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Familial hypercholesterolemia

Genetic & Family HistoryGenetic / heritablerisknon modifiablegenetic-causal
72
evidence score

Also known as: familial hypercholesterolaemia, familial hypercholesterolemia (FH)

PREVENT status

Not a PREVENT input variable.

Causal support

genetic causal candidate

Score components
lit volume: 18meta-analyses: 9.1trials: 15genetic: 20MR bonus:
Associated genes
APOBLDLRPCSK9

References (62)

2 meta-analyses / systematic reviews

Clinical trials (70)

showing top 60
NCTTitleStatusTypeInterventions
NCT06960902Study of the Determinants of Coronary Atherosclerosis in Familial HypercholesterolemiaRECRUITINGINTERVENTIONALCoronary CT scan with CAC score measurement
NCT07058077An Operationally Seamless Phase 2/3 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Enlicitide Decanoate in Pediatric Participants With Heterozygous Familial HypercholesterolemiaRECRUITINGINTERVENTIONALEnlicitide Decanoate, Placebo
NCT06597006Two Part (Double-blind Inclisiran Versus Placebo [Year 1] Followed by Open-label Inclisiran [Year 2]) Randomized Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Inclisiran in Children (2 to Less Than 12 Years) With Homozygous Familial Hypercholesterolemia and Elevated LDL-cholesterolRECRUITINGINTERVENTIONALInclisiran, Placebo
NCT06597019Two Part (Double-blind Inclisiran Versus Placebo [Year 1] Followed by Open-label Inclisiran [Year 2]) Randomized Multicenter Study to Evaluate Safety, Tolerability and Efficacy of Inclisiran in Children (6 to Less Than 12 Years) With Heterozygous Familial Hypercholesterolemia and Elevated LDL- CholesterolRECRUITINGINTERVENTIONALInclisiran, Placebo
NCT05614219Can 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.RECRUITINGINTERVENTIONALBiochemistry interpretive comment on elevated LDL-C levels
NCT06125847A Clinical Study for the Safety and Efficacy of Intravenous Infusion of NGGT006 in Treatment of Homozygous Familial Hypercholesterolemia With LDLR MutationsRECRUITINGINTERVENTIONALNGGT006
NCT06293729A Clinical Study for the Safety and Efficacy of Intravenous Infusion of NGGT006 in Treatment of Refractory HypercholesterolemiaNOT YET RECRUITINGINTERVENTIONALNGGT006
NCT05758779Coronary CT Screening of Patients With Familial Hypercholesterolemia - The Prevalence of Subclinical Atherosclerosis in Familial Hypercholesterolemia in the Region of Southern DenmarkACTIVE NOT RECRUITINGINTERVENTIONALVisualization of coronary Imaging and oral description
NCT05952856A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-0616 in Adults With HypercholesterolemiaCOMPLETEDINTERVENTIONALEnlicitide Decanoate, Placebo
NCT05952869A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-0616 in Adults With Heterozygous Familial Hypercholesterolemia.COMPLETEDINTERVENTIONALEnlicitide Decanoate, Placebo
NCT05261126A Phase 2b, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-0616 in Adults With HypercholesterolemiaCOMPLETEDINTERVENTIONALEnclitide Chloride, Placebo
NCT05043181Exosome-based Nanoplatform for Ldlr mRNA Delivery in Familial HypercholesterolemiaNOT YET RECRUITINGINTERVENTIONALLow Density Lipoprotein Receptor mRNA Exosomes
NCT04797104Randomized, Double-Blind, Placebo-Controlled, Phase 3 Study to Evaluate the Long-Term Efficacy and Safety of LIB003 in Heterozygous FH Patients on Stable Lipid-Lowering Therapy Requiring Additional LDL-C ReductionCOMPLETEDINTERVENTIONALlerodalcibep
NCT04666298A Placebo-controlled, Double-blind, Randomized Trial to Evaluate the Effect of Different Doses of Inclisiran Given as Subcutaneous Injections in Japanese Participants With High Cardiovascular Risk and Elevated LDL-CCOMPLETEDINTERVENTIONALInclisiran sodium, Placebo
