[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"wolman-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:wolman-disease":32},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,56,88],{"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":94,"eligibilityCriteria":95,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":96,"targetDuration":98,"studyType":22,"phases":4,"briefSummary":99,"conditions":100,"keywords":4,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":107,"lastUpdatePostDateStruct":108,"startDateStruct":110,"completionDateStruct":112,"leadSponsor":114,"locationsCount":117},"100181221","lysosomal-acid-lipase-lal-deficiency-registry-100181221","NCT01633489","Lysosomal Acid Lipase (LAL) Deficiency Registry","An Observational Disease and Clinical Outcomes Registry of Patients With Lysosomal Acid Lipase (LAL) Deficiency","ALX-LALD-501","Patients must have a confirmed diagnosis of LAL Deficiency. An Informed Consent and Authorization must be obtained prior to patient enrollment where required under applicable laws and regulations, or a waiver must be obtained by the Institutional Review Board\u002FIndependent Ethics Committee.\n\nPatients cannot be currently participating in an Alexion-sponsored clinical trial. Patients who have concluded participation in an Alexion-sponsored sebelipase alfa clinical trial are eligible to enroll in this Registry, and enrollment in the Registry will not exclude a patient from enrolling in a future clinical trial.",{"count":97,"type":20},300,"10 Years","This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency. Participation in the Registry by both physicians and patients is voluntary.",[101,102,32,103,104,105,106],"Lysosomal Acid Lipase Deficiency","Cholesterol Ester Storage Disease","Acid Cholesteryl Ester Hydrolase Deficiency, Type 2","Acid Lipase Deficiency","LIPA Deficiency","LAL-Deficiency","2026-03-04",{"date":109,"type":47},"2026-03-06",{"date":111,"type":47},"2013-05-30",{"date":113,"type":20},"2029-08-30",{"name":115,"class":116},"Alexion Pharmaceuticals, Inc.","INDUSTRY",104]