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Disease

Homozygous familial hypercholesterolemia

Late-stage therapeutic development

Also known as HoFH.

16
Clinical trials
12
Associated genes
2
Related proteins

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
  • 4 clinical trials expected to report results, the earliest in Q4 2026.
Upcoming Milestones
Clinical Milestones7View
Results expected 4
Recently completed 2
Other updates 1
Activity timeline7

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
16
All trials
5
Active
11
Late-stage
6
Completed
Late-stage studies

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 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

Phase 3 Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)

Phase 3 · Recruiting · Arrowhead Pharmaceuticals

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 Worldwide, Multicenter, Double-Blind, Randomized, Placebo-Controlled, 12-Week Study to Assess the Efficacy and Tolerability of Anacetrapib When Added to Ongoing Lipid-Lowering Therapy in Adult Patients With Homozygous Familial Hypercholesterolemia (HoFH)

Phase 3 · Terminated · 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
Recruiting

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

Phase 3 Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)

Phase 3 · Recruiting · Arrowhead Pharmaceuticals

A Multicenter, Dose-exploration, Open-label Phase II Study to Evaluate the Efficacy and Safety of EDP167 in Adult Patients With Homozygous Familial Hypercholesterolaemia

Phase 2 · Recruiting · Eddingpharm (Zhuhai) Co., Ltd.

A Phase 1 Open-label, Multicenter, First-in-human, Ascending Dose Trial Evaluating the Safety and Tolerability of a Lipid Nanoparticle Formulation of CRISPR-Guide RNA-Cas9 Nuclease (CTX310) for In Vivo Editing of the Angiopoietin-like 3 (ANGPTL3) Gene in Participants With Refractory Dyslipidemias

Phase 1 · Recruiting · CRISPR Therapeutics AG
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

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

Phase 3 · Completed · Daniel Gaudet

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

Phase 3 · Completed · LIB Therapeutics LLC

A Three-Part, Single-Arm, Open-Label Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia

Phase 3 · Completed · Regeneron Pharmaceuticals

Phase 2b/3 Study to Assess the Efficacy and Safety of IBI306 in Subjects With Homozygous Familial Hypercholesterolemia.

Phase 2/3 · Completed · Innovent Biologics (Suzhou) Co. Ltd.

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)

Phase 3 · Completed · Novartis Pharmaceuticals

Associated genes

12 matches

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

LDLRAP10.79LDLR0.76PCSK90.65ANGPTL30.48MTTP0.34CT45A100.08CT45A20.08CT45A30.08CT45A50.08CT45A60.08CT45A70.08CT45A80.08

Disease biology

2 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 PCSK90.65Angiopoietin-related protein 3via ANGPTL30.48

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

A rare inherited genetic disorder, one form of HYPERLIPOPROTEINEMIA TYPE II, characterized by high level of LOW-DENSITY LIPOPROTEIN (LDL) which if not treated could elevate the chance of heart attack at an early age.

Synonyms

HoFH

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.