolic dysfunction with ejection fraction \\\u003C50%\n    * Sinus node dysfunction (including ECG sinus rate \\\u003C50 beats per minute (BPM))\n    * Co-administration of antiarrhythmics inducing torsades de pointes (class Ia: quinidine, procainamide, disopyramide, ajmaline; class Ic: encainide, flecainide, propafenone, moricizine; class III: amiodarone, sotalol, ibutilide, dofetilide, dronedarone, vernakalant)\n    * Co-administration of other classes of antiarrhythmics (class Ib: lidocaine, phenytoin, tocainide; class II: propranolol, esmolol, timolol, metoprolol, atenolol, carvedilol, bisoprolol, nebivolol; class IV: verapamil, diltiazem)\n    * Patients with implantable cardioverter defibrillators (ICDs) and pacemakers are excluded\n    * Presence of symptomatic coronary artery disease",{"count":209,"type":21},176,[68],"A Randomized, Double-blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Once Daily Mexiletine PR During 26 Weeks of Treatment in Patients with Myotonic Dystrophy Type 1 and Type 2 (HERCULES study)",[27],"2026-02-05",{"date":215,"type":47},"2026-02-06",{"date":217,"type":47},"2025-02-13",{"date":219,"type":21},"2026-04-22",{"name":221,"class":91},"Lupin Ltd.",7,{"id":224,"slug":225,"hasResults":11,"nctId":226,"briefTitle":227,"officialTitle":228,"acronym":229,"eligibilityCriteria":230,"healthyVolunteers":127,"sex":16,"minAge":17,"maxAge":128,"enrollmentInfo":231,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":233,"conditions":234,"keywords":235,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":239,"lastUpdatePostDateStruct":240,"startDateStruct":242,"completionDateStruct":244,"leadSponsor":246,"locationsCount":55},"100620842","development-of-quantitative-muscle-imaging-as-a-biomarker-of-disease-endpoints-in-myotonic-dystrophy-100620842","NCT07362875","Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy","Development of Quantitative Muscle Imaging as a Biomarker of Disease Endpoints in Myotonic Dystrophy (DeQoDE-DM)","DeQoDE-DM","Inclusion Criteria:\n\nDM subjects\n\n* Age 18 - 65 years\n* Diagnosis of DM1 or DM2 by clinical or genetic criteria. If DM1 or DM2 was diagnosed by clinical criteria, a first-degree relative must have genetic testing confirmation and sign a genetic consent form to release their genetic information\n* Clinically affected, as defined by muscle weakness or myotonia\n* Ambulate independently (a walker is not permitted)\n* Able to provide informed consent for participation in the study\n\nControl subjects\n\n* Age 18 - 65 years old\n* Healthy as defined by no significant medical or neurological conditions\n* Able to provide informed consent for participation in the study\n\nExclusion Criteria:\n\n* Cardiac pacemaker, defibrillator, metal implants, or other contraindications for MRI\n* Use of anabolic or catabolic agents within one year of entry\n* History of lumbar spine or leg surgery, lumbar radiculopathy, or peripheral neuropathy\n* BMI \\> 35 because obesity compromises positioning on the MR scanner\n* Pregnancy\n* For muscle biopsy, history of bleeding disorders or on anticoagulation. Subjects taking nonsteroidal anti- inflammatory agents will be asked to discontinue these medications 7 days prior to muscle biopsy.",{"count":232,"type":21},75,"Myotonic dystrophy (dystrophia myotonica; DM), the most prevalent form of muscular dystrophy in adults, is characterized by progressive myopathy, myotonia, and multi-systemic involvement. DM causes severe disability and profoundly affects the patient's quality of life. Currently, no effective treatments are available that alter the course of the disease, but ongoing clinical trials are underway.",[27],[236,237,238],"dystrophia myotonica","muscular dystrophy","skeletal myopathy","2026-01-15",{"date":241,"type":47},"2026-01-23",{"date":243,"type":47},"2025-05-15",{"date":245,"type":21},"2029-05",{"name":247,"class":54},"Wake Forest University Health Sciences",{"id":249,"slug":250,"hasResults":11,"nctId":251,"briefTitle":252,"officialTitle":252,"acronym":4,"eligibilityCriteria":253,"healthyVolunteers":127,"sex":16,"minAge":254,"maxAge":4,"enrollmentInfo":255,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":257,"conditions":258,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":262,"lastUpdatePostDateStruct":263,"startDateStruct":265,"completionDateStruct":267,"leadSponsor":269,"locationsCount":271},"100440770","biomarker-development-for-muscular-dystrophies-100440770","NCT05019625","Biomarker Development for Muscular Dystrophies","Inclusion Criteria:\n\n* Subjects with DM1 or DM2 based on genetic testing and\u002For clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.\n* Able to provide informed consent or assent for participation in the study.\n* Demographic characteristics for single biofluid collection: Males and females age 5 years and older.\n* Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.\n* Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.\n\nDemographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.\n\nExclusion Criteria:\n\n* Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and\u002For C positive.