[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"homozygous-familial-hypercholesterolemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:homozygous-familial-hypercholesterolemia":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,40,76,99,127,149],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100595847","phase-3-a-phase-3-study-of-zodasiran-in-adolescent-and-adult-subjects-with-homozygous-familial-hypercholesterolemia-yosemite-100595847",false,"NCT07037771","A Phase 3 Study of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)","Phase 3 Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)","Inclusion Criteria:\n\n* Age ≥12 years, non pregnant, non lactating, do not plan to become pregnant during the study\n* Body weight ≥35 kg at Screening as patients could theoretically be \\\u003C35 kg as the study continues.\n* HoFH based on a supportive genetic test or a clinical diagnosis (total cholesterol \\>500 mg\u002FdL\\[13 mmol\u002FL\\] OR treated LDL-C concentration of ≥300 mg\u002FdL \\[≥8 mmol\u002FL\\] either accompanied by TGs \\\u003C300 mg\u002FdL \\[3.4 mmol\u002FL\\] AND both parents with documented total cholesterol \\>250 mg\u002FdL \\[6.5 mmol\u002FL\\] OR cutaneous or tendinous xanthoma before 10 years of age)\n* LDL-C ≥70 mg\u002FdL (1.8 mmol\u002FL). For adolescents 12 to \\\u003C18 years of age, screening LDL-C ≥116 mg\u002FdL (3 mmol\u002FL).\n* Hemoglobin A1c (HbA1c) ≤9.5%\n* Total bilirubin \\\u003C2xULN, unless in previously confirmed cases of Gilbert's syndrome\n* Alanine aminotransferase or aspartate aminotransferase \\\u003C3×ULN\n* On standard of care, maximally tolerated lipid-lowering therapy to include a maximally tolerated statin, ezetimibe, and a PCSK9 inhibitor\n\nExclusion Criteria:\n\n* Use of a hepatocyte-targeted siRNA within 365 days before Day 1 (except inclisiran, which is permitted; administration of inclisiran and study drug must be separated by at least 4 weeks)\n* Use of an antisense oligonucleotide molecule within 3 months before Day 1 (except inclisiran, which is permitted; administration of inclisiran and study drug must be separated by at least 4 weeks)\n* Use of evinacumab within 3 months before Day 1. Evinacumab use is prohibited during the study.\n* Non-response to evinacumab, defined as LDL-C reduction \\\u003C15% from baseline after 2 doses\n* Use of any other investigational agent or device within 30 days or 5 half-lives (whichever is longer) before Day 1\n* Use of systemic corticosteroids (unless used as replacement therapy for pituitary\u002Fadrenal disease with a stable regimen)\n* Estimated glomerular filtration rate \\\u003C30 mL\u002Fmin\n\nNOTE: Additional Inclusion\u002Fexclusion criteria may apply per protocol","ALL","12 Years",{"count":19,"type":20},60,"ESTIMATED","INTERVENTIONAL",[23],"PHASE3","This multicenter, randomized, placebo-controlled study will evaluate the efficacy and safety of zodasiran subcutaneous (SC) injection in subjects 12 years of age and older with genetically or clinically diagnosed Homozygous familial hypercholesterolemia (HoFH). After completion of the double blind (DB) treatment period subjects will be eligible to continue in the optional open-label extension (OLE) period of the study. All placebo subjects who opt to continue will transition to active drug during the OLE Period.",[26],"Homozygous Familial Hypercholesterolemia","RECRUITING","2026-06-09",{"date":30,"type":31},"2026-06-10","ACTUAL",{"date":33,"type":31},"2025-06-17",{"date":35,"type":20},"2027-08-20",{"name":37,"class":38},"Arrowhead Pharmaceuticals","INDUSTRY",43,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":46,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":48,"enrollmentInfo":49,"targetDuration":4,"studyType":21,"phases":51,"briefSummary":52,"conditions":53,"keywords":54,"overallStatus":67,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":4},"100629374","phase-3-study-of-zodasiran-in-adolescent-participants-with-homozygous-familial-hypercholesterolemia-100629374","NCT07473843","Study of Zodasiran in Adolescent Participants With Homozygous Familial Hypercholesterolemia","Phase 3 Single-Arm Open-Label Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent Participants (Age 12 to \u003C18 Years) With Homozygous Familial Hypercholesterolemia (SPRUCE)","SPRUCE","Inclusion Criteria:\n\n* Adolescents 12 to \\\u003C18 years of