[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"lysosomal-acid-lipase-deficiency\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:lysosomal-acid-lipase-deficiency":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,38],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":4,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":26,"lastUpdatePostDateStruct":27,"startDateStruct":30,"completionDateStruct":32,"leadSponsor":34,"locationsCount":37},"100627994","lysosomal-acid-lipase-deficiency-in-risk-groups-100627994",false,"NCT07455864","Lysosomal Acid Lipase Deficiency in Risk Groups","A Multicenter Real-world Observational Study of the Prevalence, Diagnostic Pathways, and Clinical Characteristics of Lysosomal Acid Lipase Deficiency in Pediatric and Adolescent Risk Groups in the Russian Federation (HELIOS)","HELIOS","Inclusion Criteria\n\nAge 12 months to 18 years (infantile form is out of scope for the analytical component);\n\nPatients not previously evaluated for LAL-D (test-naïve);\n\nPresence of at least one (1) of the following major criteria:\n\nUnexplained hepatomegaly and\u002For splenomegaly persisting ≥3 months;\n\nPersistent hypertransaminasemia: ALT or AST ≥ 1.5× upper limit of normal (ULN) after exclusion of common metabolic\u002Finfectious causes;\n\nAtherogenic dyslipidemia: elevated total cholesterol (TC), elevated LDL-C and\u002For reduced HDL-C (LDL-C \\>95th percentile for age and sex or HDL-C \\\u003C5th percentile); triglycerides not markedly elevated.\n\nPresence of at least two (2) of the following minor criteria:\n\nChronic diarrhea or intermittent unstable bowel movements;\n\nAbdominal pain and\u002For bloating;\n\nLoss of appetite;\n\nNausea, vomiting;\n\nBelching, heartburn;\n\nWeight loss, growth deceleration (height\u002Fweight lag behind peers);\n\nWeakness, easy fatigability;\n\nRecurrent aphthous stomatitis (oral mucosal ulcers);\n\nSplenomegaly (if not counted as a major criterion);\n\nAnemia and\u002For thrombocytopenia;\n\nEvidence of steatosis\u002Ffibrosis by ultrasound\u002Felastography\u002F liver examination by MRI;\n\nSuboptimal response to lipid-lowering therapy: after ≥3 months of optimized therapy (maximally tolerated statin ± ezetimibe with documented adherence), LDL-C reduction \\\u003C50% from baseline OR on-treatment LDL-C remains above guideline targets (e.g., ≥3.4 mmol\u002FL without very high risk or ≥2.6 mmol\u002FL in very-high-risk settings), despite therapy \\[12\\].\n\nFamily history of FH-like dyslipidemia without typical FH genetic markers (if available).\n\nProvision of signed and dated written informed consent by parent(s)\u002Flegal guardian(s) (and the child, where applicable).\n\nExclusion Criteria\n\nConfirmed alternative etiology fully explaining liver disease\u002Fdyslipidemia (e.g., hepatitis A\u002FB\u002FC, autoimmune hepatitis by diagnostic criteria) without grounds to suspect LAL-D;\n\nWolman disease;\n\nLong-term use of systemic corticosteroids which is defined as oral or parenteral continuous administration during ≥14 days in the last 6 months prior to the inclusion.","ALL",{"count":19,"type":20},1200,"ESTIMATED","OBSERVATIONAL","A multicenter real-world observational study of the prevalence, diagnostic pathways, and clinical characteristics of lysosomal acid lipase deficiency in pediatric and adolescent risk groups in the Russian Federation (HELIOS)",[24],"Lysosomal Acid Lipase Deficiency","RECRUITING","2026-05-14",{"date":28,"type":29},"2026-05-15","ACTUAL",{"date":31,"type":29},"2026-02-25",{"date":33,"type":20},"2028-06-30",{"name":35,"class":36},"AstraZeneca","INDUSTRY",4,{"id":39,"slug":40,"hasResults":11,"nctId":41,"briefTitle":42,"officialTitle":43,"acronym":44,"eligibilityCriteria":45,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":46,"targetDuration":48,"studyType":21,"phases":4,"briefSummary":49,"conditions":50,"keywords":4,"overallStatus":25,"whyStopped":4,"lastUpdateSubmitDate":57,"lastUpdatePostDateStruct":58,"startDateStruct":60,"completionDateStruct":62,"leadSponsor":64,"locationsCount":66},"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":47,"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.",[24,51,52,53,54,55,56],"Cholesterol Ester Storage Disease","Wolman Disease","Acid Cholesteryl Ester Hydrolase Deficiency, Type 2","Acid Lipase Deficiency","LIPA Deficiency","LAL-Deficiency","2026-03-04",{"date":59,"type":29},"2026-03-06",{"date":61,"type":29},"2013-05-30",{"date":63,"type":20},"2029-08-30",{"name":65,"class":36},"Alexion Pharmaceuticals, Inc.",104]