[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"pompe-disease-infantile-onset\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:pompe-disease-infantile-onset":30},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,56,88,110],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":33,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100486886","registry-of-patients-diagnosed-with-lysosomal-storage-diseases-100486886",false,"NCT05619900","Registry of Patients Diagnosed With Lysosomal Storage Diseases","LSD Registry","Inclusion Criteria:\n\n* Patients aged 0-64 with a diagnosis of a lysosomal storage disease\n* Pregnant patients whose fetus has a diagnosis of a lysosomal storage disease\n\nExclusion Criteria:\n\n* There are no current exclusion criteria","ALL","64 Years",{"count":19,"type":20},250,"ESTIMATED","15 Years","OBSERVATIONAL","This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.",[25,26,27,28,29,30,31,32],"Mucopolysaccharidosis I","Mucopolysaccharidosis II","Mucopolysaccharidosis IV A","Mucopolysaccharidosis VI","Mucopolysaccharidosis VII","Pompe Disease Infantile-Onset","Neuronopathic Gaucher Disease","Wolman Disease",[34,35,36,37,38,39,25,26,40,28,29,30,31,32,41,42],"Lysosomal Storage Disease","LSDs","Inborn Error of Metabolism","Hurler Syndrome","Sly Syndrome","Hunter Syndrome","Mucopolysaccharidosis IVa","MPS","Mucopolysaccharidosis","RECRUITING","2026-04-06",{"date":46,"type":47},"2026-04-08","ACTUAL",{"date":49,"type":47},"2022-05-31",{"date":51,"type":20},"2050-05-31",{"name":53,"class":54},"University of California, San Francisco","OTHER",1,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":60,"acronym":61,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":63,"minAge":64,"maxAge":65,"enrollmentInfo":66,"targetDuration":4,"studyType":68,"phases":69,"briefSummary":71,"conditions":72,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":80,"lastUpdatePostDateStruct":81,"startDateStruct":83,"completionDateStruct":85,"leadSponsor":87,"locationsCount":55},"100403342","phase-1-pearl-prenatal-enzyme-replacement-therapy-for-lysosomal-storage-disorders-100403342","NCT04532047","PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)","PEARL","Inclusion Criteria:\n\n* Live male or female fetuses at 18 0\u002F7 weeks to 34 6\u002F7 weeks gestation\n* Diagnosis of one of the 8 included LSDs in utero by genetic or enzymatic analyses performed on amniotic fluid, fetal blood, placental tissue, or other samples through chorionic villus sampling (CVS), amniocentesis, cordocentesis, cell free fetal DNA, or other procedures. In the event that parents are identified as genetic carriers for a LSD, diagnostic testing for the fetus would be performed to confirm the diagnosis\n* Pregnant women age 18 years to 50 years, carrying a live male or female fetus at 18 0\u002F7 weeks to 34 6\u002F7 weeks gestation\n* Identified through the above listed means to be carrying a fetus with an LSD.\n* Ability to give written informed consent and comply with the requirements of the study.\n\nExclusion Criteria:\n\n* Fetuses with a concurrent severe structural anomaly\n* Fetuses with an additional pathogenic genetic variant not related to the underlying LSD that contribute a significant risk of morbidity or mortality.\n\nHydrops fetalis will not be an exclusion criterion because ERT has the possibility of significant benefit in this situation.\n\n* Women with one or more significant comorbidities that would preclude fetal intervention including, but not limited to:\n\n  1. inability to complete the procedure secondary to maternal body habitus or placental location\n  2. significant cardiopulmonary disease\n  3. mirror syndrome\n  4. end organ failure\n  5. altered mental status\n  6. placental abruption\n  7. active preterm labor\n  8. preterm premature rupture of membranes.\n* Mother will require therapeutic dosing of anticoagulation within 24 hours prior to or following the intervention.","FEMALE","18 Years","50 Years",{"count":67,"type":20},10,"INTERVENTIONAL",[70],"PHASE1","For detailed information, please view our study website: https:\u002F\u002Fpearltrial.ucsf.edu\u002F\n\nThe investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.",[73,74,75,76,77,78,79,30,32],"MPS I","MPS II","MPS IVA","MPS VI","Mps VII","Gaucher Disease, Type 2","Gaucher Disease, Type 3","2026-03-14",{"date":82,"type":47},"2026-03-17",{"date":84,"type":47},"2021-07-01",{"date":86,"type":20},"2032-07-31",{"name":53,"class":54},{"id":89,"slug":90,"hasResults":11,"nctId":91,"briefTitle":92,"officialTitle":93,"acronym":4,"eligibilityCriteria":94,"healthyVolunteers":11,"sex":16,"minAge":95,"maxAge":96,"enrollmentInfo":4,"targetDuration":4,"studyType":97,"phases":4,"briefSummary":98,"conditions":99,"keywords":100,"overallStatus":103,"whyStopped":4,"lastUpdateSubmitDate":104,"lastUpdatePostDateStruct":105,"startDateStruct":4,"completionDateStruct":4,"leadSponsor":107,"locationsCount":5},"100387687","expanded-access-for-atb200at2221-for-the-treatment-of-iopd-100387687","NCT04327973","Expanded Access for ATB200\u002FAT2221 for the Treatment of IOPD","Expanded Use Of Recombinant Human Acid Alpha-Glucosidase\u002FN-butyl-deoxynojirimycin (ATB200\u002FAT2221) For Patients With Infantile-Onset Pompe Disease","Inclusion Criteria:\n\n1. Patient is male or female and 0 to \\\u003C 18 years old.