[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"familial-hypercholesterolemia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:familial-hypercholesterolemia":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,18,0,[8,40,64,102,130,153,182,211,238,269,290,319,342,368,392,419,445,474],{"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},"100641563","cascade-testing-in-identifying-at-risk-family-members-of-individuals-with-familial-hypercholesterolemia-fh-in-pcp-100641563",false,"NCT07653555","Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP","A Cluster Randomized Controlled Trial To Evaluate The Efficacy Of Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP","Inclusion Criteria:\n\nIndex Patients:\n\n* Age ≥ 18 years.\n* Confirmed FH diagnosis using Dutch Lipid Clinic Network criteria \\*or\\* genetic confirmation.\n* Identified through REP or Tapestry databases.\n* Able and willing to provide informed consent.\n* At least one eligible first- or second-degree relative.\n* Access to and active use of email (computer literacy requirement).\n\nRelatives:\n\n* First- or second-degree relative of an enrolled index patient.\n* Age ≥ 1 year (minors require parental consent + assent).\n* Willing to participate and able to complete electronic consent (guardian-assisted if minor).\n* Access to and active use of email (guardian).\n\nExclusion Criteria:\n\nIndex Patients:\n\n* No confirmed FH diagnosis.\n* Insufficient clinical follow-up (\\\u003C5 years).\n* No identifiable or contactable relatives.\n* Prior participation in structured cascade testing.\n* Severe cognitive impairment preventing informed consent.\n\nRelatives:\n\n* Prior participation in structured cascade testing.\n* Severe cognitive impairment preventing informed consent.","ALL","1 Year",{"count":19,"type":20},480,"ESTIMATED","INTERVENTIONAL",[23],"NA","The purpose of this study is to evaluate the effectiveness of two models of cascade testing in identifying at-risk family members of individuals diagnosed with familial hypercholesterolemia (FH).",[26],"Familial Hypercholesterolemia","NOT_YET_RECRUITING","2026-06-12",{"date":30,"type":31},"2026-06-17","ACTUAL",{"date":33,"type":20},"2026-06-20",{"date":35,"type":20},"2029-09-20",{"name":37,"class":38},"Mayo Clinic","OTHER",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":47,"enrollmentInfo":48,"targetDuration":17,"studyType":50,"phases":4,"briefSummary":51,"conditions":52,"keywords":4,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":54,"lastUpdatePostDateStruct":55,"startDateStruct":57,"completionDateStruct":59,"leadSponsor":61,"locationsCount":63},"100403182","child-parent-familial-hypercholesterolemia-screening-100403182","NCT04529967","Child-Parent Familial Hypercholesterolemia Screening","Child-Parent Screening of Familial Hypercholesterolemia in Children","Inclusion Criteria:\n\n* Receive routine child care\n* aged 1 - 3 years old ( date of investigate minus date of birth)\n\nExclusion Criteria:\n\n* It is up to the researcher to decide whether it is suitable to participate in this research","3 Years",{"count":49,"type":20},15000,"OBSERVATIONAL","Child-parent screening for familial hypercholesterolemia has been proposed to identify children and their parent who are carrier of mutations and with high risk for inherited premature coronary artery disease. The investigators assessed the efficacy and feasibility of such screening in primary care practice.\n\nkey scientific questions:\n\n1. The 95th and 99th percentile of finger blood TC in children of 2 years old.\n2. Mutations that contribute to high TC status ( serum TC \\>99th percentiles) compared with international FH48 panel for FH genetic screening.",[26],"RECRUITING","2026-05-13",{"date":56,"type":31},"2026-05-15",{"date":58,"type":31},"2025-04-01",{"date":60,"type":20},"2026-09-30",{"name":62,"class":38},"Children's Hospital of Fudan University",6,{"id":65,"slug":66,"hasResults":11,"nctId":67,"briefTitle":68,"officialTitle":68,"acronym":69,"eligibilityCriteria":70,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":71,"targetDuration":73,"studyType":50,"phases":4,"briefSummary":74,"conditions":75,"keywords":89,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":92,"lastUpdatePostDateStruct":93,"startDateStruct":95,"completionDateStruct":97,"leadSponsor":99,"locationsCount":101},"100558055","national-network-for-cardiovascular-genomics-advancing-cardiovascular-healthcare-for-hereditary-diseases-in-brazils-unified-health-system-through-a-multicenter-registry-100558055","NCT06546137","National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry","RENOMICA-Hcor","Inclusion Criteria:\n\n* Clinical diagnosis of a hereditary cardiovascular disease according to current clinical guidelines\n* Agree to receive genetic counseling\n* Sign informed consent form\n* Provide the information required in the case report form\n\nExclusion Criteria:\n\n* Signature absent from informed consent form\n* Inadequate buccal swab (sample may be collected twice)",{"count":72,"type":20},1211,"6 Months","The goal of this observational study is to develop a registry of Brazilian patients with hereditary cardiovascular diseases, combining clinical and genomic data. The main questions it aims to answer are:\n\nWhich genes are most commonly affected? What is the frequency of these genetic alterations in our population? Participants will be interviewed in routine medical care visits and their DNA will be sequenced.",[76,77,78,79,80,26,81,82,83,84,85,86,87,88],"Cardiomyopathy, Hypertrophic","Cardiomyopathy, Dilated","Cardiomyopathy Restrictive","Arrhythmogenic Right Ventricular Dysplasia","Non-Compaction Cardiomyopathy","Marfan Syndrome","Ehlers-Danlos Syndrome, Vascular Type","Loeys-Dietz Syndrome","Long QT Syndrome","Short Qt Syndrome","Brugada Syndrome","Catecholaminergic Polymorphic Ventricular Tachycardia","Sudden Cardiac Death",[90,91],"hereditary cardiovascular diseases","whole genome sequencing","2026-05-04",{"date":94,"type":31},"2026-05-08",{"date":96,"type":31},"2025-04-30",{"date":98,"type":20},"2026-08-31",{"name":100,"class":38},"Hospital do Coracao",27,{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":106,"acronym":4,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":109,"enrollmentInfo":110,"targetDuration":4,"studyType":21,"phases":112,"briefSummary":114,"conditions":115,"keywords":116,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":121,"lastUpdatePostDateStruct":122,"startDateStruct":124,"completionDateStruct":126,"leadSponsor":128,"locationsCount":39},"100434777","phase-2-2-hydroxybenzylamine-2-hoba-to-reduce-hdl-modification-and-improve-hdl-function-in-familial-hypercholesterolemia-fh-100434777","NCT04941599","2-Hydroxybenzylamine (2-HOBA) to Reduce HDL Modification and Improve HDL Function in Familial Hypercholesterolemia (FH)","Inclusion Criteria:\n\n* Individuals with heterozygous Familial Hypercholesterolemia.