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homozygous familial hypercholesterolemia (HoFH) - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

homozygous familial hypercholesterolemia

MONDO:0018328

Also known as:HoFH

Find Clinical TrialsTrials

Overview

Treatments6 FDA approved

Clinical Trials16 registered · 9 recruiting

Diagnosis

Biomarker and diagnostic research for homozygous familial hypercholesterolemia has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

6 FDA-approved treatments are available for homozygous familial hypercholesterolemia, including kynamro (KYNAMRO, approved 2013), EVOLOCUMAB (REPATHA, approved 2021), and ALIROCUMAB (PRALUENT, approved 2015). An additional 12 compounds hold orphan drug designation.

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved

Prognosis

Estimated prevalence: 1-9 in 1,000,000 (Rare).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

16 clinical trials registered, 9 recruiting. Interventions under study include drug therapy, other interventions, and gene therapy. Pipeline includes 4 PHASE3, 3 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05682378](https://clinicaltrials.gov/study/NCT05682378)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:391665

GARD

Genetic and Rare Diseases Info Center

GARD:10416

Questions for Your Care Team

→What are the benefits and potential side effects of KYNAMRO for managing homozygous familial hypercholesterolemia?
→Are any of the 16 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
recombinant adeno-associated virus serotype 8 vector encoding human low-density lipoprotein receptor	recombinant adeno-associated virus serotype 8 vector encoding human low-density lipoprotein receptor	NGGT INC.	2025	—	Designated
mRNA encoding the cholesterol degrading platform (CDP) fusion protein	mRNA encoding the cholesterol degrading platform (CDP) fusion protein	Repair Biotechnologies, Inc.	2025	—	Designated
bempedoic acid	bempedoic acid	Esperion Therapeutics, Inc.	2021	—	Designated
Double stranded oligomer RNA interference-based liver targeted therapeutic directed against the ANGPTL3 gene	Double stranded oligomer RNA interference-based liver targeted therapeutic directed against the ANGPTL3 gene	Arrowhead Pharmaceuticals, Inc.	2019	—	Designated
inclisiran	inclisiran	Novartis Pharmaceuticals Corporation	2018	—	Designated
apolipoprotein E mimetic peptide (AEM-28(R)-14)	apolipoprotein E mimetic peptide (AEM-28(R)-14)	LipimetiX Development, LLC	2017	—	Designated
2-[4-[[(2R)-2-ethoxy-3-[4-(trifluoromethyl)phenoxy]propyl]thio]-2-methylphenoxy]acetic acid (1:1) lysine dihydrate	2-[4-[[(2R)-2-ethoxy-3-[4-(trifluoromethyl)phenoxy]propyl]thio]-2-methylphenoxy]acetic acid (1:1) lysine dihydrate	Gilead Sciences, Inc.	2015	—	Designated
gemcabene	gemcabene	MetaVia, Inc.	2014	—	Designated
Adeno-Associated Viral Vector Expressing Low-Density Lipoprotein Receptor	Adeno-Associated Viral Vector Expressing Low-Density Lipoprotein Receptor	ReGenX Biosciences LLC	2012	—	Designated
KYNAMRO	mipomersen	Kastle Therapeutics, LLC	2006	2020	Designated (drug approved for other indication)
Implitapide	Implitapide	Medical Research Laboratories International	2004	—	Withdrawn
Sodium dichloroacetate	Sodium dichloroacetate	Stacpoole, Peter W. M.D., Ph.D.	1990	—	Designated

Research Type	Count	% of Total
Patient case studies	44	29%
Research summaries	31	21%
Clinical study results	25	17%
Testing and diagnosis research	16	11%
Disease patterns and progression	16	11%
New treatment approaches	10	7%
Laboratory research	8	5%
Other research	1	1%

Kisho

homozygous familial hypercholesterolemia

Overview

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Orphan Drug Designations

Clinical Trials

Recent Publications

Latest News & Developments

Complex cardiac and porcelain aorta surgery in patients with untreated familial hypercholesterolaemia: a case report.

Clinical Benefits Associated With Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia.

Newborn Screening for Familial Hypercholesterolemia Using LC-MS/MS-Based Free Cholesterol Measurements.

homozygous familial hypercholesterolemia

Overview

Diagnosis

Treatment

Approved Therapies

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Orphan Drug Designations

Clinical Trials

Recent Publications

Latest News & Developments

Complex cardiac and porcelain aorta surgery in patients with untreated familial hypercholesterolaemia: a case report.

Clinical Benefits Associated With Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia.

Newborn Screening for Familial Hypercholesterolemia Using LC-MS/MS-Based Free Cholesterol Measurements.