[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"limb-girdle-muscular-dystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:limb-girdle-muscular-dystrophy":176},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,5,0,[8,56,81,102,130],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":26,"conditions":27,"keywords":37,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100456966","phase-1-a-study-to-evaluate-the-safety-of-ab-1003-previously-lion-101-in-subjects-with-genetic-confirmation-of-lgmd2ir9-part1-100456966",false,"NCT05230459","A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I\u002FR9 (Part1)","A Two-part Multicenter Study: a Randomized, Double-blind, Placebo-controlled Dose-escalation Safety Phase (Part 1) Followed by Double-blind, Placebo-controlled, Adaptive Phase (Part 2) Study to Evaluate the Safety and Efficacy of AB-1003 in Adult Subjects With LGMD2I\u002FR9 Mutations in the Gene Encoding Fukutin Related Protein (FKRP)","Inclusion Criteria:\n\n1. Male and female subjects aged 18 and 65 years with clinical diagnosis of LGMD2I\u002FR9 and confirmation of FKRP gene mutation.\n2. Ability to walk\u002Frun 10 meters in \\\u003C30 seconds.\n3. Able to understand and comply with all study procedures.\n4. Sexually active females of childbearing potential and female and male partners of male subjects receiving study intervention must use a barrier method of contraception for the first 6 months after dosing.\n\nExclusion Criteria:\n\n1. Significant cardiomyopathy as defined by echocardiogram (left ventricular ejection fraction \\\u003C40%), evidence of conduction defect (increased PR and RR intervals, left bundle branch block and QTcF \\>480m\u002Fsec), NYHA Class 3 or 4 heart failure, or MRI gadolinium enhancement evidence of clinically important myocardial fibrosis.\n2. Contraindication to MRI or hypersensitivity to contrast dyes, shellfish or iodine.\n3. Implanted spinal rods, cardiac pacemaker or other implantation that would distort cardiac MRI images.\n4. History of active, ongoing chronic liver disease (e.g. hepatitis, HIV-related liver disease, hemochromatosis, steatosis, etc.) or abnormal liver function tests (abnormal GGT and\u002For abnormal total\u002Fdirect bilirubin \\>upper limit of normal \\[ULN\\] and\u002For elevated AST and ALT \\>2 ULN).\n5. Abnormal renal function (GFR \\\u003C60 ml\u002Fmin, using the Modification of Diet in Renal Disease equation).\n6. Any life-threatening disease, including malignant neoplasms and medical history or malignant neoplasms within the past 5 years prior to screening (except basal and squamous cell skin cancer).\n7. In the opinion of the investigator, a pre-existing medical condition that predisposes the subject to risks that outweighs the potential benefits.\n8. Requirement for daytime ventilatory support.\n9. Change in glucocorticosteroid treatment within 3 months prior to screening visit.\n10. Exposure to another investigational drug within 3 months prior to study treatment or any previous treatment with gene therapy.\n11. Ongoing participation in any other therapeutic clinical trial.\n12. Neutralizing antibody titer to AAV9 \\>1:5.\n13. Female subjects who are pregnant, plan to become pregnant in the next 12 months, or breastfeeding.","ALL","18 Years","65 Years",{"count":20,"type":21},10,"ESTIMATED","INTERVENTIONAL",[24,25],"PHASE1","PHASE2","The purpose of this study is to evaluate the safety and tolerability of a single intravenous infusion of AB-1003 in adults diagnosed with limb girdle muscular dystrophy type 2I\u002FR9 (LGMD2I\u002FR9). Participants will be treated in sequential, dose-level cohorts. (Part 1)",[28,29,30,31,32,33,34,35,36],"Limb Girdle Muscular Dystrophy","Limb-Girdle Muscular Dystrophy Type 2","LGMD2I","Muscular Dystrophy","LGMD2","LGMD","FKRP","FKRP Mutation","Fukutin Related Protein",[38,30,39,40,34,41,42],"gene therapy","LGMD2I\u002FR9","gene augmentation therapy","fukutin related protein","FKRP mutation","RECRUITING","2026-02-18",{"date":46,"type":47},"2026-02-20","ACTUAL",{"date":49,"type":47},"2023-05-15",{"date":51,"type":21},"2032-12",{"name":53,"class":54},"AskBio Inc","INDUSTRY",6,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":60,"acronym":61,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":63,"targetDuration":4,"studyType":65,"phases":4,"briefSummary":66,"conditions":67,"keywords":68,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":80},"100447158","mri-phenotyping-of-patients-with-pathogenic-anoctamin-5-variants-100447158","NCT05102799","MRI-phenotyping of Patients With Pathogenic Anoctamin 5 Variants","ANO5 MRI","Inclusion Criteria:\n\n* Two pathogenic variants in the anoctamin-5 gene\n* T1-weighted MR-images of lower back and leg muscles.