[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"homozygous-familial-hypercholesterolemia-hofh\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:homozygous-familial-hypercholesterolemia-hofh":33},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,52,79,114],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":37,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":41,"startDateStruct":44,"completionDateStruct":46,"leadSponsor":48,"locationsCount":51},"100630707","phase-1-a-safety-and-tolerability-trial-evaluating-ctx310-in-participants-with-refractory-dyslipidemias-100630707",false,"NCT07491172","A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias","A Phase 1 Open-label, Multicenter, First-in-human, Ascending Dose Trial Evaluating the Safety and Tolerability of a Lipid Nanoparticle Formulation of CRISPR-Guide RNA-Cas9 Nuclease (CTX310) for In Vivo Editing of the Angiopoietin-like 3 (ANGPTL3) Gene in Participants With Refractory Dyslipidemias","Key Inclusion Criteria:\n\n1. Age of ≥18 and ≤75 years at the time of signing the informed consent.\n2. Able to provide written informed consent.\n3. Participants diagnosed with persistent dyslipidemias defined by TG ≥150 mg\u002FdL - and LDL-C ≥70 mg\u002FdL in participants with ASCVD, or LDL-C ≥70 or 100mg\u002FdL in participants with or without ASCVD respectively, or TG ≥500 mg\u002FdL.\n4. Refractory to the maximal intensity or MTD of standard of care lines of lipid-lowering therapies available through routine clinical care, for at least 12 weeks prior to screening\n5. Female participants must be postmenopausal or surgically sterile.\n6. All male participants and their female partners must agree to the use of an acceptable method of effective contraception for the duration of the study.\n\nExclusion Criteria:\n\n1. Participants with familial chylomicronemia syndrome (FCS). Some exceptions may apply.\n2. Evidence of liver disease, defined as but not limited to:\n\n   LFTS \\>2 × upper limit of normal (ULN), or total bilirubin \\>2 × ULN, or INR \\>1.5 × ULN, or liver stiffness measured by liver elastography\n3. Abnormal or compromised function of kidney, heart, blood or liver.\n4. Acute coronary syndrome event or stroke within 24 weeks prior to Day 1. Acute pancreatitis within 12 weeks prior to Day 1.\n5. Current use or use within 365 days from Day 1 of any hepatocyte-targeted small interfering RNA (except inclisiran).\n6. Positive serology for HIV, hepatitis B or hepatitis C (antibody, surface antigen orNAT). Serology consistent with prior immunization will be eligible for the trial.\n7. Any prior malignancy within the past 5 years, or current malignancy (exceptions for resected or removed basal cell carcinoma, squamous cell carcinoma in situ and carcinoma in situ of the cervix or breast).\n8. Women of childbearing potential.\n\nNote: Other protocol defined Inclusion\u002FExclusion criteria may apply.\n\nNote: The inclusion and exclusion criteria listed represent the global protocol. Additional or modified eligibility criteria may apply in certain countries in accordance with local regulatory and ethics committee requirements and the approved country-specific protocol.","ALL","18 Years","75 Years",{"count":20,"type":21},90,"ESTIMATED","INTERVENTIONAL",[24],"PHASE1","This is a single-arm, open-label, multicenter, ascending dose Phase 1 trial that will enroll participants 18 to 75 years of age with dyslipidemias that are refractory to available treatments.",[27,28,29,30,31,32,33,34,35,36],"Cardiovascular","Metabolic Disease","Dyslipidemias","Lipid Disorder","Hypertriglyceridemia","Heterozygous Familial Hypercholesterolemia (HeFH)","Homozygous Familial Hypercholesterolemia (HoFH)","Severe Hypertriglyceridemia (sHTG)","Mixed Hyperlipemia","Hypercholesterolaemia",[38],"Refractory Dyslipidemias","RECRUITING","2026-05-19",{"date":42,"type":43},"2026-05-22","ACTUAL",{"date":45,"type":43},"2024-06-21",{"date":47,"type":21},"2028-06",{"name":49,"class":50},"CRISPR Therapeutics AG","INDUSTRY",18,{"id":53,"slug":54,"hasResults":11,"nctId":55,"briefTitle":56,"officialTitle":57,"acronym":4,"eligibilityCriteria":58,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":59,"targetDuration":4,"studyType":22,"phases":61,"briefSummary":63,"conditions":64,"keywords":65,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":40,"lastUpdatePostDateStruct":70,"startDateStruct":72,"completionDateStruct":74,"leadSponsor":76,"locationsCount":78},"100630556","phase-2-a-dose-exploration-study-of-edp167-in-hofh-100630556","NCT07489209","A Dose-exploration Study of EDP167 in HoFH","A Multicenter, Dose-exploration, Open-label Phase II Study to Evaluate the Efficacy and Safety of EDP167 in Adult Patients With Homozygous Familial Hypercholesterolaemia","Inclusion Criteria:\n\n1. Age ≥18 years old, male or female, and weight ≥40 kg.\n2. Genetic diagnosis or clinical diagnosis of HoFH.