[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"x-linked\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:x-linked":36},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,69,116,128],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":42,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":58,"lastUpdatePostDateStruct":59,"startDateStruct":62,"completionDateStruct":64,"leadSponsor":66,"locationsCount":4},"100053565","phase-3-a-phase-3-study-to-evaluate-the-safety-and-efficacy-of-aoc-1044-also-referred-to-as-delpacibart-zotadirsen-in-participants-with-dmd-with-gene-mutations-amenable-to-exon-44-skipping-100053565",false,"NCT07587242","A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping","A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Global Study With an Open-Label Extension to Evaluate the Efficacy and Safety of Intravenous AOC 1044 (Delpacibart Zotadirsen) for the Treatment of DMD With Gene Mutations Amenable to Exon 44 Skipping","SAFARI44","Key Inclusion Criteria:\n\n* Ambulatory males with clinical and genetic diagnosis of DMD\n* Acceptable genetic test confirming dystrophin gene mutation amenable to exon 44 skipping\n* 7 to 16 years of age at time of consent\n* TTR and NSAA assessment completed within the protocol specified parameters at Screening\n* On a stable regimen of corticosteroids (including Vamolorone) for at least 6 months prior to Day 1. Steroid regimen must be anticipated to remain stable.\n\nKey Exclusion Criteria:\n\n* Previous treatment cell or gene therapy.\n* Treatment with another oligonucleotide within 6 months of informed consent (not including COVID-19 RNA vaccines).\n* Lab values outside of the protocol specified range at Screening\n* If on any of the following treatments (growth hormone, testosterone or givinostat), participants must be on a stable regimen and must plan to maintain it for the duration of the study. Participants will be excluded if regimen stability prior to informed consent is as follows:\n* Less than 1 month, for growth hormone and\u002For testosterone\n* Less than 6 months for givinostat","MALE","7 Years","16 Years",{"count":21,"type":22},70,"ESTIMATED","INTERVENTIONAL",[25],"PHASE3","A Randomized, Double-blind, Placebo-controlled, Phase 3 Study to Evaluate the Efficacy and Safety of Intravenous AOC 1044 for the treatment of Duchenne Muscular Dystrophy (DMD) with Gene Mutations Amenable to Exon 44 Skipping",[28,29,30,31,32,33,34,35,36,37,38,39,40,41],"Muscular Dystrophies","Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)","Muscular Disorders, Atrophic","Muscular Disease","Musculoskeletal Diseases","Neuromuscular Diseases (NMD)","Nervous System Diseases","Genetic Diseases","X-Linked","Hereditary","Neonatal Disease","Duchene Muscular Dystrophy","Congenital","DMD",[43,44,45,46,47,48,49,50,15,51,52,53,54,55,56,41],"AOC","AOC 1044","AOC 1044-CS3","AOC 1044-CS1","AOC 1044-CS2","EXPLORE44","EXPLORE44-OLE","SAFARI","SAFARI 44","Avidity","Avidity Biosciences","Exon Skipping Therapy","Avidity Biosciences Inc., A Novartis Company","del-zota","NOT_YET_RECRUITING","2026-07-10",{"date":60,"type":61},"2026-07-13","ACTUAL",{"date":63,"type":22},"2026-06",{"date":65,"type":22},"2030-07",{"name":67,"class":68},"Avidity Biosciences, Inc.","INDUSTRY",{"id":70,"slug":71,"hasResults":11,"nctId":72,"briefTitle":73,"officialTitle":74,"acronym":75,"eligibilityCriteria":76,"healthyVolunteers":77,"sex":78,"minAge":79,"maxAge":4,"enrollmentInfo":80,"targetDuration":4,"studyType":23,"phases":82,"briefSummary":84,"conditions":85,"keywords":94,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":105,"lastUpdatePostDateStruct":106,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":115},"100644109","morphology-in-oral-rare-syndromes--artificial-intelligence-for-clinical-diagnosis-100644109","NCT07666269","Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis","Geometric Morphometric Characterization of Oro-Dental Anomalies in Rare Bone and Cartilage Diseases From 3D Digital Data (MOSAIC)","MOSAIC","Inclusion Criteria:\n\n* For cases: Diagnosis of a rare bone and cartilage disorder confirmed by the Rare Disease Competence Center for Constitutional Bone Disorders (MOC) or Calcium and Phosphate Metabolism Disorders (CaP), genetically and\u002For clinically.