\n\nExclusion Criteria:\n\n\\- Concomitant other disorders that also can result in muscular atrophy, i.e. polyneuropathy, other muscle diseases, recent long-term stay in intensive care, among others.",{"count":64,"type":21},200,"OBSERVATIONAL","A large cohort of MRI scans from patients with pathogenic variants in the anoctamin 5 gene will be collected through an international collaboration to better describe muscle involvement.",[28],[69],"Anoctaminophathies","2025-04-02",{"date":72,"type":47},"2025-04-06",{"date":74,"type":47},"2021-04-01",{"date":76,"type":21},"2026-08-01",{"name":78,"class":79},"Rigshospitalet, Denmark","OTHER",1,{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":85,"acronym":4,"eligibilityCriteria":86,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":87,"targetDuration":4,"studyType":65,"phases":4,"briefSummary":89,"conditions":90,"keywords":4,"overallStatus":92,"whyStopped":4,"lastUpdateSubmitDate":93,"lastUpdatePostDateStruct":94,"startDateStruct":96,"completionDateStruct":98,"leadSponsor":100,"locationsCount":4},"100546808","the-role-of-muscle-ultrasound-in-assessment-of-sample-of-patients-with-limb-girdle-muscular-dystrophy-100546808","NCT06399770","The Role of Muscle Ultrasound in Assessment of Sample of Patients With Limb-girdle Muscular Dystrophy","Inclusion Criteria:\n\n* gender : both sex are included Willingness to participate in the study and to be subjected to disease related examination and assessments Willing and able to provide informd consent\n\nExclusion Criteria:\n\n* patients unable to give informed consent Patients with acute or subacute onset of symptoms of muscle involvement including inflammatory myopathies Patients with systemic diseases causing secondary myopathy",{"count":88,"type":21},50,"1. to detect the characteristic patterns of muscle involvement in suspected cases of LGMD using muscle ultrasound\n2. to use the muscle ultrasound findings clinically categorized the different types of LGMD\n3. to correlate the muscle ultrasound findings with the findings of the other assissed scales",[91],"Limb-girdle Muscular Dystrophy","NOT_YET_RECRUITING","2024-05-01",{"date":95,"type":47},"2024-05-06",{"date":97,"type":21},"2024-06-01",{"date":99,"type":21},"2026-07-01",{"name":101,"class":79},"Assiut University",{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":107,"acronym":4,"eligibilityCriteria":108,"healthyVolunteers":11,"sex":16,"minAge":109,"maxAge":110,"enrollmentInfo":111,"targetDuration":4,"studyType":65,"phases":4,"briefSummary":113,"conditions":114,"keywords":117,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":121,"lastUpdatePostDateStruct":122,"startDateStruct":124,"completionDateStruct":126,"leadSponsor":128,"locationsCount":80},"100086935","molecular-analysis-of-patients-with-neuromuscular-disease-100086935","NCT00390104","Molecular Analysis of Patients With Neuromuscular Disease","Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members","The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.\n\nInclusion criteria:\n\n1. having a clinical and\u002For pathological diagnosis of a muscular dystrophy\n2. being the first degree relative of someone with such a diagnosis\n3. having had a muscle biopsy if diagnosed with a neuromuscular disease\n4. willingness to provide a skin biopsy for research only\n\nExclusion Criteria:\n\n1. not having a neuromuscular diagnosis in you or a family member\n2. not wishing to participate\n3. being incapable of giving consent and not having a legal guardian willing or able to do so","1 Week","100 Years",{"count":112,"type":21},1000,"The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis\u002Fprognosis of these disorders which will lead to potential therapies.",[115,116,91],"Neuromuscular; Disorder, Hereditary","Duchenne\u002FBecker Muscular Dystrophy",[118,119,120],"Neuromuscular Disease","Muscle weakness","Muscle atrophy","2023-04-20",{"date":123,"type":47},"2023-04-24",{"date":125,"type":47},"2002-01",{"date":127,"type":21},"2027-12-31",{"name":129,"class":79},"Boston Children's Hospital",{"id":131,"slug":132,"hasResults":11,"nctId":133,"briefTitle":134,"officialTitle":135,"acronym":136,"eligibilityCriteria":137,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":138,"targetDuration":140,"studyType":65,"phases":4,"briefSummary":141,"conditions":142,"keywords":195,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":200,"lastUpdatePostDateStruct":201,"startDateStruct":203,"completionDateStruct":205,"leadSponsor":207,"locationsCount":80},"100163659","congenital-muscle-disease-study-of-patient-and-family-reported-medical-information-100163659","NCT01403402","Congenital