\n3. Fasting serum LDL-C ≥2.6 mmol\u002FL.\n4. Follow a daily low-fat diet during the study.\n5. Receiving stable and tolerable lipid-lowering treatment or other drugs for chronic diseases treatments for certain periods before the study, and maintain the stable treatments throughout the study.\n6. Women of childbearing potential (WOCBP) must have a negative serum pregnancy test at screening and a negative pregnancy test prior to receiving EDP167 at baseline.\n7. Agree to use contraceptive measures that comply with regulations and the protocol requirements during the study, and until 6 months after the last dose.\n8. Understand the study procedures, voluntarily participate, and sign the informed consent form.\n\nExclusion Criteria:\n\n1. Allergic to the drug in this study, its components or similar drugs.\n2. Used any antisense oligonucleotide (ASO) or small interfering nucleic acid (siRNA) drugs within 12 months prior to randomization.\n3. Received treatment targeting ANGPTL3 or Apolipoprotein C3 (ApoC3), or have participated in other clinical trials within 6 months or 5 half-life (whichever longer) prior to screening.\n4. Received health supplements or other medications that have been used for lipid-lowering purposes within 4 weeks prior to screening.\n5. Received Lipoprotein apheresis within 8 weeks prior to screening.\n6. A weight change of \\>10% within 4 weeks prior to randomization, or planning to undergo weight-loss surgery or weight intervention treatment during the study period.\n7. Starting a new diet plan or having significant differences from the previous diet within 4 weeks prior to randomization.\n8. Presence of diseases that would affect lipid or lipoprotein levels, such as nephrotic syndrome, severe liver diseases, Cushing's syndrome, hypothyroidism or hyperthyroidism, etc., which are poorly controlled, and in the opinion of the Investigator will interfere with the accurate assessment of the study results.\n9. Had New York Heart Association (NYHA) grade III-IV heart failure within 12 months prior to randomization, or acute coronary syndrome or stroke within 6 months prior to randomization.\n10. Performed coronary intervention within 6 months prior to randomization, or plan to perform coronary intervention during the study.\n11. Have a history of major surgery within 3 months prior to screening, or plan to undergo major surgery during the study.\n12. History of malignancy, unless considered cured by adequate treatment with no evidence of recurrence for ≥3 years prior to the first dose of EDP167; excluding adequately treated basal cell or squamous cell carcinoma of the skin, carcinoma in situ of the cervix, carcinoma in situ of the breast, or incidental histological findings of prostate cancer (TNM stage T1a or T1b).\n13. Clinical evidence of active infections or other major or poorly controlled serious diseases, any other conditions that in the opinion of the Investigator may interfere with the study results or put the subjects at excessive risk.\n14. Have a history of current existence of alcohol or drug abuse per evaluation of the investigator.\n15. Uncontrolled hypertension at screening (blood pressure \\>160\u002F100 mmHg).\n16. Subjects with any of the following laboratory abnormalities at screening: a) fasting serum TG≥5.6 mmol\u002FL; b) Glycosylated hemoglobin A1C (HbA1c)\\>8.5%; c) alanine aminotransferase (ALT) or aspartate aminotransferase (AST) or gamma-glutamyl transpeptidase (GGT)\\>1.5×ULN (Upper Limit Of Normal), total bilirubin (TBIL)\\>2×ULN; d) prothrombin time (PT) or activated partial thromboplastin time (APTT) or International Normalized Ratio (INR) clinically significant abnormal; e) Hepatitis B surface antigen (HBsAg) or antibody to hepatitis C virus (HCVAb) or human immunodeficiency virus (HIV) positive; f) estimated glomerular filtration rate (eGFR)\\\u003C30 mL\u002Fmin\u002F1.73m2.\n17. Donated or lost blood ≥400 mL within 3 months prior to screening.\n18. Women who are pregnant, breastfeeding or planning for pregnancy.\n19. Other conditions that the Investigator would consider the subject is not suitable to participate in this study.",{"count":60,"type":21},20,[62],"PHASE2","EDP167 is a double-stranded small interfering RNA (siRNA) drug targeting angiopoietin-like 3 protein (ANGPTL3), which may bring benefits for patients with dyslipidemia conditions. This is a dose exploration study in Homozygous Familial Hypercholesterolaemia (HoFH) patients to evaluate the efficacy and safety and pharmacokinetics (PK)\u002Fpharmacodynamics (PD) profiles of multiple EDP167 injections.",[33],[66,67,68,69],"Dyslipidemia","ANGPTL3","siRNA","HoFH",{"date":71,"type":43},"2026-05-20",{"date":73,"type":43},"2026-02-06",{"date":75,"type":21},"2027-03-31",{"name":77,"class":50},"Eddingpharm (Zhuhai) Co., Ltd.",1,{"id":80,"slug":81,"hasResults":11,"nctId":82,"briefTitle":83,"officialTitle":84,"acronym":85,"eligibilityCriteria":86,"healthyVolunteers":11,"sex":16,"minAge":87,"maxAge":4,"enrollmentInfo":88,"targetDuration":4,"studyType":90,"phases":4,"briefSummary":91,"conditions":92,"keywords":94,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":113},"100627362","assessing-the-impact-of-intensification-of-lipid-lowering-therapy-with-guidelines-based-evinacumab-administration-on-coronary-plaque-volumes-measured-by-coronary-computed-tomography-angiography-ccta-in-patients-with-homozygous-familial-hypercholesterolemia-hofh-100627362","NCT07447648","Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)","Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH): A Real World, Prospective and Retrospective, Observational Study","EVOLVE-HoFH","Inclusion Criteria (intensified treatment group - Evinacumab):\n\n1. Willing and able to provide written informed consent form\u002Fassent form for the use of retrospective and prospective data.\n2. Male or female patients aged ≥12 years old at time of enrolment (exception for Italy and France ≥18 years).\n3. Clinical or genetic diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) according to the consensus statement by Cuchel et al, 2023; EHJ (14).\n4. Patients who initiated Evinacumab (at the approved dosage and administration) within 24 months before enrolment as add-on to lipid-lowering treatment (with statins, ezetimibe, PCSK9i and\u002For other agents or treatment) at stable dose for at least 30 days before Evinacumab initiation, as per routine clinical care and no change in dosing is anticipated.\n5. Availability of a baseline CCTA performed at least 6 months prior or 1 month after Evinacumab initiation and a follow-up CCTA performed 18-24 months after Evinacumab initiation.\n6. LDL-cholesterol ≥ 140 mg\u002Fdl (3.5 mmol\u002FL) despite lipid-lowering treatment.\n\nInclusion criteria (conventional treatment group - No Evinacumab)\n\n1. Willing and able to provide written informed consent form\u002Fassent form for the use of retrospective and prospective data.\n2. Male or female patients aged ≥12 years old at time of enrolment (exception for Italy and France ≥18 years).\n3. Clinical or genetic diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) according to the consensus statement by Cuchel et al, 2023; EHJ (14).\n4. Patients with HoFH on standard lipid-lowering therapy (statins, ezetimibe, PCSK9i and\u002For other agents or treatment) at stable dose for at least 30 days before a baseline CCTA and with a follow-up CCTA after 18-24 months from the baseline one.\n\n   * Required lipid lowering therapies: statin, ezetimibe and PCSK9 directed therapy (unless discontinuation due to \\\u003C15% LDL-cholesterol reduction).\n   * Optional additional lipid-lowering therapies:\n   * Lipoprotein apheresis, at stable intervals for at least 3 months.\n   * Lomitapide, at stable dose for at least 3 months.\n5. LDL-cholesterol ≥ 140 mg\u002Fdl (3.5 mmol\u002FL) despite lipid-lowering treatment.\n\nExclusion criteria (intensified treatment group - Evinacumab)\n\n1. Patients participating in a clinical trial with an investigational drug within the last 6 months.\n2. Patients treated outside of Evinacumab approved indication.\n3. Inability to access adequate retrospective clinical data from medical records.\n4. Inability or unwillingness to provide informed consent\u002Fassent or refusal to participate.\n5. Previous multi-vessel coronary artery bypass grafting (CABG). Patients with single-vessel CABG are not excluded.\n6. Pregnancy at the time of the LLT administration.\n7. Moderate to severe renal impairment, or end-stage renal disease (ESRD) undergoing kidney transplantation or chronic renal replacement therapy.\n\nExclusion criteria (conventional treatment group - No Evinacumab)\n\n1. Participation in any interventional clinical trial involving investigational drugs within the last 6 months.\n2. Inability to access adequate retrospective clinical data from medical records.\n3. Inability or unwillingness to provide informed consent\u002Fassent or refusal to participate.\n4. Previous multi-vessel coronary artery bypass grafting (CABG). Patients with single-vessel CABG are not excluded.\n5. Moderate to severe renal impairment, or end-stage renal disease (ESRD) undergoing kidney transplantation or chronic renal replacement therapy.\n6. Pregnancy at the time of the LLT administration.","12 Years",{"count":89,"type":21},52,"OBSERVATIONAL","This observational, multicenter, retrospective and prospective study aims to evaluate the impact of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerotic plaque burden in patients with Homozygous Familial Hypercholesterolemia (HoFH).