\n* Ability to undergo a 3D intra-oral scan;\n* Ability of the participant to understand the information notice provided regarding the use of their medical data and 3D digital models for research purposes, and to express informed non-objection to participation in the research.\n* For controls: healthy adults recruited in the Dental Medicine Department.\n\nExclusion Criteria:\n\n* History of major orthodontic\u002Forthognathic treatment;\n* Craniofacial conditions unrelated to the studied diseases (e.g., cleft palate, non-target craniofacial syndromes);\n* Impossibility to obtain a 3D optical impression;\n* Refusal or inability of the participant to understand the information notice and\u002For to express informed non-objection to participation in the research.",true,"ALL","18 Years",{"count":81,"type":22},240,[83],"NA","MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through geometric morphometrics. The study will also evaluate whether these morphological signatures can train an artificial intelligence (AI) algorithm to classify syndromes. A prospective monocentric case-control cohort will be constituted, including 3D intra-oral scans and associated clinical data. The final goal is to improve diagnostic accuracy and reduce diagnostic delay in rare bone disorders.",[86,87,88,36,89,90,91,92,93],"Osteogenesis Imperfecta","Rare Bone Disorders","Hypophosphatemia","Mucopolysaccharidoses","Tooth Abnormalities","Palate; Deformity","Artificial Intelligence (AI)","Machine Learning",[95,96,97,98,99,100,101,102,103,104],"Rare bone diseases","palatal morphology","geometric morphometrics","3D intra-oral scan","machine learning","artificial intelligence","diagnostic classification","osteogenesis imperfecta","X-linked hypophosphatemia","mucopolysaccharidosis","2026-06-18",{"date":107,"type":61},"2026-06-24",{"date":109,"type":22},"2026-09-01",{"date":111,"type":22},"2028-03-01",{"name":113,"class":114},"University Hospital, Bordeaux","OTHER",1,{"id":117,"slug":4,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":118,"targetDuration":4,"studyType":23,"phases":119,"briefSummary":26,"conditions":120,"keywords":121,"overallStatus":57,"whyStopped":4,"lastUpdateSubmitDate":122,"lastUpdatePostDateStruct":123,"startDateStruct":125,"completionDateStruct":126,"leadSponsor":127,"locationsCount":4},"100638788",{"count":21,"type":22},[25],[28,29,30,31,32,33,34,35,36,37,38,39,40,41],[43,44,45,46,47,48,49,50,15,51,52,53,54,55,56,41],"2026-05-08",{"date":124,"type":61},"2026-05-14",{"date":63,"type":22},{"date":65,"type":22},{"name":67,"class":68},{"id":129,"slug":130,"hasResults":11,"nctId":131,"briefTitle":132,"officialTitle":133,"acronym":134,"eligibilityCriteria":135,"healthyVolunteers":77,"sex":78,"minAge":4,"maxAge":4,"enrollmentInfo":136,"targetDuration":4,"studyType":138,"phases":4,"briefSummary":139,"conditions":140,"keywords":153,"overallStatus":162,"whyStopped":4,"lastUpdateSubmitDate":163,"lastUpdatePostDateStruct":164,"startDateStruct":166,"completionDateStruct":168,"leadSponsor":170,"locationsCount":115},"100624813","hemophilia-a-research-program-100624813","NCT07414511","Hemophilia A Research Program","Hemophilia A Research Program (HARP): An Observational Intergenerational Cohort Study of Hemophilia A and Factor VIII Immunogenicity","HARP","Maternal Inclusion Criteria:\n\nPregnant individuals who meet the following criteria are eligible for enrollment as study participants:\n\n* Currently pregnant and prior to 37 weeks gestation\n* Known to have or at-risk of having a severe hemophilia A genotype\n* Pregnant with at least one fetus at-risk of inheriting severe hemophilia A\n* Ability to understand and willingness to provide informed consent\n* 18 years of age or older\n\nBefore the 38th week of pregnancy, enrolled participants must meet all the following criteria to continue to remain in the study:\n\n* The pregnant mother has a severe hemophilia A genotype.\n* A fetus is determined to have a \\>\u002F= 25% risk of inheriting severe hemophilia A, or prenatal testing indicates a fetus is affected by severe hemophilia A.\n* No other discontinuation criteria have been identified.