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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
Latest activity
beta

Recent clinical, regulatory, research and industry developments relating to this disease.

What's happening now

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

Executive briefingUpdating summary…Momentum: Low
Key developments
  • 3 clinical trials expected to report results, the earliest in Q2 2027.
Upcoming Milestones
Clinical Milestones7View
Results expected 3
Recently completed 3
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 · Active, not 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

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.