Heterozygous Familial Hypercholesterolemia (HeFH) (DBCOND0063124)

Identifiers

Synonyms

Familial Hypercholesterolemia - Heterozygous / Heterozygous Familial Hypercholesterolaemia / Heterozygous Familial Hypercholesterolemia / Familial hypercholesterolemia - heterozygous (disorder) / Pure hypercholesterolemia, unspecified / Type IIa hyperlipoproteinemia / Hyperlipoproteinemia Type IIa / Fredrickson Type IIa hyperlipoproteinemia / Fredrickson type IIa hyperlipoproteinemia (disorder) / Type IIa hyperlipoproteinaemia / Fredrickson Type IIa hyperlipoproteinaemia / Fredrickson Type IIa hyperlipidemia / Fredrickson Type IIa hyperlipidaemia / Fredrickson Type IIa lipidemia / Fredrickson Type IIa lipidaemia / Type IIa hyperlipidaemia / Type IIa hyperlipidemia

Associated Data

Indicated Drugs and Targets

Drug	Description	Targets
Acetylsalicylic acid	A salicylate used to treat pain, fever, inflammation, migraines, and reducing the risk of major adverse cardiovascular events.	Prostaglandin G/H synthase 1target Prostaglandin G/H synthase 2target Aldo-keto reductase family 1 member C1target Solute carrier family 22 member 6transporter ATP-dependent translocase ABCB1transporter Cytochrome P450 2C19enzyme Cytochrome P450 2C9enzyme 5'-AMP-activated protein kinasetarget Endothelin-1 receptortarget Cellular tumor antigen p53target Endoplasmic reticulum chaperone BiPtarget Ribosomal protein S6 kinase alpha-3target NF-kappa-B inhibitor alphatarget Tumor necrosis factor-inducible gene 6 proteintarget Caspase-1target Caspase-3target Inhibitor of nuclear factor kappa-B kinase subunit betatarget Extracellular signal-regulated kinase (ERK)target G1/S-specific cyclin-D1target Myc proto-oncogene proteintarget Proliferating cell nuclear antigentarget Cyclin Atarget UDP-glucuronosyltransferase 1-6enzyme Arylamine N-acetyltransferase 2enzyme Organic anion transporter 3transporter Sialidase-1target 3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget
Alirocumab	A PCSK9 inhibitor used as an adjunct to manage heterozygous familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease in patients who require additional lowering of LDL-cholesterol (LDL-C).	Proprotein convertase subtilisin/kexin type 9target
Atorvastatin	An HMG-CoA reductase inhibitor used to lower lipid levels and reduce the risk of cardiovascular disease including myocardial infarction and stroke.	3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Cytochrome P450 3A4enzyme Dipeptidyl peptidase 4target Cytochrome P450 2D6enzyme Cytochrome P450 2C9enzyme Cytochrome P450 2C19enzyme Cytochrome P450 3A5enzyme Cytochrome P450 3A7enzyme ATP-dependent translocase ABCB1transporter Solute carrier organic anion transporter family member 1A2transporter Solute carrier organic anion transporter family member 1B1transporter ATP-binding cassette sub-family C member 4transporter ATP-binding cassette sub-family C member 5transporter Multidrug resistance-associated protein 1transporter Cytochrome P450 2B6enzyme Cytochrome P450 2C8enzyme Aryl hydrocarbon receptortarget Solute carrier organic anion transporter family member 2B1transporter Solute carrier organic anion transporter family member 1B3transporter UDP-glucuronosyltransferase 1A1enzyme UDP-glucuronosyltransferase 1A3enzyme ATP-binding cassette sub-family C member 2transporter Bile salt export pumptransporter Albumincarrier Histone deacetylase 2target Nuclear receptor subfamily 1 group I member 3target
Bempedoic acid	A drug used in conjunction with lifestyle modification and/or other agents for the treatment of refractory hypercholesterolemia.	ATP-citrate synthasetarget Long-chain fatty acid transport protein 2enzyme Solute carrier organic anion transporter family member 1B1transporter ATP-binding cassette sub-family C member 3transporter Solute carrier organic anion transporter family member 1B3transporter UDP-glucuronosyltransferase 2B7enzyme NUAK family SNF1-like kinase 2enzyme
Colesevelam	A bile acid sequestrant used to lower LDL-C in adults with hyperlipidemia and pediatric patients with heterozygous familial hypercholesterolemia, and to improve glycemic control in type 2 diabetes.	Bile acidstarget
Evolocumab	A PCSK9 (proprotein convertase subtilisin kexin type 9) inhibitor antibody used as an adjunct to LDL cholesterol reducing therapies, aiding in the prevention of cardiovascular events and cardiovascular revascularization procedures.	Proprotein convertase subtilisin/kexin type 9target
Ezetimibe	A cholesterol absorption inhibitor used to lower total cholesterol, LDL-C, Apo-B, and non-HDL-C in primary hyperlipidemia and familial cholesterolemia.	NPC1-like intracellular cholesterol transporter 1target Aminopeptidase Ntarget Sterol O-acyltransferase 1target UDP-glucuronosyltransferase 1A1enzyme UDP-glucuronosyltransferase 1A3enzyme ATP-dependent translocase ABCB1transporter ATP-binding cassette sub-family C member 2transporter Solute carrier organic anion transporter family member 1B1transporter UDP-glucuronosyltransferase 2B15enzyme UDP-glucuronosyltransferase 2B7enzyme Cytochrome P450 3A4enzyme ATP-binding cassette sub-family C member 3transporter Broad substrate specificity ATP-binding cassette transporter ABCG2transporter Cytochrome P450 2C8enzyme Bile salt export pumptransporter
