Disease · MONDO_0018328
homozygous familial hypercholesterolemia
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. homozygous familial hypercholesterolemia. Diseases, record MONDO_0018328. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018328
On this page
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.
Drugs10
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 |
|---|---|---|---|---|---|---|---|---|
| EVINACUMAB | CHEMBL3545191 | Antibody | Approval | FDA | 3 | 2 | 2 | Drugs and targets |
| EVOLOCUMAB | CHEMBL2364655 | Antibody | Approval | TTD | 3 | 2 | 2 | Drugs and targets |
| ZODASIRAN | CHEMBL5314648 | Oligonucleotide | Phase 3 | ClinicalTrials.gov | 4 | 3 | 3 | Drugs and targets |
| LOMITAPIDE | CHEMBL354541 | Small molecule | Phase 3 | ClinicalTrials.gov | 3 | 3 | 3 | Drugs and targets |
| ALIROCUMAB | CHEMBL2109540 | Antibody | Phase 3 | ClinicalTrials.gov | 2 | 2 | 2 | Drugs and targets |
| EZETIMIBE | CHEMBL1138 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| INCLISIRAN | CHEMBL3990033 | Oligonucleotide | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| ROSUVASTATIN | CHEMBL1496 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| AEM-28 | CHEMBL5314976 | Phase 1/2 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets | |
| ZODASIRAN SODIUM | CHEMBL6068444 | Oligonucleotide | Unknown | USAN | 1 | 0 | 0 | Drugs and targets |
Targets6
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 |
|---|---|---|---|---|---|---|
| PCSK9 | PCSK9 mRNA | 3 | PCSK9 mRNA RNAi inhibitor; Subtilisin/kexin type 9 inhibitor | Approval | https://conductscience.org/library/genes/255738 | Drugs and targets |
| ANGPTL3 | Angiopoietin-related protein 3 | 1 | Angiopoietin-related protein 3 inhibitor | Approval | https://conductscience.org/library/genes/27329 | Drugs and targets |
| HMGCR | 3-hydroxy-3-methylglutaryl-coenzyme A reductase | 1 | HMG-CoA reductase inhibitor | Phase 3 | https://conductscience.org/library/genes/3156 | Drugs and targets |
| MTTP | Microsomal triglyceride transfer protein | 1 | Microsomal triglyceride transfer protein inhibitor | Phase 3 | https://conductscience.org/library/genes/4547 | Drugs and targets |
| NPC1L1 | NPC1-like intracellular cholesterol transporter 1 | 1 | Niemann-Pick C1-like protein 1 inhibitor | Phase 3 | https://conductscience.org/library/genes/29881 | Drugs and targets |
| P4HB | Microsomal triglyceride transfer protein | 1 | Microsomal triglyceride transfer protein inhibitor | Phase 3 | https://conductscience.org/library/genes/5034 | Drugs and targets |
Trials16
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.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT01624142 | Trial Assessing Long Term USe of PCSK9 Inhibition in Subjects With Genetic LDL Disorders | Phase 2/3 | 300 | 2019-01-28 | Severe Familial Hypercholesterolemia | EVOLOCUMAB | Its record names the disease | ClinicalTrials.gov |
| NCT03156621 | Study in Participants With Homozygous Familial Hypercholesterolemia (HoFH) | Phase 3 | 69 | 2021-06-29 | Homozygous Familial Hypercholesterolemia | ALIROCUMAB | Its record names the disease | ClinicalTrials.gov |
| NCT03399786 | Efficacy and Safety of Evinacumab in Patients With Homozygous Familial Hypercholesterolemia | Phase 3 | 65 | 2021-05-18 | Homozygous Familial Hypercholesterolemia | EVINACUMAB | Its record names the disease | ClinicalTrials.gov |
| NCT01588496 | Trial Evaluating PCSK9 Antibody in Subjects With LDL Receptor Abnormalities | Phase 2/3 | 58 | 2015-10-02 | Homozygous Familial Hypercholesterolemia | EVOLOCUMAB | Its record names the disease | ClinicalTrials.gov |