\n* Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.\n* Other. Inability or unwillingness of the subject to give written informed consent.","5 Years",{"count":256,"type":21},465,"Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.",[27,259,260,261],"Duchenne Muscular Dystrophy","Becker Muscular Dystrophy","Facioscapulohumeral Muscular Dystrophy","2025-11-19",{"date":264,"type":47},"2025-11-24",{"date":266,"type":47},"2015-02-20",{"date":268,"type":21},"2028-06",{"name":270,"class":54},"Massachusetts General Hospital",5,{"id":273,"slug":274,"hasResults":11,"nctId":275,"briefTitle":276,"officialTitle":276,"acronym":4,"eligibilityCriteria":277,"healthyVolunteers":127,"sex":16,"minAge":254,"maxAge":4,"enrollmentInfo":278,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":280,"conditions":281,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":262,"lastUpdatePostDateStruct":282,"startDateStruct":283,"completionDateStruct":285,"leadSponsor":287,"locationsCount":288},"100440799","extracellular-rna-biomarkers-of-myotonic-dystrophy-100440799","NCT05020002","Extracellular RNA Biomarkers of Myotonic Dystrophy","Inclusion Criteria:\n\n* Subjects with DM1 or DM2 based on genetic testing and\u002For clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.\n* Able to provide informed consent or assent for participation in the study.\n* Demographic characteristics for single biofluid collection: Males and females age 5 years and older (DM1, DM2, and non-DM).\n* Demographic characteristics for repeated measurements: Males and females age 14 years and older with DM1.\n* Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.\n\nExclusion Criteria:\n\n* Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and\u002For C positive.\n* Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.\n* Other. Women that are pregnant, or intend to become pregnant, prior to the biopsy; urine pregnancy test that is positive; inability or unwillingness of the subject to give written informed consent.\n* Other. Inability or unwillingness of the subject to give written informed consent or assent.",{"count":279,"type":21},215,"Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample.",[27],{"date":264,"type":47},{"date":284,"type":47},"2020-12-08",{"date":286,"type":21},"2027-12",{"name":270,"class":54},3,{"id":290,"slug":291,"hasResults":11,"nctId":292,"briefTitle":293,"officialTitle":294,"acronym":4,"eligibilityCriteria":295,"healthyVolunteers":127,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":296,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":298,"conditions":299,"keywords":303,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":311,"lastUpdatePostDateStruct":312,"startDateStruct":314,"completionDateStruct":316,"leadSponsor":317,"locationsCount":55},"100063959","myotonic-dystrophy-and-facioscapulohumeral-muscular-dystrophy-registry-100063959","NCT00082108","Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry","National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members","Inclusion Criteria:\n\n* Diagnosed with DM, FSHD, or related diseases or are an unaffected family member of someone diagnosed with one of these diseases",{"count":297,"type":21},3000,"Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers.",[27,261,36,29,300,301,302,35,32],"Myotonic Dystrophy Type 2","Congenital Myotonic Dystrophy","PROMM (Proximal Myotonic Myopathy)",[304,305,306,36,307,27,26,308,309,310],"Registry","FSHD","DM","Facioscapulohumeral Myotonic Dystrophy","DM2","FSH","MMD","2025-10-10",{"date":313,"type":47},"2025-10-15",{"date":315,"type":4},"2000-09",{"date":268,"type":21},{"name":318,"class":54},"University of Rochester",{"id":320,"slug":321,"hasResults":11,"nctId":322,"briefTitle":323,"officialTitle":323,"acronym":324,"eligibilityCriteria":325,"healthyVolunteers":11,"sex":16,"minAge":326,"maxAge":327,"enrollmentInfo":328,"targetDuration":4,"studyType":23,"phases":4,"briefSummary":330,"conditions":331,"keywords":333,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":335,"lastUpdatePostDateStruct":336,"startDateStruct":338,"completionDateStruct":340,"leadSponsor":342,"locationsCount":55},"100573561","trial-readiness-and-endpoint-assessment-in-pediatric-myotonic-dystrophy-extension-100573561","NCT06747884","Trial Readiness and Endpoint Assessment in Pediatric Myotonic Dystrophy Extension","TREAT-EXT","Inclusion Criteria (Congenital Myotonic Dystrophy Group):\n\n* Age 5-17 years, 11 months at enrollment. Lower age limit not applicable for participants who have completed ASPIRE-DM1 protocol. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study\n* A diagnosis of CDM, defined as: children having symptoms of myotonic dystrophy in the newborn period (\\\u003C30 days), such as hypotonia, feeding or respiratory difficulty, requiring hospitalization to a ward or to the neonatal intensive care unit for more than 72 hours; and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\\>1,500).\n* Written, voluntary informed consent must be obtained before any study related procedures are conducted.