Disease · MONDO_0005439

familial hypercholesterolemia

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. familial hypercholesterolemia. Diseases, record MONDO_0005439. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0005439

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Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: familial hypercholesterolemia; Open Targets
Open Targets ID: MONDO_0005439; Open Targets
Other names: familial hypercholesterolaemia, hyperlipoproteinemia type II; Open Targets
Disease Ontology: DOID:13810; Disease Ontology
NCI Thesaurus: C34704; NCI Thesaurus
Highest stage of its drugs: Approval, for 18 of its 43 drugs, from DailyMed, FDA, PMDA and TTD; Open Targets

Drugs43

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
EVOLOCUMAB	CHEMBL2364655	Antibody	Approval	DailyMed and PMDA	12	9	9	Drugs and targets
EZETIMIBE	CHEMBL1138	Small molecule	Approval	DailyMed	10	7	7	Drugs and targets
ALIROCUMAB	CHEMBL2109540	Antibody	Approval	DailyMed and TTD	8	6	6	Drugs and targets
INCLISIRAN	CHEMBL3990033	Oligonucleotide	Approval	TTD	7	6	6	Drugs and targets
MIPOMERSEN	CHEMBL2219536	Oligonucleotide	Approval	TTD	6	5	5	Drugs and targets
EVINACUMAB	CHEMBL3545191	Antibody	Approval	DailyMed	5	3	3	Drugs and targets
MIPOMERSEN SODIUM	CHEMBL502097	Oligonucleotide	Approval	DailyMed	4	3	3	Drugs and targets
SIMVASTATIN	CHEMBL1064	Small molecule	Approval	DailyMed	5	2	2	Drugs and targets
INCLISIRAN SODIUM	CHEMBL5095052	Oligonucleotide	Approval	FDA and PMDA	4	2	2	Drugs and targets
LOMITAPIDE MESYLATE	CHEMBL2105662	Small molecule	Approval	DailyMed and TTD	4	2	2	Drugs and targets

1 to 10 of 43

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Targets17

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
HMGCR	3-hydroxy-3-methylglutaryl-coenzyme A reductase	9	HMG-CoA reductase inhibitor	Approval	https://conductscience.org/library/genes/3156	Drugs and targets
PCSK9	PCSK9 mRNA	8	PCSK9 mRNA RNAi inhibitor; PCSK9 mRNA rnai inhibitor; Subtilisin/kexin type 9 inhibitor	Approval	https://conductscience.org/library/genes/255738	Drugs and targets
CETP	Cholesteryl ester transfer protein	3	Cholesteryl ester transfer protein inhibitor	Phase 3	https://conductscience.org/library/genes/1071	Drugs and targets
MTTP	Microsomal triglyceride transfer protein	3	Microsomal triglyceride transfer protein inhibitor	Approval	https://conductscience.org/library/genes/4547	Drugs and targets
P4HB	Microsomal triglyceride transfer protein	3	Microsomal triglyceride transfer protein inhibitor	Approval	https://conductscience.org/library/genes/5034	Drugs and targets
ANGPTL3	Angiopoietin like 3 (ANGPTL3) mRNA	2	Angiopoietin like 3 (ANGPTL3) mRNA antisense inhibitor; Angiopoietin-related protein 3 inhibitor	Approval	https://conductscience.org/library/genes/27329	Drugs and targets
APOB	Apo-B 100 mRNA	2	Apo-B 100 mRNA antisense inhibitor	Approval	https://conductscience.org/library/genes/338	Drugs and targets
THRB	Thyroid hormone receptor beta	2	Thyroid hormone receptor beta-1 agonist	Phase 3	https://conductscience.org/library/genes/7068	Drugs and targets
ACLY	ATP-citrate synthase	1	ATP-citrate synthase inhibitor	Approval	https://conductscience.org/library/genes/47	Drugs and targets
ASGR1	Asialoglycoprotein receptor 1	1	Asialoglycoprotein receptor 1 binding agent	Phase 2	https://conductscience.org/library/genes/432	Drugs and targets