\n\nExclusion Criteria:\n\n* Myocardial infarction or stroke within the last 6 months\n* unstable angina, symptoms of angina within the last 3 months\n* NYHA class III or IV heart failure or LVEF \\\u003C 30%\n* poorly controlled hypertension: SBP \\> 180 mm Hg or DBP \\> 110 mm Hg,\n* pregnancy,\n* evidence of a previous acute coronary syndrome,\n* current smokers,\n* individuals with Type 2 Diabetes Mellitus, obesity (BMI \\> 30),\n* hypertriglyceridemia (fasting TG \\> 250 mg\u002Fdl),\n* renal insufficiency (Cr \\> 1.8),\n* hepatic disease (aspartate aminotransferase(AST) or alanine aminotransferase (ALT) \\> 2x ULN),\n* hypothyroidism,\n* nephrotic syndrome,\n* rheumatoid arthritis,\n* systemic lupus erythematosus,\n* AIDS or HIV\n* history of malignancy of any organ in last 5 years.","18 Years","69 Years",{"count":111,"type":20},72,[113],"PHASE2","The Investigators will test the hypothesis that 2-HOBA will reduce modification of HDL and LDL and improve HDL function in humans with heterozygous FH. The Investigators plan to first study subjects with Familial Hypercholesterolemia (FH), treating them with 750 mg of 2-HOBA or placebo every 8 hours for 6 weeks.",[26],[26,117,118,119,120],"HDL","LDL","2-HOBA","HDL Function","2026-05-01",{"date":123,"type":31},"2026-05-06",{"date":125,"type":31},"2024-02-14",{"date":127,"type":20},"2026-12-31",{"name":129,"class":38},"Vanderbilt University Medical Center",{"id":131,"slug":132,"hasResults":11,"nctId":133,"briefTitle":134,"officialTitle":135,"acronym":4,"eligibilityCriteria":136,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":4,"enrollmentInfo":137,"targetDuration":4,"studyType":21,"phases":139,"briefSummary":140,"conditions":141,"keywords":4,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":144,"lastUpdatePostDateStruct":145,"startDateStruct":147,"completionDateStruct":149,"leadSponsor":151,"locationsCount":39},"100466041","comparing-direct-vs-indirect-methods-for-cascade-screening-100466041","NCT05348564","Comparing Direct vs Indirect Methods for Cascade Screening","Comparing Direct and Indirect Methods for Cascade Screening in Familial Hypercholesterolemia (FH) and Long QT Syndrome (LQTS)","Proband Inclusion Criteria:\n\n* KCNQ1 Thr224Met or APOB R3527Q carrier\n* 18 years or older\n\nProband Exclusion Criteria:\n\n* None\n\nFamily Inclusion Criteria:\n\n* 1st degree relative of a KCNQ1 Thr224Met or APOB Arg3527Gln carrier\n\nFamily Exclusion Criteria:\n\n* None",{"count":138,"type":20},200,[23],"An important aspect of successful genomic medicine implementation is developing effective approaches for screening at-risk family members after probands are identified, also known as cascade screening. Most cascade screening studies conducted to date have been conducted outside the US, and very few studies have used a rigorous approach involving a comparator group or randomized controlled design. A major question in the field is how to most effectively implement cascade screening, given commonly cited communication barriers, while respecting privacy among probands and family members. This study will conduct a randomized controlled trial to assess direct contact of relatives by study team members vs indirect, or proband-initiated, contact. We will assess efficacy of the cascade screening intervention, patient-centered outcomes regarding mental, physical, and psychosocial outcomes in probands and family members, and implementation evaluation outcomes.\n\nIndividuals who are known to carry the KCNQ1 Met224Thr or APOB Arg3527Gln variant will be eligible to participate. After providing consent and being deemed eligible, individuals will be randomized in a 1:1 manner into the direct or indirect contact of family members arm of the study. The randomization will be stratified by variant to ensure equal representation of each variant in the study arms. Individuals in the indirect arm will be instructed to contact their first-degree family members about the opportunity to be screened. They will be provided with a disease-specific pamphlet and a family letter explaining the cascade screening. In the direct arm, probands will be advised that the study staff will be contacting their family members. They will be instructed to also contact their family members prior to the study team contacting them. Approximately two weeks after this meeting with the proband, the study staff will mail letters to eligible first-degree family members of the probands. If we do not hear back from individual family members, we will follow-up with another letter, telephone call, or home visit. The information contained in the letters will be the same information for both the direct and indirect arms of the study. All interested family members will receive pre-test counseling and free, in-home, saliva-based genetic testing, and post-test counseling.",[84,26,142,143],"Ethics","Genetic Testing","2026-04-10",{"date":146,"type":31},"2026-04-14",{"date":148,"type":31},"2023-05-15",{"date":150,"type":20},"2027-10",{"name":152,"class":38},"University of Maryland, Baltimore",{"id":154,"slug":155,"hasResults":11,"nctId":156,"briefTitle":157,"officialTitle":158,"acronym":159,"eligibilityCriteria":160,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":4,"enrollmentInfo":161,"targetDuration":4,"studyType":21,"phases":163,"briefSummary":164,"conditions":165,"keywords":168,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":173,"lastUpdatePostDateStruct":174,"startDateStruct":176,"completionDateStruct":178,"leadSponsor":180,"locationsCount":39},"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":162,"type":20},70,[23],"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.",[166,167,26],"Heterozygous Familial Hypercholesterolemia (HeFH)","Homozygous Familial Hypercholesterolemia (HoFH)",[169,170,171,172],"cholesterol","newborn screening","pediatric","infant","2026-03-09",{"date":175,"type":31},"2026-03-13",{"date":177,"type":31},"2026-02-14",{"date":179,"type":20},"2029-02-14",{"name":181,"class":38},"University of Wisconsin, Madison",{"id":183,"slug":184,"hasResults":11,"nctId":185,"briefTitle":186,"officialTitle":187,"acronym":188,"eligibilityCriteria":189,"healthyVolunteers":190,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":191,"targetDuration":193,"studyType":50,"phases":4,"briefSummary":194,"conditions":195,"keywords":196,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":202,"lastUpdatePostDateStruct":203,"startDateStruct":205,"completionDateStruct":207,"leadSponsor":209,"locationsCount":39},"100383441","eas-familial-hypercholesterolaemia-studies-collaboration-100383441","NCT04272697","EAS Familial Hypercholesterolaemia Studies Collaboration","European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration","FHSC","Inclusion Criteria:\n\n* Clinical and\u002For genetic diagnosis of heterozygous or homozygous familial hypercholesterolaemia (FH)\n* Relatives of index cases without a diagnosis of FH where screening (cascade or other) is carried out.\n* The data have been de-identified prior to transferring to the EAS FHSC Global Registry.\n\nExclusion Criteria:\n\n* Secondary causes of dyslipidaemia (e.g. untreated hypothyroidism, cholestasis, nephrotic syndrome).