Muscle Disease Study of Patient and Family Reported Medical Information","Congenital Muscle Disease Patient and Proxy Reported Outcome Study","CMDPROS","Inclusion Criteria:\n\nAlpha 7\u002FAlpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy\u002FMDC1A\u002FMerosin deficient) LMNA Related Muscular Dystrophy (Laminopathy\u002FLaminA\u002FC, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy\u002FRSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular Dystrophy) Telethonin Related Muscular Dystrophy (TCAP\u002FTitin-Cap) Congenital Muscular Dystrophy Not Otherwise Specified (including Merosin Positive) Titin Related LGMD\u002FCMD, LGMD2J Actin Aggregation Myopathy Cap Disease Central Core Disease (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Spheroid Body Myopathy Titin Related Myopathy, Titin Related Dialated Cardiomyopathy, LGMD2J Tubular Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy\n\nExclusion Criteria:\n\nCharcot Marie Tooth Duchenne\u002FBecker Muscular Dystrophy Facioscapulohumeral Dystrophy\u002FFSHD Kennedy's Disease LGMD-1A (TTID) LGMD-1C (CAV3, Caveloin 3, Caveolinopathy, LQT9, VIP21) LGMD-1D (7q) LGMD-1E (6q23) LGMD-1F (7q32.1-q32.2) LGMD-1G (4q21) LGMD-2A (CAPN3\u002FCalpainopathy) LGMD-2B (DYSF\u002FDysferlinopathy\u002FMiyoshi Myopathy) LGMD-2C (SGCG) LGMD-2D (SGCA) LGMD-2E (SGCB) LGMD-2F (SGCD) LGMD-2L (AN05\u002FAnoctamin 5) Lipodystrophy Myotonic Dystrophy Oculopharyngeal Muscular Dystrophy Spinal Muscular Atrophy",{"count":139,"type":21},4000,"20 Years","The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required.\n\nThe registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual.\n\nRegistering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries.\n\nStudy hypothesis:\n\n1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.\n2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.",[143,144,145,146,147,148,149,150,151,152,153,154,155,156,157,158,159,160,161,162,163,164,165,166,167,168,169,170,171,172,173,174,175,176,177,178,179,180,181,182,183,184,185,186,187,188,189,190,191,192,193,194],"Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy)","Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C))","Alpha-Dystroglycanopathy (Fukuyama CMD)","Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I))","Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K))","Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M))","Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N))","Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O))","Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T))","Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U))","Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related)","Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB))","Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS))","Choline Kinase B Receptor - CHKB","Collagen VI Related Disorders","Collagen XII Related Disorders","Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive)","Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID)","Congenital Muscular Dystrophy With Joint Hyperlaxity","Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1","Emery-Dreifuss Muscular Dystrophy","GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement","LMNA Related Disorders","Merosin Deficient CMD (Full or Partial)","Nesprin Related MD (SYNE1)","SELENON Related Disorders (Previously Known as SEPN1)","SELENON Related Myopathy (Aka SEPN1)","Telethonin CMD","Congenital Myasthenic Syndrome","Limb-Girdle Muscular Dystrophy","LGMDD01 - DNAJB6 (Formerly LGMD1D)","LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant)","LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G)","LGMDR08 - TRIM Related (Formerly LGMD2H)","LGMDR09 - FKRP Related (Formerly LGMD2I)","LGMDR10 - Titin (TTN) Related (Formerly LGMD2J)","LGMDR11 - POMT1 Related (Formerly LGMD2K)","LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M)","LGMDR14 - POMT2 Related (Formerly LGMD2N)","LGMDR15 - POMGnT1 Related (Formerly LGMD2O)","LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P)","LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q)","LGMDR18 - TRAPPC11 Related (Formerly LGMD2S)","LGMDR19 - GMPPB Related (Formerly LGMD2T)","LGMDR20 - ISPD Related (Formerly LGMD2U)","LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive)","LGMDR23 - LAMA2 Related","LGMDR24 - POMGnT2 Related",[196,197,198,199],"Congenital Muscular Dystrophy","Congenital Myopathy","Neuromuscular Diseases","Musculoskeletal Diseases","2021-08-03",{"date":202,"type":47},"2021-08-09",{"date":204,"type":47},"2009-09",{"date":206,"type":21},"2029-09",{"name":208,"class":79},"Cure CMD"]