Fluvastatin	An HMG-CoA reductase inhibitor used to lower lipid levels and reduce the risk of cardiovascular disease including myocardial infarction and stroke.	3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Cytochrome P450 2C9enzyme Cytochrome P450 3A4enzyme Cytochrome P450 2C8enzyme Cytochrome P450 2D6enzyme Cytochrome P450 2C19enzyme Cytochrome P450 1A1enzyme Solute carrier organic anion transporter family member 1B1transporter Solute carrier organic anion transporter family member 1B3transporter Solute carrier organic anion transporter family member 2B1transporter Solute carrier family 15 member 1transporter Cytochrome P450 3A5enzyme UDP-glucuronosyltransferase 1A1enzyme UDP-glucuronosyltransferase 1A3enzyme UDP-glucuronosyltransferase 2B7enzyme ATP-binding cassette sub-family C member 2transporter Cytochrome P450 2B6enzyme Histone deacetylase 2target
Inclisiran	A PCSK9-targeting short interfering RNA (siRNA) that lowers plasma LDL-cholesterol levels.	Proprotein convertase subtilisin/kexin type 9target
Lovastatin	An HMG-CoA reductase inhibitor used to lower LDL cholesterol and reduce the risk of cardiovascular disease and associated conditions, including myocardial infarction and stroke.	3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Cytochrome P450 3A4enzyme Cytochrome P450 2C8enzyme Integrin alpha-Ltarget Histone deacetylase 2target Serum paraoxonase/lactonase 3enzyme ATP-dependent translocase ABCB1transporter Solute carrier organic anion transporter family member 1A2transporter Solute carrier organic anion transporter family member 1B1transporter UDP-glucuronosyltransferase 1A1enzyme UDP-glucuronosyltransferase 1A3enzyme UDP-glucuronosyltransferase 2B7enzyme ATP-binding cassette sub-family C member 2transporter Bile salt export pumptransporter Albumincarrier Cytochrome P450 2C19enzyme Solute carrier organic anion transporter family member 2B1transporter Solute carrier organic anion transporter family member 1B3transporter
Pitavastatin	An HMG-CoA reductase inhibitor used to lower lipid levels and reduce the risk of cardiovascular disease including myocardial infarction and stroke.	Solute carrier organic anion transporter family member 1B1transporter Solute carrier organic anion transporter family member 1B3transporter UDP-glucuronosyltransferase 2B7enzyme UDP-glucuronosyltransferase 1A3enzyme Cytochrome P450 2C9enzyme Cytochrome P450 2C8enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Solute carrier organic anion transporter family member 2B1transporter Hepatic sodium/bile acid cotransportertransporter Broad substrate specificity ATP-binding cassette transporter ABCG2transporter ATP-dependent translocase ABCB1transporter ATP-binding cassette sub-family C member 2transporter Albumincarrier Alpha-1-acid glycoprotein 1carrier Bile salt export pumptransporter Integrin alpha-Ltarget
Pravastatin	An HMG-CoA reductase inhibitor used to lower lipid levels and to reduce the risk of cardiovascular events, including myocardial infarction and stroke.	3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Solute carrier organic anion transporter family member 2B1transporter ATP-dependent translocase ABCB1transporter Solute carrier organic anion transporter family member 1A2transporter Solute carrier family 22 member 6transporter Organic anion transporter 3transporter ATP-binding cassette sub-family C member 2transporter Solute carrier family 22 member 11transporter Broad substrate specificity ATP-binding cassette transporter ABCG2transporter Solute carrier family 22 member 7transporter Solute carrier organic anion transporter family member 1B1transporter Monocarboxylate transporter 1transporter Bile salt export pumptransporter Solute carrier organic anion transporter family member 1B3transporter Histone deacetylase 2target
Rosuvastatin	An HMG-CoA reductase inhibitor used to lower lipid levels and reduce the risk of cardiovascular disease including myocardial infarction and stroke.	3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Cytochrome P450 2C9enzyme ATP-binding cassette sub-family C member 4transporter Solute carrier organic anion transporter family member 1A2transporter Solute carrier organic anion transporter family member 1B3transporter Solute carrier organic anion transporter family member 2B1transporter Cystine/glutamate transportertransporter Solute carrier organic anion transporter family member 1B1transporter Bile salt export pumptransporter Broad substrate specificity ATP-binding cassette transporter ABCG2transporter Albumincarrier ATP-binding cassette sub-family C member 2transporter Organic anion transporter 3transporter Hepatic sodium/bile acid cotransportertransporter Integrin alpha-Ltarget
Simvastatin	An HMG-CoA reductase inhibitor used to lower lipid levels and reduce the risk of cardiovascular events including myocardial infarction and stroke.	3-hydroxy-3-methylglutaryl-coenzyme A reductasetarget Cytochrome P450 3A4enzyme Cytochrome P450 2C8enzyme Cytochrome P450 2C9enzyme Cytochrome P450 3A5enzyme ATP-dependent translocase ABCB1transporter Solute carrier organic anion transporter family member 1A2transporter Solute carrier organic anion transporter family member 1B1transporter Cytochrome P450 2B6enzyme Cytochrome P450 2D6enzyme UDP-glucuronosyltransferase 1A1enzyme UDP-glucuronosyltransferase 1A3enzyme UDP-glucuronosyltransferase 2B7enzyme ATP-binding cassette sub-family C member 2transporter Integrin alpha-Ltarget Bile salt export pumptransporter Cytochrome P450 2C19enzyme Solute carrier organic anion transporter family member 2B1transporter Solute carrier organic anion transporter family member 1B3transporter Histone deacetylase 2target Cocaine esteraseenzyme Liver carboxylesterase 1enzyme