| NCT02100839 | Safety Study of AEM-28 to Treat Refractory Hypercholesterolemia | Phase 1/2 | 52 | 2015-12-29 | Hypercholesterolemia, Hyperlipoproteinemia Type II | AEM-28 | Its record names the disease | ClinicalTrials.gov |
| NCT02226198 | A Study to Evaluate the Efficacy and Safety of Rosuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia | Phase 3 | 20 | 2016-07-04 | Homozygous Familial Hypercholesterolemia (HoFH) | ROSUVASTATIN | Its record names the disease | ClinicalTrials.gov |
| NCT04233918 | Evaluate the Efficacy and Safety of Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia | Phase 3 | 20 | 2023-06-07 | Homozygous Familial Hypercholesterolemia | EVINACUMAB | Its record names the disease | ClinicalTrials.gov |
| NCT03510715 | An Efficacy and Safety Study of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia | Phase 3 | 18 | 2020-12-29 | Hypercholesterolemia | ALIROCUMAB | Its record names the disease | ClinicalTrials.gov |
| NCT04659863 | Study to Evaluate Efficacy and Safety of Inclisiran in Adolescents With Homozygous Familial Hypercholesterolemia | Phase 3 | 13 | 2025-05-31 | Familial Hypercholesterolemia - Homozygous | INCLISIRAN | Its record names the disease | ClinicalTrials.gov |
| NCT02173158 | Efficacy and Safety of Lomitapide in Japanese Patients With HoFH on Concurrent Lipid-Lowering Therapy | Phase 3 | 9 | 2018-10-10 | Familial Hypercholesterolemia - Homozygous | LOMITAPIDE | Its record names the disease | ClinicalTrials.gov |
1 to 10 of 16
See all 16 trialsComparisons in its trials8
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 |
|---|---|---|---|---|---|
| Alirocumab 150 mg SC Q2W vs Placebo in DBTP: Number of Participants With Anti-Drug Antibodies (ADA) to REGN727 Over Time | 1 of 44 | 1 of 24 | 68 | NCT03156621 | Trial comparisons |
| AEM-28 vs Normal Saline: Number of Participants Who Incurred at Least One Treatment Emergent Event | 33 of 37 | 10 of 15 | 52 | NCT02100839 | Trial comparisons |
| AEM-28 vs Normal Saline: serious adverse events | 0 of 37 | 0 of 15 | 52 | NCT02100839 | Trial comparisons |
| Part A: Evinacumab 15mg/Kg IV vs Part B: Evinacumab 15mg/Kg IV Q4W: Part A and Part B: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) | 5 of 6 | 10 of 14 | 20 | NCT04233918 | Trial comparisons |
| Alirocumab 75 mg Q2W/up to 150 mg Q2W vs Alirocumab 150 mg Q2W: deaths from any cause | 1 of 9 | 0 of 9 | 18 | NCT03510715 | Trial comparisons |
| Alirocumab 75 mg Q2W/up to 150 mg Q2W vs Alirocumab 150 mg Q2W: serious adverse events | 1 of 9 | 0 of 9 | 18 | NCT03510715 | Trial comparisons |
| Efficacy Phase vs Safety Phase: deaths from any cause | 0 of 9 | 0 of 8 | 17 | NCT02173158 | Trial comparisons |
| Efficacy Phase vs Safety Phase: serious adverse events | 0 of 9 | 1 of 8 | 17 | NCT02173158 | Trial comparisons |
Papers from its trials17
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 |
|---|---|---|---|
| 42613196 | DERIVED | 1 | PubMed |
| 41422812 | DERIVED | 1 | PubMed |
| 40391436 | DERIVED | 1 | PubMed |
| 40169529 | DERIVED | 1 | PubMed |
| 38682459 | DERIVED | 1 | PubMed |
| 37860863 | DERIVED | 1 | PubMed |
| 36520008 | DERIVED | 1 | PubMed |
| 36325897 | DERIVED | 1 | PubMed |
| 35175352 | DERIVED | 1 | PubMed |
| 33990512 | DERIVED | 1 | PubMed |
1 to 10 of 17
See all 17 papers from its trialsData dates
The date of each source this release read.
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_0018328
GET https://conductscience.org/api/diseases/v1/MONDO_0018328/drugs