age who are nonpregnant, nonlactating, and do not plan to become pregnant during the study\n* Body weight ≥35 kilograms (kg) at screening\n* HoFH based on a supportive genetic test (from a source-verifiable medical record or based on screening genotype) or clinical diagnosis\n* Screening LDL-C ≥116 mg\u002FdL (3 mmol\u002FL)\n* Screening hemoglobin A1c (HbA1c) ≤9.5%\n* Total bilirubin \\\u003C2×upper limit of normal (ULN), unless in previously confirmed cases of Gilbert's syndrome\n* Alanine aminotransferase or aspartate aminotransferase \\\u003C3×ULN\n\nExclusion Criteria:\n\n* Use of a hepatocyte-targeted siRNA within 365 days before Day 1 (except inclisiran, which is permitted; administration of inclisiran and study drug must be separated by at least 4 weeks)\n* Use of an antisense oligonucleotide molecule within 3 months before Day 1\n* Use of evinacumab within 3 months before Day 1\n* Non-response to evinacumab, defined as LDL-C reduction \\\u003C15% from baseline after 2 doses\n* Use of systemic corticosteroids (unless used as replacement therapy for pituitary\u002Fadrenal disease with a stable regimen)\n\nNOTE: Additional inclusion\u002Fexclusion criteria may apply per protocol","17 Years",{"count":50,"type":20},12,[23],"This study will evaluate the efficacy and safety of zodasiran subcutaneous (sc) injection in participants 12 to \\\u003C18 years of age with genetically or clinically diagnosed homozygous familial hypercholesterolemia (HoFH) and low-density lipoprotein cholesterol (LDL-C) ≥116 milligrams per deciliter (mg\u002FdL) on maximally tolerated lipid-lowering therapy.",[26],[55,56,57,58,59,60,61,62,63,64,65,26,66],"Hyperlipoproteinemia Type II","Lipid Metabolism, Inborn Errors","Metabolism, Inborn Errors","Genetic Diseases, Inborn","Congenital, Hereditary, and Neonatal Diseases and Abnormalities","Hyperlipoproteinemias","Hyperlipidemias","Dyslipidemias","Lipid Metabolism Disorders","Metabolic Diseases","Nutritional and Metabolic Diseases","Zodasiran","NOT_YET_RECRUITING","2026-05-27",{"date":70,"type":31},"2026-05-29",{"date":72,"type":20},"2026-08",{"date":74,"type":20},"2028-08",{"name":37,"class":38},{"id":77,"slug":78,"hasResults":11,"nctId":79,"briefTitle":80,"officialTitle":80,"acronym":4,"eligibilityCriteria":81,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":82,"targetDuration":4,"studyType":83,"phases":4,"briefSummary":84,"conditions":85,"keywords":86,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":88,"lastUpdatePostDateStruct":89,"startDateStruct":91,"completionDateStruct":93,"leadSponsor":95,"locationsCount":98},"100141239","the-rogosin-institute-homozygous-familial-hypercholesterolemia-repository-100141239","NCT01109368","The Rogosin Institute Homozygous Familial Hypercholesterolemia Repository","Inclusion criteria:\n\n1\\. Patients of any age and sex who meet clinical or genetic criteria for hoFH as follows:\n\n* Documented, untreated fasting LDL cholesterol level of \\> 500 mg\u002FdL and triglycerides \\\u003C 200 mg\u002FdL on a cholesterol-lowering diet for at least 8 weeks with secondary causes excluded, AND:\n\n  * DNA confirmation of a double mutation of the LDL receptor or apoB gene OR\n  * LDL \\> 160 mg\u002FdL in both biological parents not associated with a disorder know to elevate LDL OR\n  * Coronary artery disease in one or both parents or grandparents \\\u003C 55 years for males, \\\u003C 65 for females OR\n  * Tendinous\u002Fcutaneous xanthomas \\\u003C age 10 or coronary artery disease \\\u003C age 20\n\nExclusion criteria:\n\n1\\. Inability of patient, or, if less than 18, a parent, to sign informed consent.",{"count":19,"type":20},"OBSERVATIONAL","This repository will establish for the first time a system to carefully assess and monitor over time the general health and the amount of cholesterol in the arteries of U.S. children and adults with homozygous familial hypercholesterolemia (hoFH). Patients with this very rare disorder have very high blood levels of cholesterol from birth due to the inheritance of an abnormal gene from each parent. As a result, if untreated, heart attacks and sudden death occur in childhood. Treatments such as LDL-apheresis and liver transplant will lower the cholesterol level, but the best treatment and the best way to monitor the effect of the treatment on the arteries are unknown. The collection of clinical data and blood