Clinical Trials

Identifier	Title	Drug(s)	Purpose	Phase	Status
NCT01824238	A Study of the Safety and Efficacy of Anacetrapib (MK-0859) When Added to Ongoing Statin Therapy in Japanese Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-050)	Anacetrapib	treatment	3	completed
NCT06597019	Study to Evaluate Efficacy and Safety of Inclisiran in Children With Heterozygous Familial Hypercholesterolemia	Inclisiran	treatment	3	not_yet_recruiting
NCT04652726	Study to Evaluate Efficacy and Safety of Inclisiran in Adolescents With Heterozygous Familial Hypercholesterolemia	Inclisiran	treatment	3	active_not_recruiting
NCT05218005	Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia	No drug interventions	diagnostic	Not Available	recruiting
NCT04656028	Genetic Testing and Motivational Counseling for FH	No drug interventions	treatment	Not Available	recruiting
NCT02517944	MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA (CHOLCOEUR)	No drug interventions	Not Available	Not Available	unknown_status
NCT03501875	Study of Coronary Calcification in Subjects With Autosomal Dominant Familial Hypercholesterolemia Heterozygous	No drug interventions	diagnostic	Not Available	completed
NCT04370899	Early Detection of Familial Hypercholesterolemia in Children	No drug interventions	Not Available	Not Available	recruiting
NCT01410383	Efficacy and Safety Study of Eprotirome in HeFH Patients Who Are on Optimal Standard of Care	Eprotirome	treatment	3	terminated
NCT06634160	Assessment of the Prevalence of Steatotic Liver Disease Associated with Metabolic Dysfunction in Patients with Heterozygous Familial Hypercholesterolemia	No drug interventions	Not Available	Not Available	not_yet_recruiting
NCT05325203	A Study to Evaluate the Efficacy and Safety of JS002 in Patients With Heterozygous Familial Hypercholesterolemia (HeFH).	Ongericimab	treatment	3	completed
NCT01576484	Open-Label Extension of Study R727-CL-1003 (NCT01266876) to Evaluate the Long-Term Safety and Efficacy of Alirocumab (REGN727) in Participants With Heterozygous Familial Hypercholesterolemia (HeFH)	Alirocumab	treatment	2	completed
NCT03563547	Effects of Soy Protein on Cholesterol Levels in Children Affected With Familial Hypercholesterolemia	No drug interventions	treatment	Not Available	completed
NCT03694197	Long Term Safety Study of PRALUENT	Alirocumab	treatment	4	terminated
NCT04173793	A Study of PCSK9 Inhibitor AK102 in Patients With Heterozygous Familial Hypercholesterolemia (HeFH)	Ezetimibe	treatment	2	completed
NCT00151788	Efficacy and Safety of the ACAT Inhibitor CS-505 (Pactimibe) for Reducing the Progression of Carotid Artery Disease. This Study is Also Known as CAPTIVATE.	No drug interventions	treatment	2 / 3	terminated
NCT02392559	Trial Assessing Efficacy, Safety and Tolerability of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibition in Paediatric Subjects With Genetic Low-Density Lipoprotein (LDL) Disorders	Evolocumab	treatment	3	completed
NCT02460159	A Clinical Trial to Assess the Long Term Safety and Tolerability of MK-0653C in Japanese Participants With Hypercholesterolemia (MK-0653C-384)	No drug interventions	treatment	3	completed