\n* Where data collection does not conform to the local or country wide standards for anonymised data.",true,{"count":192,"type":20},75000,"5 Years","Familial hypercholesterolaemia (FH) is a common genetic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If untreated, lifelong exposure to elevated LDL-C results in a substantially increased risk of (premature) cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, reports shows that FH is under-diagnosed and under-treated.\n\nEfforts to tackle the global burden of FH have been hindered by a lack of global cohesion, with data held in disparate formats across many sites\u002Fcountries, resulting in fragmentation and lack of harmonized data from different cohorts. A lack of structure and the availability of limited resources have made it hitherto difficult to integrate these cohorts thus far.\n\nThe EAS FHSC is a global initiative of stakeholders involved in the care of people living with FH that seeks to empower the medical and global community to seek changes in their respective countries or organisations to promote early diagnosis and effective treatment of FH. The FHSC Global Registry is a comprehensive, robust database of compiled secondary, unidentifiable, anonymised data on the burden of FH worldwide. These secondary data are sourced from multiple active national\u002Fregional\u002Flocal registries across nearly 60 countries thus far, independent and external to the FHSC, and submitted to the FHSC Registry where data is standardised, pooled, harmonised and integrated into a single global database.\n\nThe FHSC Global Registry currently contains over 60,000 cases and remains active and will continue to receive secondary data over the years ahead. This multi-national pooled dataset facilitates clinical observational (non-interventional) studies to address multiple scientific inquires. This hypothesis-free epidemiology research will report on the characteristics of FH worldwide more accurately and inform the development of clinical guidelines and healthcare policy.",[26],[197,198,199,200,201],"Familial hypercholesterolaemia","Primary dyslipidaemia","Cardiovascular disease prevention","LDL cholesterol","Genetic lipids disorders","2026-03-03",{"date":204,"type":31},"2026-03-04",{"date":206,"type":31},"2015-03-22",{"date":208,"type":20},"2030-12",{"name":210,"class":38},"Imperial College London",{"id":212,"slug":213,"hasResults":11,"nctId":214,"briefTitle":215,"officialTitle":216,"acronym":217,"eligibilityCriteria":218,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":4,"enrollmentInfo":219,"targetDuration":4,"studyType":21,"phases":221,"briefSummary":222,"conditions":223,"keywords":224,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":228,"lastUpdatePostDateStruct":229,"startDateStruct":231,"completionDateStruct":233,"leadSponsor":235,"locationsCount":237},"100486449","familial-hypercholesterolemia-interpretive-comment---nudging-to-detection-100486449","NCT05614219","Familial Hypercholesterolemia Interpretive Comment - Nudging to Detection.","Can Biochemistry Interpretive Comments on Elevated Cholesterol Levels, Increase Referrals to Lipid Clinics and Detection Rate of Familial Hypercholesterolemia? A Step Wedge Cluster Randomized Controlled Trial.","FIND","Inclusion Criteria:\n\n* All referred patients to the lipid clinics of Southern Denmark\n* LDL-C ≥ 4 mmol\u002FL in persons under the age of 40.\n* LDL-C ≥ 5 mmol\u002FL in persons ≥ 40 years.\n\nExclusion Criteria:\n\nPregnancy and Secondary dyslipidemia\n\n* Dysregulated diabetes. Hba1C \\\u003C 48\n* Dysregulated hypothyreosis. Elevated TSH.\n* Kombined hyperlipidiemia TG \\> 4 mmol\u002FL\n* Nefrotic syndrome: proteinuria \\> 3 g\u002FL and s-albumin \\\u003C 30 g\u002Fl\n* Cholestasis (alcalic fosfatase \\> 105 U\u002FL and GGT \\> 55 U\u002FL) 14 days prior to LDL-C measuring\n* Pharmacological induced hyperlipidimia",{"count":220,"type":20},2000,[23],"Familial hypercholesterolemia is the most common inherited disease of the lipid metabolism, however it remains underdiagnosed. Only 15 % of 30.000 possible patients have been found in Denmark. This quality assessing project will through a step wedge cluster randomized controlled trial evaluate establishment of a biochemistry interpretive comment on elevated LDL-C levels. The study will test if the comment results in an increase in referred patients to the lipid clinics of Southern Denmark as the primary endpoint, and as the secondary endpoint in more patients diagnosed with familial hypercholesterolemia. The project will run in totally 52 weeks and will in steps initiate the comment from the different laboratories in the Region of Southern Denmark.",[26],[26,225,226,227],"Biochemistry interpretive comment","Low-density lipoprotein cholesterol levels","Screening","2026-02-18",{"date":230,"type":31},"2026-02-20",{"date":232,"type":31},"2023-12-01",{"date":234,"type":20},"2027-05-01",{"name":236,"class":38},"Odense University Hospital",2,{"id":239,"slug":240,"hasResults":11,"nctId":241,"briefTitle":242,"officialTitle":243,"acronym":244,"eligibilityCriteria":245,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":246,"enrollmentInfo":247,"targetDuration":4,"studyType":21,"phases":249,"briefSummary":250,"conditions":251,"keywords":256,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":260,"lastUpdatePostDateStruct":261,"startDateStruct":263,"completionDateStruct":265,"leadSponsor":267,"locationsCount":237},"100549868","atlantic-lipid-lowering-treatment-optimization-program-100549868","NCT06439654","Atlantic Lipid Lowering Treatment Optimization Program","Atlantic Lipid Lowering Treatment Optimization Program (ALLTOP): A Comprehensive Approach to the Treatment of Familial Hypercholesterolemia and Complex Dyslipidemias","ALLTOP","Inclusion Criteria:\n\n* LDL-C ≥160 mg\u002FdL\n* Untreated LDL-C ≥190 with family history of CAD\n* Prior MI and currently without optimized lipid-lowering therapy\n* Family history of CAD in first degree relative\n* Personal history of CAD\n* Untreated triglycerides \\>500\n* Elevated Lp(a) and\u002For high calcium scores\n* Consenting individuals\n\nExclusion Criteria:\n\n* Individuals who are pregnant\n* Individuals who are incarcerated\n* Individuals with a terminal illness\n* Individuals who do not consent","120 Years",{"count":248,"type":20},250,[23],"Hypercholesterolemia is recognized as the major driver for cardiovascular morbidity and mortality. To help address this in our community, Atlantic Medical Group (AMG) formed a lipid workgroup chaired by Robert D. Fishberg, MD, and Jeffrey N. Feldman, MD. The overarching goal of the lipid workgroup is to enhance the treatment of lipid disorders in those patients with abnormal lipid levels by improving access to resources at the primary care practice level and specialty level. We aim to develop a model for primary and secondary prevention that integrates guidelines for treatment at the practice level. Our primary objective is to identify high-risk patients by utilizing the electronic health record and partnering with patients' primary care providers to provide comprehensive medical management.",[26,252,253,254,255],"Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia","Apolipoprotein B 100, Familial Defective","High Density Lipoprotein Deficiency","Low-Density-Lipoid-Type Hyperlipoproteinemia",[257,258,259],"LDL-C","FH","complex dyslipidemia","2025-07-30",{"date":262,"type":31},"2025-08-03",{"date":264,"type":31},"2024-07-01",{"date":266,"type":20},"2027-12-31",{"name":268,"class":38},"Atlantic Health System",{"id":270,"slug":271,"hasResults":11,"nctId":272,"briefTitle":273,"officialTitle":273,"acronym":4,"eligibilityCriteria":274,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":275,"enrollmentInfo":276,"targetDuration":4,"studyType":21,"phases":278,"briefSummary":280,"conditions":281,"keywords":4,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":282,"lastUpdatePostDateStruct":283,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":39},"100551278","early-phase-1-clinical-exploration-trial-of-yolt-101-in-the-treatment-of-familial-hypercholesterolemia-fh-100551278","NCT06458010","Clinical Exploration Trial of YOLT-101 in the Treatment of Familial Hypercholesterolemia (FH)","Inclusion Criteria:\n\n1. Male or female, aged 18 to 75 years inclusive, at the time of signing informed consent.