NCT04759534Phase III Clinical Study to Evaluate the Efficacy and Safety of PCSK9 Inhibitors in the Prevention of Chinese Heterozygous Familial HypercholesterolemiaUNKNOWNINTERVENTIONALprotein convertase subtilisin/kexin type 9 inhibitor
NCT04656028Impact of Genetic Testing and Motivational Counseling on the Adherence to Healthy Lifestyle and Hypolipidemic Therapy and Efficiency of Cascade Screening in Patients With Familial Hypercholesterolemia (GENMOTIV-FH)ACTIVE NOT RECRUITINGINTERVENTIONALGenetic Testing, Motivational Counseling, Lipid analysis
NCT04034485Randomized, Open-Label, Cross-Over, Phase 3 Study to Evaluate the Efficacy and Safety of LIB003 With Evolocumab in Homozygous Familial Hypercholesterolemia Patients on Stable Lipid-Lowering TherapyCOMPLETEDINTERVENTIONALlerodalcibep, evolocumab
NCT03933293A Phase 2 Study to Evaluate the Safety and Efficacy of PCSK9 Inhibitor AK102 in Patients With Homozygous Familial Hypercholesterolemia (HoFH)COMPLETEDINTERVENTIONALAK102, Statins, Ezetimibe
NCT03814187An Open-label Extension Trial of the Phase III Lipid-lowering Trials to Assess the Effect of Long Term Dosing of Inclisiran Given as Subcutaneous Injections in Subjects With High Cardiovascular Risk and Elevated LDL-CCOMPLETEDINTERVENTIONALInclisiran Sodium
NCT03851705A Two-Part (Double-Blind Placebo Controlled/Open-Label) Multicenter Study to Evaluate Safety, Tolerability, and Efficacy of Inclisiran in Subjects With Homozygous Familial Hypercholesterolemia (Hofh) (ORION-5)COMPLETEDINTERVENTIONALInclisiran Sodium for injection, Placebo, Placebos
NCT06231459Expression of Pro- and Anti-inflammatory Cytokines During Anti-PCSK9 Therapy in Patients With Statin-resistant Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALEvolocumab
NCT03331666Impact of LDL-cholesterol Lowering on Platelet ActivationTERMINATEDINTERVENTIONALEvolocumab
NCT03694197Long Term Safety Study of PRALUENT in Patients With Heterozygous Familial Hypercholesterolemia or With Non-Familial Hypercholesterolemia at High and Very High Cardiovascular Risk and Previously Enrolled in the Neurocognitive Function TrialTERMINATEDINTERVENTIONALPraluent
NCT03510715An Open-Label Study to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab SAR236553 (REGN727), Atorvastatin, Simvastatin
NCT03403374A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in IndiaCOMPLETEDINTERVENTIONALevolocumab
NCT03510884A Randomized, Double-Blind, Placebo-Controlled Study Followed by an Open Label Treatment Period to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab SAR236553 (REGN727), Rosuvastatin, Atorvastatin
NCT03501875Study of Coronary Calcification in Subjects With Autosomal Dominant Familial Hypercholesterolemia HeterozygousCOMPLETEDINTERVENTIONALCAC Score
NCT05465278Clinical Trial to Evaluate the Effect of Alirocumab on the Volume, Architecture and Composition of Atherosclerotic Plaque in Patients With Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab
NCT03156621A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Alirocumab in Patients With Homozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab, Placebo
NCT03060577An Open Label, Active Comparator Extension Trial to Assess the Effect of Long Term Dosing of Inclisiran and Evolocumab Given as Subcutaneous Injections in Participants With High Cardiovascular Risk and Elevated LDL-C (ORION-3)COMPLETEDINTERVENTIONALInclisiran, Evolocumab
NCT02963311An Open-Label, Single-Arm, Multicenter Pilot Study to Evaluate Safety, Tolerability, and Efficacy of ALN-PCSSC in Subjects With Homozygous Familial Hypercholesterolemia (HoFH)COMPLETEDINTERVENTIONALALN-PCSSC, Standard of Care