NCT00706849	Efficacy and Safety Study of ISIS 301012 (Mipomersen) as Add-on in Familial Hypercholesterolemic Patients With Coronary Artery Disease	Mipomersen	treatment	3	completed
NCT00171236	Efficacy and Safety of Fluvastatin in Children With Heterozygous Familial Hypercholesterolemia	Fluvastatin	treatment	3	completed
NCT03038022	Study of MGL-3196 in Patients With Heterozygous Familial Hypercholesterolemia (HeFH)	Resmetirom	treatment	2	completed
NCT06164730	A Study of VERVE-102 in Patients With Familial Hypercholesterolemia or Premature Coronary Artery Disease	No drug interventions	treatment	1	recruiting
NCT06112327	Long-term Follow-up of Participants Dosed With an Investigational Gene Editing Therapy for Cardiovascular Disease	No drug interventions	Not Available	Not Available	enrolling_by_invitation
NCT03397121	Trial to Evaluate the Effect of Inclisiran Treatment on Low Density Lipoprotein Cholesterol (LDL-C) in Subjects With Heterozygous Familial Hypercholesterolemia (HeFH)	Inclisiran	treatment	3	completed
NCT03814187	Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C	Inclisiran	treatment	3	completed
NCT01583647	A Study of Extended-release (ER) Niacin/Laropiprant in Adolescents With Heterozygous Familial Hypercholesterolemia (MK-0524A-158)	Laropiprant Niacin	treatment	1	terminated
NCT04666298	Study of Efficacy and Safety of Inclisiran in Japanese Participants With High Cardiovascular Risk and Elevated LDL-C	Inclisiran	treatment	2	completed
NCT06568471	A Study on Efficacy and Safety of HST101 in Chinese Patients With Hypercholesterolemia	Lerodalcibep	treatment	3	not_yet_recruiting
NCT01709500	Study of Alirocumab (REGN727/SAR236553) in Patients With heFH (Heterozygous Familial Hypercholesterolemia) Who Are Not Adequately Controlled With Their LMT (Lipid-Modifying Therapy)	Alirocumab Atorvastatin Rosuvastatin Simvastatin	treatment	3	completed
NCT02976818	Lp(a) and Aortic Valve Calcification	No drug interventions	Not Available	Not Available	completed
NCT01515241	Exploratory Study of Plaque Regression	CER-001	treatment	2	completed
NCT04759534	Application of PCSK9 Inhibitors in Patients With Heterozygous Familial Hypercholesterolemia	No drug interventions	treatment	3	unknown_status
NCT02326220	Study of Alirocumab (REGN727/SAR236553) in Patients With Heterozygous Familial Hypercholesterolemia (HeFH) Undergoing Low-density Lipoprotein (LDL) Apheresis Therapy	Alirocumab	treatment	3	completed
NCT01968980	A 52 Week Study To Assess The Use Of Bococizumab (PF-04950615; RN316) In Subjects With Heterozygous Familial Hypercholesterolemia	Bococizumab	treatment	3	completed
NCT05398029	A Study of VERVE-101 in Patients With Familial Hypercholesterolemia and Cardiovascular Disease	No drug interventions	treatment	1	active_not_recruiting
NCT04797104	Study to Assess the Efficacy and Safety of LIB003 in HeFH Patients on Oral Lipid Therapy Needing Further LDL-C Reduction	Lerodalcibep	treatment	3	completed
NCT04179669	Safety and Efficacy of IBI306 in HeFH Patients	Tafolecimab	treatment	3	completed