\n2. Meets the diagnostic criteria for familial hypercholesterolemia.\n3. At screening, there is a mutation in the PCSK9 and\u002For ApoB and\u002For LDLR gene.\n4. At screening, weight is ≥40kg, and Body Mass Index (BMI) is \\>18kg\u002Fm\\^2.\n5. At screening, subjects must meet the following laboratory criteria:\n\n   5.1 Hematology: Absolute Neutrophil Count (ANC) ≥1.5×10\\^9\u002FL, Platelet (PLT) ≥100×10\\^9\u002FL, Hemoglobin (HGB) ≥90 g\u002FdL; 5.2 Liver Function: Aspartate Aminotransferase (AST), Alanine Aminotransferase (ALT), Alkaline Phosphatase (ALP) \\\u003C2.0×Upper Limit of Normal (ULN), Total Bilirubin (TBIL) ≤1.5×ULN; 5.3 Renal Function: Serum Creatinine (Cr) ≤1.5×ULN, and Glomerular Filtration Rate (GFR) \\>60mL\u002Fmin\\*1.73m\\^2; 5.4 Coagulation Function: Prothrombin Time (PT), Activated Partial Thromboplastin Time (APTT), International Normalized Ratio (INR) \\\u003C1.5×ULN; 5.5 Fasting Triglycerides \\\u003C5.6mmol\u002FL.\n6. On moderate intensity or higher statin therapy (statin treatment stable for 4 weeks) with LDL-C ≥2.6mmol\u002FL; for those with evidence of atherosclerosis, LDL-C ≥1.8mmol\u002FL. (Evidence of atherosclerosis includes: 1. History of myocardial infarction, angina, coronary artery revascularization, non-embolic ischemic stroke or transient ischemic attack, intermittent claudication; 2. Presence of advanced subclinical atherosclerosis: Coronary artery calcium score \\> 100 Agatston units, or above the 75th percentile for age and sex; or coronary artery CT angiography showing stenosis \\> 50%, or multiple vessels with non-obstructive plaques.)\n7. Subjects and their partners must use effective contraceptive measures during the study period and for at least 6 months after the end of the main study.\n8. Voluntarily sign informed consent.\n\nExclusion Criteria:\n\n1. Within at least 14 days (or 5 half-lives of the drug, whichever is longer, for small molecule\u002Fsmall nucleic acid drugs) or 2 months (for biological agents such as PCSK9 inhibitors) or 1 year (for PCSK9 small nucleic acid drugs) before accepting the study medication, those who have used prescription drugs that affect lipid metabolism other than statins, or those who have used any non-prescription drugs affecting lipid metabolism within at least 14 days before accepting the study medication (such as traditional Chinese medicine\u002Fpatent Chinese medicine, vitamins, fish oil (\\>1000mg\u002Fday), drugs or health products containing red yeast rice, etc.; except for those who have been on stable non-cyclic hormone replacement therapy for more than 8 weeks and agree not to change the treatment plan for at least 28 days after receiving the trial medication); those who are currently participating in other clinical studies of lipid-lowering drugs and have used study medication.\n2. Patients with poorly controlled hypertension (systolic blood pressure (SBP) ≥160mmHg and\u002For diastolic blood pressure (DBP) ≥100mmHg).\n3. Patients with poorly controlled diabetes (glycated hemoglobin \\>8.5%).\n4. Those allergic to drugs or components of LNP-mRNA vaccines contained in lipid nanoparticles (LNP), or those who have experienced adverse reactions due to LNP-based drug treatment, such as: 4.1 After receiving LNP-based drug treatment, ALT or AST \\> 3.0×ULN; 4.2 After receiving LNP-based drug treatment, INR \\> 1.5 or APTT\u002Fd-dimer \\> 1.5×ULN; 4.3 Any infusion reaction that requires clinical intervention or slows down or stops the infusion of LNP-based drug treatment; 4.4 Any other adverse reactions deemed related to LNP-based drug treatment by the investigator.\n5. Within 3 months before screening, those who smoke more than 5 cigarettes per day or consume an equivalent amount of nicotine or nicotine replacement products.\n6. Within 3 months before screening, those with a history of alcohol abuse \\[consuming more than 14 units of alcohol per week (1 unit ≈ 360mL beer or 45mL of liquor with 40% alcohol or 150mL of wine)\\]; or those who test positive for alcohol breath research at screening or admission.\n7. At screening, those with New York Heart Association (NYHA) defined class III-IV heart failure, or left ventricular ejection fraction \\\u003C50%, or prolonged QTc interval (females \\>470ms, males \\>450ms).\n8. Within 3 months before screening, those with poorly controlled severe arrhythmias, such as recurrent and highly symptomatic ventricular tachycardia, rapid ventricular response atrial fibrillation, or supraventricular tachycardia that is not well controlled with medication.\n9. Within 3 months before screening, those with myocardial infarction, unstable angina, percutaneous coronary intervention, coronary artery bypass grafting, severe deep vein thrombosis, or pulmonary embolism; those who have had a cerebrovascular accident within 6 months before screening or plan to undergo cardiac surgery or revascularization during the main study period.\n10. Those with diseases that significantly affect lipid levels and are uncontrollable, such as nephrotic syndrome, severe liver disease, Cushing's syndrome, thyroid dysfunction, etc. (those with hypothyroidism before screening who have been on stable thyroid replacement therapy for ≥28 days, with normal TSH testing, and agree to maintain the thyroid replacement drug dose unchanged during the study may be considered for inclusion).\n11. Those who have donated more than 500 mL of blood within 3 months before screening.\n12. Those who cannot or are unwilling to accept the required medication treatment plan before treatment.\n13. Those who have undergone antithrombotic treatment (such as warfarin, dabigatran, apixaban) within 14 days before enrollment.\n14. Those with a history of easy bleeding or coagulation disorders (such as liver cirrhosis, malignant hematological diseases, antiphospholipid antibody syndrome).\n15. Those with an expected survival of less than 2 years.\n16. Those known or suspected to have systemic viral, parasitic, or fungal infections, or those expected to receive antibiotic treatment within 14 days after screening.\n17. Those who test positive for hepatitis B surface antigen (HBsAg) or hepatitis C virus antibody (HCV Ab) or human immunodeficiency virus (HIV) antibody at screening.