NCT02957682A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Effect of Praluent on Neurocognitive Function in Patients With Heterozygous Familial Hypercholesterolemia or With Non-Familial Hypercholesterolemia at High and Very High Cardiovascular RiskCOMPLETEDINTERVENTIONALPraluent (Alirocumab), Placebo
NCT04722068A Kinetic Study Investigating Lipoprotein Metabolism Before and After the Administration of REGN1500, an ANGPTL3 Inhibitor, in Patients With Homozygous Familial Hypercholesterolemia. A Sub-study for Subjects Enrolled in the R1500-CL-1331 Clinical TrialCOMPLETEDINTERVENTIONALKinetics test
NCT02890992An 8-Week Open-Label, Sequential, Repeated Dose-Finding Study to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Heterozygous Familial Hypercholesterolemia Followed by an Extension PhaseCOMPLETEDINTERVENTIONALalirocumab SAR236553 (REGN727), statins, ezetimibe
NCT02624869Open-label, Single-Arm, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Evolocumab for LDL-C Reduction, as Add-on to Diet and Lipid-lowering Therapy, in Pediatric Subjects From 10 to 17 Years of Age With Heterozygous Familial Hypercholesterolemia (HeFH) or Homozygous Familial Hypercholesterolemia (HoFH)COMPLETEDINTERVENTIONALEvolocumab
NCT02748057A Phase III, Open-label, Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653H in Japanese Patients With Hypercholesterolemia Who Have Inadequate LDL-C Control on Ezetimibe or Rosuvastatin MonotherapyCOMPLETEDINTERVENTIONALEzetimibe, Rosuvastatin
NCT02392559Double-blind, Randomized, Multicenter, Placebo-Controlled Study to Characterize the Efficacy, Safety, and Tolerability of 24 Weeks of Evolocumab for LDL-C Reduction in Pediatric Subjects 10 to 17 Years of Age With HeFHCOMPLETEDINTERVENTIONALEvolocumab, Placebo
NCT02709850A Placebo-Controlled, Dose-Escalation Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single and Multiple Doses of ISIS 703802, Targeting ANGPTL3, Administered Subcutaneously to Healthy Volunteers With Elevated Triglycerides and Subjects With Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALIONIS ANGPTL3-LRx, Placebo
NCT02460159A Phase III, Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Patients With Hypercholesterolemia Who Have Inadequate LDL-C Control on Ezetimibe or Atorvastatin Calcium MonotherapyCOMPLETEDINTERVENTIONALEZ 10 mg/Atorva 20 mg FDC, EZ 10 mg/Atorva 10 mg FDC
NCT02326220A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Alirocumab in Patients With Heterozygous Familial Hypercholesterolemia Undergoing Lipid Apheresis TherapyCOMPLETEDINTERVENTIONALPlacebo, Alirocumab
NCT02107898A Randomized, Double-blind, Placebo-controlled, Parallel Group, Multicenter Study to Evaluate the Efficacy and Safety of Alirocumab in Heterozygous Familial Hypercholesterolemia or High Cardiovascular Risk Patients With Hypercholesterolemia Not Adequately Controlled With Their Lipid Modifying TherapyCOMPLETEDINTERVENTIONALPlacebo (for alirocumab), Alirocumab, Lipid-Modifying Therapy (LMT)
NCT01954394Open-Label Extension Study of EFC12492, R727-CL-1112, EFC12732 and LTS11717 Studies to Assess the Long-Term Safety and Efficacy of Alirocumab in Patients With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab, Lipid-Modifying Therapy (LMT)
NCT01763918A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Safety, Tolerability and Efficacy of AMG 145 on LDL-C in Subjects With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALEvolocumab, Placebo
NCT01709500A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of REGN727/SAR236553 in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying TherapyCOMPLETEDINTERVENTIONALLMT (atorvastatin, simvastatin, or rosuvastatin), alirocumab, Placebo