for analysis of known and yet-to-be discovered markers and predictors of arterial disease will yield new information about the natural history of the disorder and response to treatment. The repository will greatly aid the development of specific protocols that seek to learn more about this disease and new therapies.",[26],[87],"Autosomal Dominant Familial Hypercholesterolemia","2026-03-31",{"date":90,"type":31},"2026-04-06",{"date":92,"type":31},"2010-06",{"date":94,"type":20},"2030-05",{"name":96,"class":97},"The Rogosin Institute","OTHER",1,{"id":100,"slug":101,"hasResults":11,"nctId":102,"briefTitle":103,"officialTitle":104,"acronym":105,"eligibilityCriteria":106,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":107,"targetDuration":109,"studyType":83,"phases":4,"briefSummary":110,"conditions":111,"keywords":112,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":117,"lastUpdatePostDateStruct":118,"startDateStruct":120,"completionDateStruct":122,"leadSponsor":124,"locationsCount":126},"100425061","hofh-the-international-clinical-collaborators-registry-100425061","NCT04815005","HoFH, the International Clinical Collaborators Registry","HoFH, the International Clinical Collaborators - A Global HoFH Data-sharing Platform","HICC","Inclusion Criteria:\n\n* Diagnosis of homozygous familial hypercholesterolemia (HoFH) clinically of genetically determined\n\nExclusion Criteria:\n\n* No diagnosis of HoFH",{"count":108,"type":20},1000,"1 Day","Homozygous familial hypercholesterolemia (HoFH), a rare inherited disorder caused by bi-allelic mutations in the LDL Receptor pathway, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) from birth and premature atherosclerotic cardiovascular disease (ASCVD). Our current knowledge about HoFH is disjointed and largely stems from relatively small case series and expert opinion. HICC (Homozygous FH International Clinical Collaborators) is a global consortium of clinicians who are contributing de-identified data of patients diagnosed with HoFH with the goal to advance our understanding of this rare disease.",[26],[26,113,114,115,116],"Autosomal Dominant","Hypercholesterolemia","Autosomal Recessive Hypercholesterolemia","Registry","2025-12-10",{"date":119,"type":31},"2025-12-18",{"date":121,"type":31},"2017-01-24",{"date":123,"type":20},"2026-12-31",{"name":125,"class":97},"University of Pennsylvania",4,{"id":128,"slug":129,"hasResults":11,"nctId":130,"briefTitle":131,"officialTitle":132,"acronym":4,"eligibilityCriteria":133,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":134,"targetDuration":4,"studyType":21,"phases":136,"briefSummary":138,"conditions":139,"keywords":4,"overallStatus":67,"whyStopped":4,"lastUpdateSubmitDate":140,"lastUpdatePostDateStruct":141,"startDateStruct":143,"completionDateStruct":145,"leadSponsor":147,"locationsCount":98},"100603230","phase-2-evaluate-the-long-term-efficacy-and-safety-of-shr-1918-in-patients-with-homozygous-familial-hypercholesterolemia-100603230","NCT07133815","Evaluate the Long-term Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia","A Multicenter, Single Arm, Open Label Phase II Clinical Study Evaluating the Long-term Efficacy and Safety of SHR-1918 in Homozygous Familial Hypercholesterolemia Patients","Inclusion Criteria:\n\n1. Able and willing to provide a written informed consent\n2. Subjects who received and completed the SHR-1918-301 study treatment in previous studies and were deemed to have therapeutic benefits by the researchers\n\nExclusion Criteria:\n\n1. Known to be allergic to the investigational drug or any component of the investigational drug, or to have experienced severe allergic reactions to other antibody drugs;\n2. History of malignant tumors in the past 5 years;\n3. There are serious concurrent diseases\n4. Pregnant or lactating women;\n5. The researchers determined that the subjects had poor compliance or any inappropriate factors for participating in this trial",{"count":135,"type":20},55,[137],"PHASE2","A multicenter, single arm, open label phase II clinical study evaluating the long-term efficacy and safety of SHR-1918 in homozygous familial hypercholesterolemia patients",[26],"2025-08-14",{"date":142,"type":31},"2025-08-21",{"date":144,"type":20},"2025-08",{"date":146,"type":20},"2027-12",{"name":148,"class":38},"Beijing Suncadia Pharmaceuticals