\n18. Those who have undergone liver, heart, or other solid organ transplantation or bone marrow transplantation within 1 year before screening or plan to undergo transplantation during the trial period.\n19. Those with a history of malignant tumors within 5 years before screening (except for cured basal cell carcinoma of the skin, squamous cell carcinoma of the skin, cervical carcinoma in situ, low-grade prostatic intraepithelial neoplasia, and cured basal cell carcinoma of the thyroid).\n20. Those with a history of drug abuse within 3 years before screening.\n21. Women who are pregnant or breastfeeding.\n22. Those with other hematopoietic system, digestive system, or central nervous system (including cerebrovascular diseases, degenerative diseases) diseases that the investigator believes will interfere with evaluation or limit participation in the trial.\n23. Those with severe mental illnesses that the investigator believes cannot be adequately controlled by drug treatment.\n24. Those unwilling to comply with the research procedures or unwilling to fully cooperate.\n25. Other situations deemed by the investigator as not suitable for participation in clinical trials.","75 Years",{"count":277,"type":20},20,[279],"EARLY_PHASE1","This study is a single arm, open, single dose escalation trial aimed at evaluating the safety and tolerability of YOLT-101 administration in patients with familial hypercholesterolemia; Determination of YOLT-101 OBD; Preliminary evaluation of the effects of single administration of YOLT-101 on plasma lipid and lipoprotein levels.\n\nNote: OBD is defined as the dosage at which plasma PCSK9 protein levels decrease between 60% and 95% from baseline on the 28th day after YOLT-101 administration. OBD ≤ Maximum Tolerable Dose (MTD).\n\nIn this study, the longest screening period for the main study was 42 days, the treatment day was Day 1 (D1), and the safe follow-up period was up to 52 weeks after medication. In the main study, when OBD occurs, additional subjects will be added to the dose group (specific number of cases will be negotiated between the cooperating organization and investigators) for further validation. In addition, subjects in the first dose group can voluntarily receive a second drug administration of OBD level.\n\nAfter the completion of the main study, participants will undergo long-term follow-up. According to the Technical Guidelines for Long term Follow up Clinical Research of Gene Therapy Products (Trial) released by CDE, a long-term follow-up until 15 years after the medicine administration is required .",[26],"2025-04-27",{"date":96,"type":31},{"date":285,"type":31},"2024-05-24",{"date":287,"type":20},"2026-01-25",{"name":289,"class":38},"RenJi Hospital",{"id":291,"slug":292,"hasResults":11,"nctId":293,"briefTitle":294,"officialTitle":295,"acronym":296,"eligibilityCriteria":297,"healthyVolunteers":11,"sex":16,"minAge":298,"maxAge":108,"enrollmentInfo":299,"targetDuration":4,"studyType":50,"phases":4,"briefSummary":301,"conditions":302,"keywords":305,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":310,"lastUpdatePostDateStruct":311,"startDateStruct":313,"completionDateStruct":315,"leadSponsor":317,"locationsCount":237},"100390972","early-detection-of-familial-hypercholesterolemia-in-children-100390972","NCT04370899","Early Detection of Familial Hypercholesterolemia in Children","Early Detection of Familial Hypercholesterolemia in Children in Tarragona Province","DECOPIN","Inclusion Criteria:\n\n* Children between 2 and 18 years of age.\n* LDL-C level above 135 mg\u002FdL\n* Previously, the pediatrician will have discarded secondary causes (hypercholesterolaemia such as hypothyroidism, nephrotic syndrome, diabetes, renal insufficiency).\n\nAfter confirmation that one of the parents has a genetic mutation (Lipoxip\u002FLiponext) or clinical diagnosis (DLCN ≥ 8), the child will be studied. The progenitor with hypercholesterolemia will be considered as an index case, in this way we will demonstrate the vertical transmission of the genetic disease.\n\nExclusion Criteria:\n\n* The child population under 2 and over the age of 18 and children.\n* Children with high cholesterol but by secondary causes.","2 Years",{"count":300,"type":20},400,"Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second degree affected relatives.",[26,303,304],"Familial Hypercholesterolemia - Heterozygous","Familial Hypercholesterolemia - Homozygous",[26,306,307,308,309,200],"Childhood","cardiovascular risk","lifestyle assessment","genetic disorder","2025-04-17",{"date":312,"type":31},"2025-04-18",{"date":314,"type":31},"2013-03-14",{"date":316,"type":20},"2030-07-01",{"name":318,"class":38},"Institut Investigacio Sanitaria Pere Virgili",{"id":320,"slug":321,"hasResults":11,"nctId":322,"briefTitle":323,"officialTitle":324,"acronym":325,"eligibilityCriteria":326,"healthyVolunteers":11,"sex":16,"minAge":327,"maxAge":4,"enrollmentInfo":328,"targetDuration":17,"studyType":50,"phases":4,"briefSummary":330,"conditions":331,"keywords":332,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":333,"lastUpdatePostDateStruct":334,"startDateStruct":336,"completionDateStruct":338,"leadSponsor":340,"locationsCount":39},"100560014","pmmhri---familial-hypercholesterolemia-registry-100560014","NCT06571630","PMMHRI - Familial Hypercholesterolemia Registry","Polish Mother's Memorial Hospital Research Institute - Familial Hypercholesterolemia Registry","FH-Registry","Inclusion Criteria:\n\n* FH diagnosis\n\nExclusion Criteria:\n\n\\-","1 Day",{"count":329,"type":20},300,"The registry is maintained at the Regional Centre for Rare Diseases, established in 2016, within Polish Mother's Memorial Hospital Research Institute. This facility diagnoses and treats over 80 distinct rare diseases in patients from across the country, including those with phenotypically or genetically confirmed familial hypercholesterolemia (FH).",[26],[26],"2024-08-23",{"date":335,"type":31},"2024-08-26",{"date":337,"type":31},"2018-01-01",{"date":339,"type":20},"2025-12-31",{"name":341,"class":38},"Polish Mother Memorial Hospital Research Institute",{"id":343,"slug":344,"hasResults":11,"nctId":345,"briefTitle":346,"officialTitle":347,"acronym":4,"eligibilityCriteria":348,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":349,"enrollmentInfo":350,"targetDuration":4,"studyType":21,"phases":352,"briefSummary":353,"conditions":354,"keywords":356,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":359,"lastUpdatePostDateStruct":360,"startDateStruct":362,"completionDateStruct":364,"leadSponsor":366,"locationsCount":4},"100538660","early-phase-1-safety-and-efficacy-study-of-nggt006-in-refractory-hypercholesterolemia-patients-100538660","NCT06293729","Safety and Efficacy Study of NGGT006 in Refractory Hypercholesterolemia Patients","A Clinical Study for the Safety and Efficacy of Intravenous Infusion of NGGT006 in Treatment of Refractory Hypercholesterolemia","Inclusion Criteria:\n\n1. 18 ≤ age ≤ 55 years old;\n2. A patient with a clear diagnosis of refractory hypercholesterolemia and confirmed by genetic testing to be familial hypercholesterolemia;\n3. AAV binding antibody titer ≤1:80 and AAV neutralizing antibody ≤1:5;\n4. 