\n\nInclusion Criteria (Childhood Myotonic Dystrophy Group):\n\n* Age 3-17 years, 11 months at enrollment. Upper age limit not applicable for participants who previously participated in TREAT-01-001 (TREAT-CDM) study.\n* A diagnosis of ChDM, defined as: children having cognitive deficits, muscle weakness, myotonia that developed after age 1 and prior to age 10 and a genetic test confirming an expanded trinucleotide (CTG) repeat in the DMPK gene in the child or mother. An expanded CTG repeat size in the child is considered greater than 200 repeats or E1-E4 classification (E1= 200-500, E2=500-1,000, E3=1,000-1,500, E4\\>1,500).\n* Written, voluntary informed consent must be obtained before any study related procedures are conducted.\n\nExclusion Criteria:\n\n* Any other non-DM1 illness that would interfere with the ability to undergo safe testing or would affect the interpretation of the results, in the opinion of the site investigator\n* Significant trauma within the past month\n* Internal metal or devices (exclusion for DEXA component)\n* Use of anticoagulants, such as warfarin or a direct oral anticoagulant (e.g., dabigatran) due to the increased risk of bleeding with biopsy\n* Platelet count \\\u003C50,000\n* History of a bleeding disorder\n* Participation in a clinical trial involving an investigational product\n* History of adverse reaction to lidocaine (if participating in muscle biopsy)","3 Years","17 Years",{"count":329,"type":21},200,"This is a natural history study to improve the types of assessments and biological samples that will be used in clinical drug trials in both congenital myotonic dystrophy and childhood myotonic dystrophy.",[301,332,27],"Childhood Myotonic Dystrophy",[26,332,301,27,40,75,41,324,334],"TREAT CDM","2025-07-28",{"date":337,"type":47},"2025-07-30",{"date":339,"type":47},"2025-06-06",{"date":341,"type":21},"2030-06",{"name":53,"class":54},{"id":344,"slug":345,"hasResults":11,"nctId":346,"briefTitle":347,"officialTitle":347,"acronym":348,"eligibilityCriteria":349,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":350,"targetDuration":254,"studyType":23,"phases":4,"briefSummary":352,"conditions":353,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":364,"lastUpdatePostDateStruct":365,"startDateStruct":367,"completionDateStruct":369,"leadSponsor":371,"locationsCount":55},"100239721","myotonic-dystrophy-family-registry-100239721","NCT02398786","Myotonic Dystrophy Family Registry","MDFR","Inclusion Criteria:\n\n* Diagnosed with congenital, juvenile-onset or adult onset DM1 or DM2 (confirmed by clinical exam or genetic test)\n\nExclusion Criteria:\n\n* Not diagnosed with DM, unaffected family members",{"count":351,"type":21},3500,"The Myotonic Dystrophy Family Registry (MDFR) is an online, patient-entered database that collects information on myotonic dystrophy (DM) to aid researchers in developing new, effective treatments and help identify participants for research studies and clinical trials.",[27,301,28,354,355,356,357,358,359,360,302,361,72,362,35,363],"Myotonic Dystrophy 2","Dystrophia Myotonica","Dystrophia Myotonica 1","Dystrophia Myotonica 2","Myotonia Dystrophica","Myotonic Dystrophy, Congenital","Myotonic Myopathy, Proximal","Proximal Myotonic Myopathy","Steinert Myotonic Dystrophy","Myotonia Atrophica","2024-11-19",{"date":366,"type":47},"2024-11-21",{"date":368,"type":4},"2013-02",{"date":370,"type":21},"2030-02",{"name":372,"class":54},"Myotonic Dystrophy Foundation",{"id":374,"slug":375,"hasResults":11,"nctId":376,"briefTitle":377,"officialTitle":378,"acronym":4,"eligibilityCriteria":379,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":380,"targetDuration":382,"studyType":23,"phases":4,"briefSummary":383,"conditions":384,"keywords":385,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":386,"lastUpdatePostDateStruct":387,"startDateStruct":389,"completionDateStruct":391,"leadSponsor":393,"locationsCount":55},"100362758","the-united-kingdom-national-registry-for-myotonic-dystrophy-100362758","NCT04003363","The United Kingdom National Registry for Myotonic Dystrophy","The UK National Registry for Myotonic Dystrophy","Inclusion Criteria:\n\n* All patients with a confirmed Myotonic Dystrophy diagnosis (or pending diagnosis) are eligible for inclusion. Diagnosis will be confirmed via genetic testing results\n\nExclusion Criteria:\n\n* There are no exclusion criteria for the registry",{"count":381,"type":21},900,"20 Years","Myotonic dystrophy (dystrophia myotonica - DM) exists in two forms, usually referred to as DM1 (type 1) and DM2 (type 2). Both conditions are genetic disorders but each affects a different gene. DM1 is the most common adult-onset muscular dystrophy, and is thought to affect at least 1 in 8,000 people worldwide.\n\nThe aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease in the UK. By maintaining a national registry this will help identify potential participants eligible for clinical trials in the future.",[27],[27,29,300,306,26,308],"2023-11-28",{"date":388,"type":47},"2023-12-04",{"date":390,"type":47},"2013-05",{"date":392,"type":21},"2030-12",{"name":394,"class":54},"Newcastle University"]