\n2. Patient has a diagnosis of Pompe disease, based on documentation of GAA genotyping demonstrating variants associated with IOPD.\n3. Patient does not currently qualify for or is unable to enroll (eg, due to location, etc) in any commercial drug-sponsored ongoing clinical trial.\n4. Patient is currently being treated with an approved ERT and is declining (eg, worsening in motor function, respiratory function\u002Fparameters, cardiac function, etc) based on treating physician's clinical judgement.\n5. The patient's legal guardian or representative has given informed consent (and assent when age appropriate for regional requirements) to treatment prior to administering ATB200\u002FAT2221 in a manner consistent with all national requirements.\n6. If of reproductive potential and sexually active, female subjects agree to use a highly effective method of contraception throughout the duration of the treatment and for up to 90 days after their last dose of ATB200\u002FAT2221.\n\nExclusion Criteria:\n\n1. Patient has a hypersensitivity to any of the excipients in ATB200, alglucosidase alfa, or AT2221\n2. Patient has a medical or any other extenuating condition or circumstance that may, in the opinion of the investigator and\u002For Amicus, pose an undue safety risk to the patient.\n3. Concomitant use of miglitol (eg, Glyset), non-AT2221 form of miglustat (eg, Zavesca), acarbose (eg, Precose or Glucobay), voglibose (eg, Volix, Vocarb,or Volibo)","0 Years","17 Years","EXPANDED_ACCESS","This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200\u002FAT2221.",[30],[101,102],"expanded access","compassionate use","AVAILABLE","2025-09-09",{"date":106,"type":47},"2025-09-10",{"name":108,"class":109},"Amicus Therapeutics","INDUSTRY",{"id":111,"slug":112,"hasResults":11,"nctId":113,"briefTitle":114,"officialTitle":114,"acronym":115,"eligibilityCriteria":116,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":117,"targetDuration":4,"studyType":68,"phases":119,"briefSummary":121,"conditions":122,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":128,"lastUpdatePostDateStruct":129,"startDateStruct":131,"completionDateStruct":133,"leadSponsor":135,"locationsCount":55},"100580145","transcriptomic-analysis-to-put-an-end-to-misdiagnosis-in-patients-with-rare-muscle-diseases-100580145","NCT06833489","Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases","ARNseq-Musc","Inclusion Criteria:\n\n* patients with rare genetic muscle diseases who have benefited from high-throughput sequencing analysis (panel of 200 genes defined by the FILNEMUS Rare Neuromuscular Disease Network) carried out at the Molecular Genetics Laboratory, Medical Genetics Department, Timone Enfant Hospital since 2017.\n\nThis criterion is necessary to limit the analysis to patients with muscular diseases among all the patients analysed by the Molecular Genetics Laboratory.\n\n* this genetic analysis did not identify pathogenic variants explaining the patient's phenotype This criterion is necessary in order to include only patients in diagnostic error.\n* a muscle biopsy of the patient is available in the Biological Resources Centre (CRB) at the AP-HM.\n\nExclusion Criteria:\n\n* Patients with no muscle biopsy available in the CRB.\n* Patients with an established molecular diagnosis.\n* Patients for whom RNA extraction from a muscle biopsy sample did not yield RNA of sufficient quality (INR \\>7) will be excluded from the study. A maximum of two extraction attempts will be performed.",{"count":118,"type":20},50,[120],"NA","Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases. The researchers hypothesise that some of these misdiagnosed patients carry pathogenic RNA (transcript) disrupting variants that were not identified by DNA sequencing. In fact, DNA sequencing analyses can be negative despite the presence of a pathogenic variant that disrupts RNA splicing or expression, causing a genetic disease. For this reason, RNA sequencing can provide a diagnosis in patients who have not been diagnosed by DNA sequencing, thus putting an end to diagnostic wandering. Thus, as a descriptive prevalence study, the objectives are first to determine the rate of positive diagnoses made by the RNAseq approach in patients with muscle diseases that have not yet been diagnosed, and then to identify the genomic characteristics of the pathogenic variants identified in patients by RNAseq analysis, in order to facilitate the identification of this type of variant in future patients.\n\n50 patients will be included in this study during 2 years.",[123,124,125,126,127],"Rare Genetic Muscle Diseases","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Congenital Myopathy","Pompe Disease (Infantile-Onset)","2025-02-17",{"date":130,"type":47},"2025-02-18",{"date":132,"type":20},"2025-03-01",{"date":134,"type":20},"2027-03-01",{"name":136,"class":54},"Assistance Publique Hopitaux De Marseille"]