18≤BMI (body mass index)≤35;\n5. During the screening period, the subjects have received stable maximum tolerated dose of lipid-lowering drug treatment, but LDL-C was still ≥70mg\u002FdL with clinical atherosclerotic cardiovascular disease; or LDL-C level was ≥ 100 mg\u002FdL without clinical atherosclerotic cardiovascular disease: the highest tolerated dose refers to (the following must be met at the same time):\n\n   ① Moderate to high doses of statins for ≥4 weeks, whether used alone or in combination with other lipid-lowering drugs; exceptions: subjects cannot tolerate statins; or subjects cannot receive statin treatment due to other reasons, such as low BMI, etc.;\n\n   ② Ezetimibe ≥ 4 weeks;\n\n   ③ Alirocumab 150mg Q2W or 300mg Q4W; evolocumab 140mg Q2W or 420mg Q4W; ≥8 weeks; And during the clinical trial process, any adjustment involving the type and dosage of lipid-lowering drugs must be approved by the researcher;\n6. Stable healthy diet for ≥12 weeks, and can adhere to a healthy diet throughout the entire clinical trial;\n7. Voluntarily sign the informed consent form and be willing to comply with the trial visit plan;\n8. Willing to maintain a similar amount and intensity of exercise during the study period as during the baseline period;\n9. Maintain good living habits, have no history of alcoholism or alcohol dependence (ICD-10 diagnosis is F10)\n10. No new or recurring cardiovascular events (myocardial infarction, cerebral infarction, etc.) within half a year;\n11. No stent implantation plan within three months;\n12. Female subjects have not had sexual intercourse for 14 days before administration, and their blood tests indicate that they are not pregnant;\n13. Subjects of childbearing age agree to use highly effective contraceptive measures for at least 365 days from the time of NGGT006 administration.\n\nExclusion Criteria:\n\n1. Secondary hyperlipidemia;\n2. Use of other drugs or nutritional products that may affect blood lipids (such as fibrates) within 6 weeks;\n3. Have received low-density lipoprotein apheresis (LDL apheresis) within the past 2 months;\n4. Large weight fluctuations (≥5kg) in the past 2 months;\n5. Positive for hepatitis B surface antigen, hepatitis C, human immunodeficiency virus (HIV)，syphilis test or other infections (such as Epstein-Barr virus, Mycoplasma pneumoniae, tuberculosis virus, HPV, Chlamydia pneumoniae, respiratory syncytial virus, Adenovirus and coxsackievirus group B, etc.);\n6. Clinically significant abnormalities in liver function test: alanine aminotransferase (ALT) \\>2 × upper limit of normal (ULN) and\u002For aspartate aminotransferase (AST) \\>2 × ULN;\n7. RR at the baseline \\>160\u002F100mmHg (one repeated measurement is allowed);\n8. Uncontrollable myocardial infarction or heart failure, and those planning surgery within one year; or new acute coronary syndrome in the past six months;\n9. Diabetes diagnosed within 3 months or with poor control (HbA1c \\>9%);\n10. Abnormal thyroid function, or those using thyroid hormone replacement therapy but poorly controlled (TSH within the normal range for \\\u003C12 weeks);\n11. Acute or chronic renal insufficiency;\n12. Hemoglobin (Hb) \\\u003C 120g\u002FL (male), Hb \\\u003C 110 (female);\n13. Abnormal platelet counts or morphology;\n14. History or laboratory tests suggestive of thrombosis;\n15. Had contraindications to glucocorticoid (e.g., epilepsy, severe schizophrenia, active peptic ulcer)；\n16. Used systemic glucocorticoid treatment within 6 weeks before enrollment;\n17. Life expectancy less than 1 year;\n18. Suffering from malignant tumors such as liver cancer; liver fibrosis;\n19. Previous gene therapy treatment;\n20. Hypersensitivity to AAV preparations (for example trehalose) or cortisone or immunosuppressants (sirolimus, rituximab, tacrolimus);\n21. Suffering from immunodeficiency disease\n22. Participation in any other clinical trial within 3 months;\n23. Breastfeeding females;\n24. Any other condition that may not be appropriate for the study in the opinion of the Investigator.","55 Years",{"count":351,"type":20},9,[279],"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 patients with refractory Hypercholesterolemia diagnosed by gene testing for familial hypercholesterolemia. NGGT006 uses adeno-associated virus (AAV) as a vector, carrying a liver specific promoter and 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).",[355,26],"Refractory Hypercholesterolemia",[357,358],"Gene therapy","Low-density lipoprotein cholesterol","2024-04-16",{"date":361,"type":31},"2024-04-17",{"date":363,"type":20},"2024-06-01",{"date":365,"type":20},"2029-03-01",{"name":367,"class":38},"Suzhou Municipal Hospital",{"id":369,"slug":370,"hasResults":11,"nctId":371,"briefTitle":372,"officialTitle":372,"acronym":373,"eligibilityCriteria":374,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":375,"targetDuration":377,"studyType":50,"phases":4,"briefSummary":378,"conditions":379,"keywords":381,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":384,"lastUpdatePostDateStruct":385,"startDateStruct":387,"completionDateStruct":389,"leadSponsor":390,"locationsCount":39},"100543945","lipid-transport-disorder-italian-genetic-record-lipigen-100543945","NCT06362473","Lipid Transport Disorder Italian Genetic Record (LIPIGEN)","LIPIGEN","Inclusion Criteria:\n\n* Molecular or clinical diagnosis of genetic dyslipidemia\n* Informed consent signed\n\nExclusion Criteria:\n\n* None",{"count":376,"type":20},10000,"10 Years","LIPIGEN is an observational study involving Italian physicians and researchers in the field of diseases related to blood lipid levels. This study aims to improve the diagnosis and treatment of people with familial dyslipidaemias, including very common conditions such as familial hypercholesterolaemia (FH) and less common ones such as familial chylomicronidaemic syndrome (FCS).\n\nWhat does the study do?\n\nIt collects information on Italian patients with Familial Hypercholesterolaemia (FH), following them in their normal clinical examination without adding extra procedures.\n\nIt uses the data collected to further our understanding of diseases such as familial hypercholesterolaemia, examining how it is diagnosed clinically and by genetic testing, and evaluating the effectiveness of different treatments.\n\nIt seeks to identify the genetic mutations that cause familial hypercholesterolaemia and other dyslipidaemias, helping to choose the most effective treatments.\n\nIt evaluates the impact of long-term treatments and patient adherence to medication, as well as monitoring the incidence of cardiovascular events and other important outcomes.\n\nWho can participate?\n\nThe study is aimed at people of all ages, from children to adults, with familial hypercholesterolaemia or other genetic dyslipidaemia.\n\nMore than 50 centres throughout Italy are involved, making the study accessible to many.\n\nWhat does participation entail?\n\nParticipants will continue with their normal clinical practice.\n\nData such as family history, personal clinical findings and genetic information will be collected, without additional procedures.