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Disease

Familial hypercholesterolemia

Late-stage therapeutic development
Also known as Fredrickson type IIa hyperlipoproteinemia, Fredrickson type IIa lipidaemia, familial hyperbetalipoproteinaemia, familial hypercholesteremia+3 more

Fredrickson type IIa hyperlipoproteinemia, Fredrickson type IIa lipidaemia, familial hyperbetalipoproteinaemia, familial hypercholesteremia, hyperbetalipoproteinemia, hyperlipoproteinemia type II, type II hyperlipidemia.

20
Clinical trials
12
Associated genes
6
Related proteins
Current focus
Apolipoprotein e biologyAtp-citrate synthase biologyTherapeutic developmentGenetics & risk factorsMetabolic & lifestyle factors

What's happening now

An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

Executive briefingUpdating summary…Momentum: Moderate
Key developments
  • 5 clinical trials expected to report results, the earliest in Q4 2027.
Upcoming Milestones
Clinical Milestones11View all 11
Results posted 3
Results expected 5
Recently completed 2
Other updates 1
+3 more in the activity timeline below
Activity timeline11

Clinical trials

13 sponsors · 1 new · 1 completed in the last 12 months (net +0)

The current development programme across all trial phases.

Clinical programme
20
All trials
6
Active
17
Late-stage
6
Completed
Late-stage studies

An Operationally Seamless Phase 2/3 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Enlicitide Decanoate in Pediatric Participants With Heterozygous Familial Hypercholesterolemia

Phase 2/3 · Recruiting · Merck Sharp & Dohme LLC

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

Phase 3 · Recruiting · Novartis Pharmaceuticals

An Open-label, Single Arm, Multicenter Extension Study to Evaluate Long-term Safety and Tolerability of Inclisiran in Participants With Heterozygous or Homozygous Familial Hypercholesterolemia Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20 or ORION-19 Studies (VICTORION-PEDS-OLE)

Phase 3 · Recruiting · Novartis Pharmaceuticals

A Phase Ⅲ Randomized, Parallel-group, Placebo-controlled Trial to Assess the Efficacy, Safety of the SYH2053 Subcutaneous Injection as Monotherapy in Participants With Primary Hypercholesterolemia (Non-familial) or Mixed Dyslipidemia

Phase 3 · Recruiting · CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd.

A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of VSA003 Injection in Chinese Adolescents and Adults With Homozygous Familial Hypercholesterolaemia (HoFH)

Phase 3 · Active, not recruiting · Visirna Therapeutics HK Limited

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 (6 to Less Than 12 Years) With Heterozygous Familial Hypercholesterolemia and Elevated LDL- Cholesterol

Phase 3 · Recruiting · Novartis Pharmaceuticals
Recruiting

An Operationally Seamless Phase 2/3 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Enlicitide Decanoate in Pediatric Participants With Heterozygous Familial Hypercholesterolemia

Phase 2/3 · Recruiting · Merck Sharp & Dohme LLC

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

Phase 3 · Recruiting · Novartis Pharmaceuticals

An Open-label, Single Arm, Multicenter Extension Study to Evaluate Long-term Safety and Tolerability of Inclisiran in Participants With Heterozygous or Homozygous Familial Hypercholesterolemia Who Have Completed the Pediatric ORION-16, ORION-13, ORION-20 or ORION-19 Studies (VICTORION-PEDS-OLE)

Phase 3 · Recruiting · Novartis Pharmaceuticals

A Phase Ⅲ Randomized, Parallel-group, Placebo-controlled Trial to Assess the Efficacy, Safety of the SYH2053 Subcutaneous Injection as Monotherapy in Participants With Primary Hypercholesterolemia (Non-familial) or Mixed Dyslipidemia

Phase 3 · Recruiting · CSPC Zhongnuo Pharmaceutical (Shijiazhuang) Co., Ltd.

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 (6 to Less Than 12 Years) With Heterozygous Familial Hypercholesterolemia and Elevated LDL- Cholesterol

Phase 3 · Recruiting · Novartis Pharmaceuticals
Recently completed

A Multicenter, Randomized, Double-blind, Placebo-controlled Phase III Clinical Study Evaluating the Efficacy and Safety of SHR-1918 in Patients With Homozygous Familial Hypercholesterolemia

Phase 3 · Completed · Beijing Suncadia Pharmaceuticals Co., Ltd

A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-0616 in Adults With Heterozygous Familial Hypercholesterolemia.

Phase 3 · Completed · Merck Sharp & Dohme LLC

Safety and Effectiveness of Evinacumab for the Treatment of Homozygous Familial Hypercholesterolemia in a Real Life Setting in Canada

Phase 3 · Completed · Daniel Gaudet

A Placebo-Controlled, Double-Blind, Randomized, Phase 3 Study to Evaluate the Effect of Obicetrapib 10 mg and Ezetimibe 10 mg Fixed Dose Combination Daily on Top of Maximally Tolerated Lipid-Modifying Therapy in Participants With Heterozygous Familial Hypercholesterolemia (HeFH) and/or Atherosclerotic Cardiovascular Disease (ASCVD) or Multiple ASCVD Risk Factors

Phase 3 · Completed · NewAmsterdam Pharma

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 Adolescents (12 to Less Than 18 Years) With Heterozygous Familial Hypercholesterolemia and Elevated LDL-cholesterol (ORION-16)

Phase 3 · Completed · Novartis Pharmaceuticals

Randomized, 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 Reduction

Phase 3 · Completed · LIB Therapeutics LLC

Associated genes

12 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

PCSK90.85LDLR0.81APOB0.78HMGCR0.70LDLRAP10.67APOE0.64NPC1L10.63ACLY0.53MTTP0.53ANGPTL30.52P4HB0.52DHPS0.46

Disease biology

6 matches

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Proprotein convertase subtilisin/kexin type 9via PCSK90.853-hydroxy-3-methylglutaryl-coenzyme A reductasevia HMGCR0.70Apolipoprotein Evia APOE0.64NPC1-like intracellular cholesterol transporter 1via NPC1L10.63ATP-citrate synthasevia ACLY0.53Angiopoietin-related protein 3via ANGPTL30.52

Reference

Authoritative identity, definition & identifiers.

Synonyms

Fredrickson type IIa hyperlipoproteinemia, Fredrickson type IIa lipidaemia, familial hyperbetalipoproteinaemia, familial hypercholesteremia, hyperbetalipoproteinemia, hyperlipoproteinemia type II, type II hyperlipidemia

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.