Co., Ltd",{"id":150,"slug":151,"hasResults":11,"nctId":152,"briefTitle":153,"officialTitle":154,"acronym":4,"eligibilityCriteria":155,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":156,"enrollmentInfo":157,"targetDuration":4,"studyType":21,"phases":158,"briefSummary":160,"conditions":161,"keywords":162,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":166,"lastUpdatePostDateStruct":167,"startDateStruct":169,"completionDateStruct":171,"leadSponsor":173,"locationsCount":98},"100525754","early-phase-1-nggt006-gene-therapy-for-homozygous-familial-hypercholesterolemia-100525754","NCT06125847","NGGT006 Gene Therapy for Homozygous Familial Hypercholesterolemia","A Clinical Study for the Safety and Efficacy of Intravenous Infusion of NGGT006 in Treatment of Homozygous Familial Hypercholesterolemia With LDLR Mutations","Inclusion Criteria:\n\n* Voluntarily sign informed consent form;\n* Male or female, 12 ≤ age ≤ 55 years (first patient≥ 18 years), diagnosed as homozygous familial hypercholesterolemia with genetic confirmation of two mutant alleles of the LDL receptor (LDLR) gene;\n* AAV8 neutralizing antibodies can be negative or reduced to negative levels through methods such as plasma exchange.\n* Untreated LDL-C ≥10 mmol\u002FL (386mg\u002F dL) or treated LDL-C ≥7 mmol\u002FL (270mg\u002F dL) together with cutaneous or tendon xanthoma before age 18 years;\n* Had been on stable medication for ≥30 days if receiving lipid-lowering therapy (or ≥60 days if receiving alirocumab or evolocumab) prior to screening and not scheduled for addition of new drugs or dose adjustments during the study;\n* Agreed to follow a low-fat diet and comply with all study procedures;\n* Agreed to maintain a similar exercise volume and intensity to baseline during the study period;\n* Agreed to maintain good lifestyle habits;\n* No history of alcohol abuse or alcohol dependence (diagnosed as F10 in ICD-10 code);\n* No sexual activity for 14 days prior to administration and negative serum pregnancy test in female participants;\n* Participants of childbearing potential agreed to use highly effective contraception for at least 365 days from administration of NGGT006;\n* No plan of stent implantation within 3 months.\n\nExclusion Criteria:\n\n* Positive for hepatitis B surface antigen, hepatitis C, human immunodeficiency virus (HIV) or syphilis test;\n* Clinically significant abnormalities in liver function test: alanine aminotransferase (ALT) ≥2 × upper limit of normal (ULN) and\u002For aspartate aminotransferase (AST) ≥2 × ULN;\n* Baseline blood pressure ≥160\u002F100 mmHg (1 repeat measurement is allowed);\n* Uncontrolled myocardial infarction or heart failure, or had surgery plan within 1 year;\n* Diabetes diagnosed within 3 months or with poor control (HbA1c ≥9%);\n* Acute or chronic kidney failure;\n* Hemoglobin (Hb) ≥120g\u002FL (male), Hb ≥110 (female);\n* Abnormal platelet counts or morphology;\n* History or laboratory tests suggestive of thrombosis;\n* Had contraindications to glucocorticoid (e.g., epilepsy, severe schizophrenia, active peptic ulcer);\n* Life expectancy less than 1 year;\n* With malignant tumors;\n* Liver fibrosis or liver cancer;\n* Previous gene therapy treatment;\n* Hypersensitivity to AAV or cortisone or immunosuppressants (sirolimus, rituximab, tacrolimus);\n* Participation in any other clinical trial within 3 months;\n* History of stent implantation within 1 month or myocardial infarction within 3 months;\n* Breastfeeding females;\n* Any other condition that may not be appropriate for the study in the opinion of the Investigator.","55 Years",{"count":50,"type":20},[159],"EARLY_PHASE1","This is an early phase 1, open-label, single-center, dose-escalation, pilot trial to evaluate the safety and efficacy of an intravenous infusion of NGGT006 in homozygous familial hypercholesterolemia (HoFH) patients with LDLR mutations. NGGT006 is an adeno-associated viral (AAV) vector carrying codon-optimized human LDLR gene, driving the expression of LDLR protein with normal function and promoting the clearance of low-density lipoprotein cholesterol (LDL-C).",[26],[163,164,165],"Homozygous familial hypercholesterolemia","Gene therapy","Low-density lipoprotein cholesterol","2024-12-04",{"date":168,"type":31},"2024-12-09",{"date":170,"type":31},"2023-10-29",{"date":172,"type":20},"2028-11",{"name":174,"class":97},"First Affiliated Hospital Xi'an Jiaotong University"]