\n\nFor some, further evaluations, such as ultrasounds, may be required to better study their condition.\n\nThe LIPIGEN study not only helps to better understand diseases related to high cholesterol but also aims to improve patients\\' lives through more precise diagnosis and personalised treatments.",[26,380],"Genetic Disorder",[373,382,383],"Familial Hypercholesterelomia","Genetic Dyslipidemia","2024-04-08",{"date":386,"type":31},"2024-04-12",{"date":388,"type":31},"2015-08-04",{"date":60,"type":20},{"name":391,"class":38},"Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)",{"id":393,"slug":394,"hasResults":11,"nctId":395,"briefTitle":396,"officialTitle":396,"acronym":397,"eligibilityCriteria":398,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":399,"targetDuration":401,"studyType":50,"phases":4,"briefSummary":402,"conditions":403,"keywords":405,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":410,"lastUpdatePostDateStruct":411,"startDateStruct":413,"completionDateStruct":415,"leadSponsor":417,"locationsCount":39},"100209903","familial-hypercholesterolemia-canada--hypercholesterolemie-familiale-canada-100209903","NCT02009345","Familial Hypercholesterolemia Canada \u002F Hypercholesterolemie Familiale Canada","FHCanada","Inclusion Criteria:\n\n* Clinical diagnostic criteria for FH, which are:\n\n  * Family and\u002For personal history of high cholesterol\n  * Family and\u002For personal history of heart disease\n  * Abnormal growth on tendons, accumulation of fatty material in the eye\n* Family history of FH\n* Severe disorder of cholesterol and other lipids in the blood\n\nExclusion Criteria:\n\nNo exclusion criterion",{"count":400,"type":20},6000,"15 Years","Familial hypercholesterolemia (FH) is the most frequent genetic lipoprotein disorder associated with premature CAD. In Canada, the burden of disease is estimated to be approximately 83,500 patients. The goal of this initiative is to create a registry of subjects with FH across Canada. Rare diseases of lipoprotein metabolism are also included. Using a \"hub and spoke\" model, the registry extends in various communities to link primary care physicians with provincial academic centers. The registry includes clinical, biochemical and demographic information. Specimens (plasma\u002Fserum and DNA) are collected for biobanking. The \"local\" portion of the registry is available for clinicians to manage patient care, and identify relatives for screening and treatment (cascade screening). The Canada-wide registry, which is completely anonymized, will be made available to provide advice to general practitioners and to support collaborative studies in biomedical, clinical, health outcomes and health economics research. The data extracted for the provincial portion of the database will allow administrative database research that will provide important information to key stakeholders and permit allocation of resources. It will also allow a sound and uniform rationale for the use of novel therapeutic agents and provide expert advice to regulatory agencies. At the Canadian level, the database will allow clinicians and researchers to determine the burden of disease and the long-term effects of treatment. Through the creation of a Canada-wide network of academic clinics, integrating lipid specialists, endocrinologists and cardiologists, the Canadian FH registry will lead to significant benefits for FH patients, clinicians and researchers, biopharmaceutical industry and government.",[26,404],"Lipid Disorder",[406,407,408,409],"Familial hypercholesterolemia,","High LDL-cholesterol","Registry","Coronary artery disease","2023-10-02",{"date":412,"type":31},"2023-10-04",{"date":414,"type":4},"2013-11",{"date":416,"type":20},"2028-11",{"name":418,"class":38},"McGill University Health Centre\u002FResearch Institute of the McGill University Health Centre",{"id":420,"slug":421,"hasResults":11,"nctId":422,"briefTitle":423,"officialTitle":424,"acronym":4,"eligibilityCriteria":425,"healthyVolunteers":190,"sex":16,"minAge":426,"maxAge":427,"enrollmentInfo":428,"targetDuration":377,"studyType":50,"phases":4,"briefSummary":430,"conditions":431,"keywords":432,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":436,"lastUpdatePostDateStruct":437,"startDateStruct":439,"completionDateStruct":441,"leadSponsor":443,"locationsCount":4},"100502696","epirus-fh-reverse-cascade-screening-100502696","NCT05825612","EPIRUS FH Reverse Cascade Screening","Reverse Cascade Screening for Familial Hypercholesterolemia in Children and Adolescents in Northwest Greece","Inclusion Criteria:\n\n* LDL-C \\>160 mg\u002FdL on two seperate measurements 3 months apart\n* LDL-C \\>130 mg\u002FdL + family history of premature coronary artery disease or hypercholesterolemia in one parent\n* Children and adolescents on cholesterol-lowering medication\n\nExclusion Criteria:\n\n* Refusal to sign the consent form and disagreement with the terms of participation.\n* Any clinically significant disorder recognized at the time of the preliminary assessment, which in the judgment of the investigator would disqualify patient's participation in the study.","4 Years","16 Years",{"count":429,"type":20},1000,"Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If left untreated, lifelong exposure to elevated LDL-C leads to a substantially increased risk of premature cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, available evidence shows that FH is under-diagnosed and under-treated.\n\nChildhood is the optimal period for FH screening, because due to minimal dietary and hormonal influences, LDL-C levels reflect predominantly the genetic component in children and are well suited to discriminate FH from other causes of elevated LDL-C. If FH remains untreated in this latent stage of the disease, individuals show a 10-fold increase of cardiovascular risk during early and middle adulthood. In this context, an effective approach for detecting FH would be a screening during childhood or in young adolescents in combination with reverse cascade screening of first-degree relatives of FH individuals.\n\nEPIRUS-FH registry is a model program of reverse cascade screening for FH in children and adolescents in Northwest Greece that aims to increase public and physician awareness, strengthen the national registry of familial hypercholesterolemia (HELLAS-FH) and constitute the core for a national FH registry in children and adolescents in Greece.",[26],[433,434,435],"children","adolescents","reverse cascade screening","2023-04-11",{"date":438,"type":31},"2023-04-24",{"date":440,"type":20},"2023-05",{"date":442,"type":20},"2033-05",{"name":444,"class":38},"Hellenic Atherosclerosis Society",{"id":446,"slug":447,"hasResults":11,"nctId":448,"briefTitle":449,"officialTitle":450,"acronym":451,"eligibilityCriteria":452,"healthyVolunteers":11,"sex":16,"minAge":453,"maxAge":454,"enrollmentInfo":455,"targetDuration":377,"studyType":50,"phases":4,"briefSummary":456,"conditions":457,"keywords":458,"overallStatus":53,"whyStopped":4,"lastUpdateSubmitDate":465,"lastUpdatePostDateStruct":466,"startDateStruct":468,"completionDateStruct":470,"leadSponsor":471,"locationsCount":473},"100225171","russian-familial-hypercholesterolemia-registry-100225171","NCT02208869","Russian Familial Hypercholesterolemia Registry","Prospective Russian Study Evaluating the Extent of Underdiagnosed and Undertreated of Familial Hypercholesterolaemia in the Population","RuFH","Inclusion Criteria:\n\n* Total cholesterol ≥7.5 mmol\u002FL or LDL-C ≥4.9 mmol\u002FL (pretreatment levels)\n* Familial hypercholesterolemia defined as: a. Mutation in the LDL receptor and\u002For the ApoB gene and\u002For the PCSK9 gene; or b. clinical diagnosis of heterozygous FH (HeFH) according to the Dutch Lipid Network Criteria or Simon Broom Criteria\n* Patients with genetic mutation of FH\n\nExclusion Criteria:\n\n* uncontrolled primary hypothyroidism (thyroid stimulating hormone (TSH) \\>1.5 x upper limit of normal (ULN)),\n* nephrotic syndrome and\u002For renal dysfunction (scrum creatinine \\>2.0 mg\u002FdL or 160mmol\u002Fl, creatinine clearance \\\u003C15 ml\u002Fmin) at screening.