NCT01623115A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of SAR236553/REGN727 in Patients With Heterozygous Familial Hypercholesterolemia Not Adequately Controlled With Their Lipid-Modifying TherapyCOMPLETEDINTERVENTIONALAlirocumab, Placebo (for alirocumab), Lipid Modifying Therapy (LMT)
NCT01624142A Multicenter, Open-label Study to Assess the Long-term Safety, Tolerability, and Efficacy of Evolocumab (AMG145) on LDL-C in Subjects With Severe Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALEvolocumab
NCT01617655A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Efficacy and Safety of SAR236553/REGN727 in Patients With Heterozygous Familial Hypercholesterolemia and LDL-C Higher or Equal to 160mg/dL With Their Lipid-Modifying TherapyCOMPLETEDINTERVENTIONALAlirocumab, Placebo (for alirocumab), Lipid Modifying Therapy (LMT)
NCT01576484A Phase 2, Open-Label Extension of Study R727-CL-1003 to Evaluate the Long-Term Safety and Efficacy of REGN727 Administered by Subcutaneous Injection in Patients With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab, Placebo Matched to Alirocumab
NCT01524289A 1-Year, Worldwide, Multicenter, Double-Blind, Randomized, Parallel, Placebo-Controlled Study to Assess the Efficacy and Tolerability of Anacetrapib When Added to Ongoing Statin Therapy With or Without Other Lipid Modifying Medication(s) in Patients With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAnacetrapib, Placebo
NCT01475825A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study Followed by an Open-Label Continuation Period to Assess the Safety and Efficacy of Two Different Regimens of Mipomersen in Patients With Familial Hypercholesterolemia and Inadequately Controlled Low-Density Lipoprotein CholesterolCOMPLETEDINTERVENTIONALmipomersen sodium 200 mg, Placebo, mipomersen sodium 70 mg
NCT01375751A Double-blind, Randomized, Placebo-controlled, Multicenter Study to Evaluate Tolerability and Efficacy of AMG 145 on LDL-C in Subject With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALEvolocumab, Placebo
NCT01266876A Randomized, Double-Blind, Placebo-Controlled, 12-Week Study of the Safety and Efficacy of REGN727 in Patients With Heterozygous Familial HypercholesterolemiaCOMPLETEDINTERVENTIONALAlirocumab, Placebo
NCT01995149Effect of Weight Loss on Lipids Concentration and Cholesterol Metabolism in Overweight and Obese Subjects With Primary Hypercholesterolemia.COMPLETEDINTERVENTIONALWeight loss and dietary intervention
NCT00924274Effect of a Diet With Rapeseed Oil /Sunflower Oil on Lipoprotein in Children and Adolescents With Familial HypercholesterolemiaUNKNOWNINTERVENTIONALrapeseed oil, sunflower oil
NCT00295373Phase 4 Clinical Trial to Examine the Role of Rosuvastatin and Exercise Treatment in Modulating Inflammatory Response in Hypercholesterolemic SubjectsUNKNOWNINTERVENTIONALRosuvastatin, Exercise Training
NCT00916643Post Marketing Surveillance Study for LDL Apheresis Using H.E.L.P. TherapyCOMPLETEDINTERVENTIONALHELP Secura (apheresis treatment)
NCT04272697European Atherosclerosis Society Familial Hypercholesterolaemia Studies CollaborationRECRUITINGOBSERVATIONAL
NCT06958315An Observational Prospective Study to Assess the Effectiveness of Inclisiran(Leqvio®)in Patients With Atherosclerotic Vascular Disease and/or Heterozygous Familial Hypercholesterolemia Treated in Spanish Clinical Practice:the INSPIRE StudyACTIVE NOT RECRUITINGOBSERVATIONALInclisiran
NCT06112327Long-term Follow-up Study of Investigational Gene-editing Therapies in Participants With or at High Risk for Cardiovascular DiseaseENROLLING BY INVITATIONOBSERVATIONAL
NCT07023445Patterns of Inclisiran Use in the Real World: A Retrospective Analysis of US DatabasesCOMPLETEDOBSERVATIONAL