1 to 10 of 17

See all 17 targets

Trials71

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 1 more is not shown, since the checks do not confirm it.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT03814187	Trial to Assess the Effect of Long Term Dosing of Inclisiran in Subjects With High CV Risk and Elevated LDL-C	Phase 3	3,275	2024-03-06	ASCVD, Elevated Cholesterol, Heterozygous Familial Hypercholesterolemia, Homozygous Familial Hypercholesterolemia	INCLISIRAN	Its record names the disease	ClinicalTrials.gov
NCT03694197	Long Term Safety Study of PRALUENT	Phase 4	1,389	2021-06-15	Heterozygous Familial Hypercholesterolemia, Non-familial Hypercholesterolemia	ALIROCUMAB	Open Targets' reading of its record	ClinicalTrials.gov
NCT02597127	Trial to Evaluate the Effect of ALN-PCSSC Treatment on Low Density Lipoprotein Cholesterol (LDL-C)	Phase 2	501	2019-05-17	Atherosclerotic Cardiovascular Disease, Familial Hypercholesterolemia, Diabetes	INCLISIRAN	Its record names the disease	ClinicalTrials.gov
NCT03397121	Trial to Evaluate the Effect of Inclisiran Treatment on Low Density Lipoprotein Cholesterol (LDL-C) in Subjects With Heterozygous Familial Hypercholesterolemia (HeFH)	Phase 3	482	2020-10-28	Heterozygous Familial Hypercholesterolemia, Elevated Cholesterol	INCLISIRAN SODIUM	Its record names the disease	ClinicalTrials.gov
NCT01968980	A 52 Week Study To Assess The Use Of Bococizumab (PF-04950615; RN316) In Subjects With Heterozygous Familial Hypercholesterolemia	Phase 3	370	2017-05-19	Heterozygous Familial Hypercholesterolemia	BOCOCIZUMAB	Its record names the disease	ClinicalTrials.gov
NCT01730040	Study of the Efficacy and Safety of Alirocumab (REGN727/SAR236553) in Combination With Other Lipid-modifying Treatment (LMT) (ODYSSEY OPTIONS I)	Phase 3	355	2015-08-31	Hypercholesterolemia	ALIROCUMAB, ATORVASTATIN, EZETIMIBE, ROSUVASTATIN	Its record names the disease	ClinicalTrials.gov
NCT05425745	Evaluate the Effect of Obicetrapib in Patients With HeFH on Top of Maximum Tolerated Lipid-Modifying Therapies.	Phase 3	354	2025-06-11	Dyslipidemias, High Cholesterol, Hypercholesterolemia, Familial Hypercholesterolemia, Lipid Metabolism Disorder, Metabolic Disease, Lipid Metabolism, Inborn Errors, Genetic Disease, Inborn, Hyperlipoproteinemias	OBICETRAPIB	Its record names the disease	ClinicalTrials.gov
NCT01078675	An Study to Evaluate Rosuvastatin in Children and Adolescents With Familial Hypercholesterolaemia	Phase 3	315	2015-02-02	Familial Hypercholesterolaemia	ROSUVASTATIN	Its record names the disease	ClinicalTrials.gov
NCT01475825	A Study of the Safety and Efficacy of Two Different Regimens of Mipomersen in Patients With Familial Hypercholesterolemia and Inadequately Controlled Low-Density Lipoprotein Cholesterol	Phase 3	309	2019-03-14	Hypercholesterolemia, Heterozygous Familial	MIPOMERSEN SODIUM	Its record names the disease	ClinicalTrials.gov
NCT01524289	Study to Assess the Tolerability and Efficacy of Anacetrapib (MK-0859) Co-Administered With Statin in Participants With Heterozygous Familial Hypercholesterolemia (MK-0859-020)	Phase 3	306	2019-08-28	Hyperlipoproteinemia Type II, Hypercholesterolemia, Familial	ANACETRAPIB	Its record names the disease	ClinicalTrials.gov

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Comparisons in its trials25

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Inclisiran vs Placebo: deaths from any cause	1 of 241	1 of 240	481	NCT03397121	Trial comparisons
Inclisiran vs Placebo: serious adverse events	18 of 241	33 of 240	481	NCT03397121	Trial comparisons
PF--04950615 vs Placebo: serious adverse events	24 of 185	22 of 185	370	NCT01968980	Trial comparisons
Obicetrapib 10 mg vs Placebo: deaths from any cause	3 of 234	2 of 118	352	NCT05425745	Trial comparisons
Obicetrapib 10 mg vs Placebo: serious adverse events	13 of 234	8 of 118	352	NCT05425745	Trial comparisons
Enlicitide Decanoate vs Placebo: Number of Participants With Adverse Events (AEs)	157 of 202	77 of 101	303	NCT05952869	Trial comparisons
Enlicitide Decanoate vs Placebo: deaths from any cause	1 of 202	0 of 101	303	NCT05952869	Trial comparisons
Enlicitide Decanoate vs Placebo: Number of Participants Who Discontinued Study Drug Due to an AE	4 of 202	3 of 101	303	NCT05952869	Trial comparisons
Enlicitide Decanoate vs Placebo: serious adverse events	9 of 202	4 of 101	303	NCT05952869	Trial comparisons
Alirocumab 75 mg/up to 150 mg vs Placebo: serious adverse events	10 of 167	7 of 81	248	NCT01709500	Trial comparisons

1 to 10 of 25

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Papers from its trials67

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
41206969	RESULT	1	PubMed
27618825	RESULT	1	PubMed
23060426	RESULT	1	PubMed
21518985	RESULT	1	PubMed
20008831	RESULT	1	PubMed
17215532	RESULT	1	PubMed
15389231	RESULT	1	PubMed
12034651	RESULT	1	PubMed
42054033	DERIVED	1	PubMed
41760952	DERIVED	1	PubMed

1 to 10 of 67

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Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0005439

GET https://conductscience.org/api/diseases/v1/MONDO_0005439/drugs?page=2

API reference For AI assistants