\n\nHoFH is a rare genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from early life and a markedly increased risk of premature atherosclerotic cardiovascular disease. Despite combination lipid-lowering therapy, many patients do not achieve recommended LDL-C targets and remain at high cardiovascular risk.\n\nEvinacumab, a monoclonal antibody targeting angiopoietin-like protein 3 (ANGPTL3), has demonstrated significant LDL-C reduction in clinical trials. However, real-world evidence on its impact on coronary plaque progression is limited.\n\nThe study will compare HoFH patients receiving intensified lipid-lowering therapy including Evinacumab with patients receiving conventional lipid-lowering therapy without Evinacumab. Coronary plaque burden and phenotype will be assessed using coronary computed tomography angiography (CCTA) performed as part of routine clinical practice.\n\nApproximately 52 patients will be enrolled across European centers. The primary objective is to evaluate changes in non-calcified coronary plaque volume between baseline and 18-24 months' follow-up. Secondary objectives include evaluation of total plaque burden, high-risk plaque characteristics, and LDL-C reduction. Exploratory analyses will assess patient-reported outcomes, pericoronary adipose tissue characteristics, and supravalvular atherosclerosis.\n\nAll data are collected from routine clinical care. No additional procedures are mandated by the protocol. This study aims to generate real-world imaging evidence on the effect of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerosis in HoFH.",[33,93],"Coronary Computed Tomography Angiography",[95,96,97,98,99,100,101,102,93],"Evinacumab","Homozygous Familial Hypercholesterolemia","Cardiovascular Disease","LDL Cholesterol","Lipid-Lowering Therapy","Lipid Metabolism Disorders","Atherosclerosis","Rare Genetic Disorders","2026-05-12",{"date":105,"type":43},"2026-05-14",{"date":107,"type":43},"2026-04-30",{"date":109,"type":21},"2029-02",{"name":111,"class":112},"Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)","OTHER",13,{"id":115,"slug":116,"hasResults":11,"nctId":117,"briefTitle":118,"officialTitle":119,"acronym":120,"eligibilityCriteria":121,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":4,"enrollmentInfo":122,"targetDuration":4,"studyType":22,"phases":124,"briefSummary":126,"conditions":127,"keywords":129,"overallStatus":39,"whyStopped":4,"lastUpdateSubmitDate":134,"lastUpdatePostDateStruct":135,"startDateStruct":137,"completionDateStruct":139,"leadSponsor":141,"locationsCount":78},"100629136","the-origin-fh-study-100629136","NCT07470723","The ORIGIN-FH Study","Opportunity to Reach Individuals With Genetic Dyslipidemia During Infancy and the Newborn Period to Find Familial Hypercholesterolemia","ORIGIN-FH","Inclusion Criteria - parent participant:\n\n* Individuals in the expectant partnership providing informed consent are at least 18 years of age.\n* Ability to understand and willingness to sign a written informed consent document.\n* Willingness to comply with all study procedures and be available for the duration of the study.\n* Expectant parent (currently pregnant with fetus ≥12 weeks gestation) where one or both partners have been diagnosed with possible or definite HoFH or HeFH based on Dutch Lipid Clinic Network (DLCN) or confirmed diagnosis from a healthcare provider. At minimum, at least one parent with HoFH or HeFH must be willing to consent to study participation. However, both parents will be invited to participate.\n* Parent(s) commit to using local laboratory services for infant blood samples, with mobile phlebotomy used as an alternative if available in their area.\n\nInclusion Criteria - newborn participant:\n\n* Newborn does not have any congenital abnormalities or medical conditions that may interfere with collection of dried blood spot (DBS) specimen and newborn does not require admission to neonatal intensive care unit.\n\nExclusion Criteria - parent and newborn participants:\n\n* Expectant partnership where neither partner meets diagnostic criteria for HeFH or HoFH.\n* Parent refuses consent for newborn's study participation.\n* Newborn has medical condition precluding DBS specimen collection, or a newborn's DBS specimen is not collected by 1 week of age.\n* Not suitable for study participation due to other reasons at the discretion of the investigators.",{"count":123,"type":21},70,[125],"NA","The goal of this clinical trial is to identify different types of Familial Hypercholesterolemia (FH) in infants and newborns. Participants will:\n\n* undergo a cheek swab for genetic testing (parents only)\n* have 5 blood samples collected\n\nParticipants can expect to be in the trial for 2 years.",[32,33,128],"Familial Hypercholesterolemia",[130,131,132,133],"cholesterol","newborn screening","pediatric","infant","2026-03-09",{"date":136,"type":43},"2026-03-13",{"date":138,"type":43},"2026-02-14",{"date":140,"type":21},"2029-02-14",{"name":142,"class":112},"University of Wisconsin, Madison"]