C
Homozygous familial hypercholesterolemia
Genetic & Family HistoryGenetic / heritablerisknon modifiable
16
evidence score
Also known as: homozygous familial hypercholesterolaemia, homozygous familial hypercholesterolaemia (HoFH)
PREVENT status
Not a PREVENT input variable.
Causal support
trial evidence
Score components
lit volume: 4.8meta-analyses: 0trials: 11.4genetic: 0MR bonus:
References (2)
0 meta-analyses / systematic reviews- Fasting is not routinely required for determination of a lipid profile: clinical and laboratory implications including flagging at desirable concentration cut-points-a joint consensus statement from the European Atherosclerosis Society and European Federation of Clinical Chemistry and Laboratory Medicine. — European heart journal 2016 · PMID 27122601
- Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society. — European heart journal 2014 · PMID 25053660
Clinical trials (13)
| NCT | Title | Status | Type | Interventions |
|---|---|---|---|---|
| NCT06597006 | Two 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-cholesterol | RECRUITING | INTERVENTIONAL | Inclisiran, Placebo |
| NCT06125847 | A Clinical Study for the Safety and Efficacy of Intravenous Infusion of NGGT006 in Treatment of Homozygous Familial Hypercholesterolemia With LDLR Mutations | RECRUITING | INTERVENTIONAL | NGGT006 |
| NCT04034485 | Randomized, 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 Therapy | COMPLETED | INTERVENTIONAL | lerodalcibep, evolocumab |
| NCT03933293 | A Phase 2 Study to Evaluate the Safety and Efficacy of PCSK9 Inhibitor AK102 in Patients With Homozygous Familial Hypercholesterolemia (HoFH) | COMPLETED | INTERVENTIONAL | AK102, Statins, Ezetimibe |
| NCT03814187 | An 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-C | COMPLETED | INTERVENTIONAL | Inclisiran Sodium |
| NCT03851705 | A 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) | COMPLETED | INTERVENTIONAL | Inclisiran Sodium for injection, Placebo, Placebos |
| NCT03510715 | An Open-Label Study to Evaluate the Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia | COMPLETED | INTERVENTIONAL | Alirocumab SAR236553 (REGN727), Atorvastatin, Simvastatin |
| NCT03403374 | A Multicenter, Open-label, Single-arm, Study to Evaluate Safety and Tolerability of Repatha in Patients With Homozygous Familial Hypercholesterolemia (HoFH) in India | COMPLETED | INTERVENTIONAL | evolocumab |
| NCT03156621 | A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of Alirocumab in Patients With Homozygous Familial Hypercholesterolemia | COMPLETED | INTERVENTIONAL | Alirocumab, Placebo |
| NCT02963311 | An Open-Label, Single-Arm, Multicenter Pilot Study to Evaluate Safety, Tolerability, and Efficacy of ALN-PCSSC in Subjects With Homozygous Familial Hypercholesterolemia (HoFH) | COMPLETED | INTERVENTIONAL | ALN-PCSSC, Standard of Care |
| NCT04722068 | A 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 Trial | COMPLETED | INTERVENTIONAL | Kinetics test |
| NCT02624869 | Open-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) | COMPLETED | INTERVENTIONAL | Evolocumab |
| NCT04080050 | A Long-term Follow-up Study to Evaluate the Safety and Efficacy of RGX-501 | UNKNOWN | OBSERVATIONAL | Single intravenous (IV) dose of human Low Density Lipoprotein Receptor (LDLR) Gene Therapy |
Genetic associations (0)
None linked.