\n\nPediatric Continuation \u002F Inclusion Criteria:\n\nEligibility of the child to continue is assessed by age 8 weeks. Mother-child pairs in which a child meets the following criteria will remain in the study:\n\n* Severe hemophilia A defined by a baseline FVIII:C \\\u003C 0.01 IU\u002FmL (or FVIII:C \\\u003C 1%) or a genotype predicted to cause severe hemophilia A\n* Born to a mother participating in the study\n\nThereafter, mothers and their children will continue in the study as long as no new discontinuation criteria occur.\n\nInclusion Criteria for Blood Relatives:\n\nBlood relatives of the child may be offered participation if one of the following criteria are met:\n\n* First-degree blood relatives (e.g., father, sibling) of the child\n* Second-degree blood relatives (e.g., aunt, uncle, grandparent, half-sibling) of the child\n* Any more distant male or female blood relative whose data or samples may be informative for the planned genetic studies of hemophilia and inhibitors\n\nExclusion\u002FDiscontinuation Criteria:\n\nMaternal: For the pregnant person, exclusion or discontinuation criteria are as follows:\n\n* Genetic testing is negative for a severe hemophilia A genotype\n* Prenatal clinical diagnostic testing that indicates there is no fetus affected with severe hemophilia A\n* Presence of another clinically significant bleeding disorder\n* Participation in another study for which any blood collection total would exceed safety limits defined in this study\n* Will deliver outside the United States or plans for regular pediatric care for the child to be delivered outside the United States\n* Is a prisoner\n* Any other reason that, in the opinion of the investigator, would render the individual unsuitable for participation in the study\n* Inability for study team to obtain translated study documents in time for participation if participant is not fluent in English\n\nPediatric: For the child, discontinuation criteria are as follows:\n\n* Infant does not have severe hemophilia A defined by a baseline FVIII:C \\\u003C 0.01 IU\u002FmL (or FVIII:C \\\u003C 1%) or does not have a genotype predicted to cause severe hemophilia A\n* Mother or child did not have minimal required study samples or data collected before birth, around the time of delivery, or in the neonatal period\n* Child has another clinically significant bleeding disorder\n* Child has a clinically severe immune disorder\n* Participation in another study for which any blood collection total would exceed safety limits defined in this study\n* Any other reason that, in the opinion of the investigator, would render the individual unsuitable for participation in the study",{"count":137,"type":22},500,"OBSERVATIONAL","This study longitudinally observes the intergenerational (mother-child) continuum in hemophilia A from pregnancy through early childhood. Because the study follows mother-child pairs, the study includes both a maternal cohort and a pediatric cohort. Each cohort has a primary goal: for the mother with a severe hemophilia genotype, the overarching primary goal is to understand the risks for pregnancy-associated bleeding and postpartum hemorrhage (PPH); for the child, the overarching primary goal is to understand the risks, timing, and circumstances of development of anti-FVIII antibodies. From a longitudinal perspective, risks for both bleeding in the mother and anti-FVIII antibody development in the child are expected to be influenced over time by genetic and environmental factors that begin early in (or before) pregnancy. Enrollment of blood relatives is offered to improve power to better understand inherited contributions to bleeding and inhibitor development in the mother-baby pairs.",[141,142,143,144,145,146,147,148,149,150,151,152,36],"Hemophilia A","Hemophilia A, Severe","Factor VIII (FVIII)","FVIII Deficiency","Carrier of Hemophilia A","Inhibitors","Pregnancy","Maternal Blood Loss","Pregnancy Complications","Bleeding Disorder","Hemorrhage, Postpartum","Alloimmunization",[147,154,155,150,156,157,141,158,159,160,161],"Inhibitor","Bleeding","Maternal Child Health","Hemophilia","Hemophilia A Carrier","Hemophilia A Symptomatic Carrier","Coagulation","Factor VIII","RECRUITING","2026-02-09",{"date":165,"type":61},"2026-02-17",{"date":167,"type":61},"2024-07-31",{"date":169,"type":22},"2029-08",{"name":171,"class":114},"University of Washington"]