Genetic associations (418)

showing top 80 by significance
VariantGene(s)TraitpOR/βStudy
LDLR, SMARCA41e-2305—GCST90239655
LDLR, SMARCA41e-1793—GCST90239673
LDLR, SMARCA41e-15750.214907 unit decreaseGCST90239658
LDLR, SMARCA41e-1498—GCST90239667
LDLR, SMARCA41e-11690.185201 unit decreaseGCST90239676
LDLR, SMARCA41e-10750.213664 unit decreaseGCST90239670
LDLR1e-9470.2412 unit decreaseGCST90019512
LDLR1e-8300.2262 unit decreaseGCST90019496
LDLR1e-7950.2209 unit decreaseGCST90019501
APOB1e-6220.13 % decreaseGCST90501130
LDLR, SMARCA41e-5220.1779 unit decreaseGCST90018961
APOB1e-5060.12 mmol/L decreaseGCST90501268
APOB1e-4770.11 % increaseGCST90501124
APOB1e-4420.1 % increaseGCST90501151
LDLR, SMARCA41e-4280.1611 unit decreaseGCST90018974
APOB1e-4200.1 % increaseGCST90501122
APOB1e-4180.525 unit increaseGCST90247157
APOB1e-4010.11 mmol/L decreaseGCST90501265
APOB1e-398—GCST90239661
APOB1e-3890.1 ratio decreaseGCST90501273
APOB1e-3890.1 % decreaseGCST90501245
APOB1e-3880.11 % decreaseGCST90501197
APOB1e-3830.1 mmol/L decreaseGCST90501328
APOB1e-3820.1 % increaseGCST90501199
LDLR1e-3800.1526 unit increaseGCST90662892
APOB1e-3640.1 mmol/L decreaseGCST90501264
APOB1e-3590.1 % decreaseGCST90501149
APOB1e-3530.1 mmol/L decreaseGCST90501160
APOB1e-3410.1 mmol/L decreaseGCST90501158
LDLR, SMARCA41e-3400.13 mmol/L decreaseGCST90501208
APOB1e-3390.1 mmol/L decreaseGCST90501216
APOB, LINC028501e-3350.0839859 unit decreaseGCST010243
LDLR, SMARCA41e-3270.12 mmol/L decreaseGCST90501129
LDLR1e-3260.142 unit decreaseGCST90662895
APOB1e-3260.09 mmol/L decreaseGCST90501166
APOB1e-3230.09 % decreaseGCST90501193
LDLR, SMARCA41e-3210.12 mmol/L decreaseGCST90501125
LDLR, SMARCA41e-3200.2744 unit increaseGCST90475205
LDLR, SMARCA41e-3190.12 mmol/L decreaseGCST90501128
APOB1e-3160.1 % increaseGCST90501203
APOB1e-3150.09 mmol/L decreaseGCST90501162
APOB1e-3130.09 mmol/L decreaseGCST90501332
APOB, TDRD151e-3120.0831886 unit decreaseGCST010245
LDLR, SMARCA41e-3110.12 mmol/L decreaseGCST90501250
LDLR, SMARCA41e-3090.12 mmol/L decreaseGCST90501121
LDLR, SMARCA41e-3080.142 unit increaseGCST90480714
APOB1e-3080.09 mmol/L decreaseGCST90501330
APOB1e-3080.09 mmol/L decreaseGCST90501165
LDLR, SMARCA41e-3070.12 mmol/L decreaseGCST90501127
APOB, LINC028501e-3060.095 unit decreaseGCST010204
APOB1e-3060.09 mmol/L decreaseGCST90501164
LDLR, SMARCA41e-3030.1445 unit increaseGCST90475416
LDLR, SMARCA41e-2990.12 mmol/L decreaseGCST90501123
APOB1e-2950.09 mmol/L decreaseGCST90501310
APOB1e-2940.09 mmol/L decreaseGCST90501293
APOB1e-2940.09 mmol/L decreaseGCST90501334
APOB1e-293—GCST90239649
APOB1e-2910.09 mmol/L decreaseGCST90501306
LDLR, SMARCA41e-2900.12 mmol/L decreaseGCST90501254
LDLR, SMARCA41e-2900.11 mmol/L decreaseGCST90501320
LDLR, SMARCA41e-2880.12 mmol/L decreaseGCST90501153
APOB1e-2850.09 mmol/L decreaseGCST90501289
APOB1e-2840.08 % increaseGCST90501251
APOB1e-2820.09 % decreaseGCST90501327
LDLR, SMARCA41e-2810.1334 mg dl-1 increaseGCST006614
LDLR, SMARCA41e-2800.11 mmol/L decreaseGCST90501154
LDLR, SMARCA41e-2800.11 mmol/L decreaseGCST90501206
LDLR, SMARCA41e-2780.075399 unit decreaseGCST90250902
APOB1e-2780.09 mmol/L decreaseGCST90501282
APOB1e-2770.08 nm decreaseGCST90501292
LDLR, SMARCA41e-2760.11 % decreaseGCST90501215
APOB1e-2750.09 mmol/L decreaseGCST90501308
APOB1e-2750.09 mmol/L decreaseGCST90501314
APOB1e-2740.09 mmol/L decreaseGCST90501256
LDLR, SMARCA41e-2700.11 mmol/L decreaseGCST90501318
APOB1e-2700.09 mmol/L decreaseGCST90501313
LDLR, SMARCA41e-2690.11 mmol/L decreaseGCST90501178
APOB1e-2681.566 unit increaseGCST90248940
APOB1e-2670.09 mmol/L decreaseGCST90501291
LDLR, SMARCA41e-2660.2757 unit increaseGCST90479547