\n* uncontrolled diabetes mellitus (Glycated hemoglobin \\>8.5%)","7 Years","80 Years",{"count":429,"type":20},"True prevalence of FH in the Russian Federation is unknown which leads to low percentage of diagnosed and treated cases. Research is needed to determine the prevalence of FH, specific diagnostic algorithms and optimal treatment strategies. The main aim of the present study is to evaluate the extent to which FH is underdiagnosed and undertreated in the Russian Federation for reduction of cardiovascular risk related to atherosclerosis in the country.\n\nAs a first step, total cholesterol (TC) and low-density lipoprotein (LDL-C) levels will be determined in a random sample from Moscow population (n=18000). It is expected that TC ≥ 7.5 mmol\u002FL will be detected in 10% of cohort. During 2014, approximately 500 patients will pass through non-invasive clinical examination at the Russian Cardiology Research and Production Center, including patient demographics, past medical history, family history of hypercholesterolemia, physical findings, current lipid-lowering therapies, blood tests, genetic analysis, echocardiography, carotid duplex ultrasound and exercise SPECT imaging in selected cases. On the basis of the Moscow Program four major Federal Medical Centers will be involved, and FH Registry will be created as a national, multi-center initiative to screen FH patients, control their diagnosis and management, and track clinical-reported outcomes over time.\n\nEstablishment of National Guidelines for the diagnosis and treatment of FH on the basis of these data and implementation those into clinical practice in different regions of Russia will allow improving patient care. As an expected outcome, this program will raise awareness and increase appropriate assessment and treatment of FH patients in Russia, leading to a timely detection of the disease and therapy initiation.",[26],[459,169,460,461,462,463,464],"familial hypercholesterolemia","prevention","registry","atherosclerosis","treatment","prevalence","2022-11-01",{"date":467,"type":31},"2022-11-02",{"date":469,"type":4},"2014-01",{"date":127,"type":20},{"name":472,"class":38},"Russian Cardiology Research and Production Center",5,{"id":475,"slug":476,"hasResults":11,"nctId":477,"briefTitle":478,"officialTitle":479,"acronym":480,"eligibilityCriteria":481,"healthyVolunteers":11,"sex":16,"minAge":108,"maxAge":482,"enrollmentInfo":483,"targetDuration":4,"studyType":21,"phases":485,"briefSummary":487,"conditions":488,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":489,"lastUpdatePostDateStruct":490,"startDateStruct":492,"completionDateStruct":494,"leadSponsor":496,"locationsCount":39},"100442576","phase-1-exosome-based-nanoplatform-for-ldlr-mrna-delivery-in-fh-100442576","NCT05043181","Exosome-based Nanoplatform for Ldlr mRNA Delivery in FH","Exosome-based Nanoplatform for Ldlr mRNA Delivery in Familial Hypercholesterolemia","ENDFH","Inclusion Criteria:\n\n1. Age 18-45, no gender limitation;\n2. Patients with homozygous familial hypercholesterolemia diagnosed by genetic testing.\n3. Understand the study and be willing to participate in the study with the informed consent signed\n\nExclusion Criteria:\n\n1. those who have severe comorbidities, including any of the following: A) unstable angina pectoris and\u002For congestive heart failure requiring hospitalization; B) myocardial infarction or cerebrovascular accident within the last 6 months; C) chronic obstructive pulmonary disease worsens or requires hospitalization; D) serious diseases of vascular, nervous system, blood, gastrointestinal and endocrine systems or metabolic disorders; E) autoimmune\u002Fimmune deficiency diseases such as rheumatoid arthritis, acquired immune deficiency syndrome, and so on; F) malignant tumor or other chronic infection.\n2. those who previously received targeted drug therapy, cell therapy, gene therapy or others immunotherapy;\n3. those who had organ transplants in the past;\n4. any of the following abnormalities are found in the laboratory examination: A) blood routine examination: absolute neutrophil count (ANC) \\\u003C 1.5×109\u002FL, or platelet (PLT) \\\u003C 50×109\u002FL, or hemoglobin (HGB) \\\u003C 80 g\u002FdL; B) coagulation function: prothrombin time (PT), or activated partial thrombin time (APTT), or INR \\> 1.5×ULN; C) liver function: total bilirubin (TBIL) \\> 2×ULN (upper limit of normal value), or alanine transferase (ALT), aspartate transferase (AST), alkaline phosphatase (ALP) \\> 5×ULN; D) renal function: serum creatinine (Cr) ≥1.5×ULN, or glomerular filtration rate (GFR) \\\u003C 60 mL\u002Fmin·1.73m2; E) cardiac ultrasound: left ventricular ejection fraction (LVEF) \\\u003C 50%.\n5. those who are known or expected to have an allergic reaction to or have a history of allergic reaction to any of the ingredients treated by this test;\n6. those who have a history of contrast agent allergic;\n7. those who have a clear history of mental disorders in the past;\n8. those who have a history of drug abuse or drug use;\n9. Pregnant or lactating women;\n10. Women of childbearing age and fertile men cannot take effective and adequate contraceptive measures (such as intrauterine device (IUD), condom, spermicidal gel plus condom, uterine cap, etc.) during the period of receiving the study drug and 3 months after the end of the study;\n11. those who participated in the clinical study of other drugs within 3 months before joining the group;\n12. Subjects that are not suitable to participate in this study for other reasons judged by the investigators.","45 Years",{"count":484,"type":20},30,[486],"PHASE1","mRNA therapy is a highly promising gene therapeutic strategy in the treatment of Homozygous Familial Hypercholesterolemia (HoFH). Exosomes is safe and efficient carriers for mRNA drug delivery, due to their biocompatibility, bioavailability. This first-in-human study is aimed to evaluate the safety and preliminary effectiveness of Exosome-based ldlr mRNA nanoplatform for gene therapy in HoFH.",[26],"2021-09-03",{"date":491,"type":31},"2021-09-14",{"date":493,"type":20},"2021-12",{"date":495,"type":20},"2026-12",{"name":497,"class":38},"Tang-Du Hospital"]