Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for homozygous familial hypercholesterolemia is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This scarcity has hindered extensive clinical studies and systematic documentation. Additionally, the lack of identified genetic markers and established inheritance patterns contributes to the challenges in understanding the condition fully. Despite these limitations, ongoing research may provide new insights.
To navigate your care for homozygous familial hypercholesterolemia, consider consulting a cardiologist with expertise in lipid disorders or a metabolic specialist familiar with rare cholesterol conditions. Additionally, you can explore clinical trials as potential treatment options. The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases; visit rarediseases.org for more information. Participating in research studies may also provide access to cutting-edge therapies and contribute to the understanding of this condition.
There are currently 13 active clinical trials investigating various treatments for homozygous familial hypercholesterolemia. Notable FDA-approved orphan drugs include alirocumab, evinacumab-dgnb, evolocumab, lomitapide, and mipomersen. Additionally, there are several drugs in development, such as bempedoic acid and inclisiran. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=homozygous%20familial%20hypercholesterolemia.
Actionable guidance for navigating care for homozygous familial hypercholesterolemia
To navigate your care for homozygous familial hypercholesterolemia, consider consulting a cardiologist with expertise in lipid disorders or a metabolic specialist familiar with rare cholesterol conditions. Additionally, you can explore clinical trials as potential treatment options. The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases; visit rarediseases.org for more information. Participating in research studies may also provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for homozygous familial hypercholesterolemia is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This scarcity has hindered extensive clinical studies and systematic documentation. Additionally, the lack of identified genetic markers and established inheritance patterns contributes to the challenges in understanding the condition fully. Despite these limitations, ongoing research may provide new insights.
To navigate your care for homozygous familial hypercholesterolemia, consider consulting a cardiologist with expertise in lipid disorders or a metabolic specialist familiar with rare cholesterol conditions. Additionally, you can explore clinical trials as potential treatment options. The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases; visit rarediseases.org for more information. Participating in research studies may also provide access to cutting-edge therapies and contribute to the understanding of this condition.
There are currently 13 active clinical trials investigating various treatments for homozygous familial hypercholesterolemia. Notable FDA-approved orphan drugs include alirocumab, evinacumab-dgnb, evolocumab, lomitapide, and mipomersen. Additionally, there are several drugs in development, such as bempedoic acid and inclisiran. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=homozygous%20familial%20hypercholesterolemia.
Actionable guidance for navigating care for homozygous familial hypercholesterolemia
To navigate your care for homozygous familial hypercholesterolemia, consider consulting a cardiologist with expertise in lipid disorders or a metabolic specialist familiar with rare cholesterol conditions. Additionally, you can explore clinical trials as potential treatment options. The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases; visit rarediseases.org for more information. Participating in research studies may also provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for homozygous familial hypercholesterolemia is limited primarily due to its extreme rarity, affecting fewer than 10 individuals per million. This scarcity has hindered extensive clinical studies and systematic documentation. Additionally, the lack of identified genetic markers and established inheritance patterns contributes to the challenges in understanding the condition fully. Despite these limitations, ongoing research may provide new insights.
To navigate your care for homozygous familial hypercholesterolemia, consider consulting a cardiologist with expertise in lipid disorders or a metabolic specialist familiar with rare cholesterol conditions. Additionally, you can explore clinical trials as potential treatment options. The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases; visit rarediseases.org for more information. Participating in research studies may also provide access to cutting-edge therapies and contribute to the understanding of this condition.
There are currently 13 active clinical trials investigating various treatments for homozygous familial hypercholesterolemia. Notable FDA-approved orphan drugs include alirocumab, evinacumab-dgnb, evolocumab, lomitapide, and mipomersen. Additionally, there are several drugs in development, such as bempedoic acid and inclisiran. For more information on ongoing trials, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=homozygous%20familial%20hypercholesterolemia.
Actionable guidance for navigating care for homozygous familial hypercholesterolemia
To navigate your care for homozygous familial hypercholesterolemia, consider consulting a cardiologist with expertise in lipid disorders or a metabolic specialist familiar with rare cholesterol conditions. Additionally, you can explore clinical trials as potential treatment options. The National Organization for Rare Disorders (NORD) provides resources and support for individuals with rare diseases; visit rarediseases.org for more information. Participating in research studies may also provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease
Amgen Inc
Other
Arrowhead Pharmaceuticals, Inc.
Other
Chiesi Farmaceutici S.p.A.
Other
Esperion Therapeutics, Inc.
Other
Gilead Sciences, Inc.
Other
Kastle Therapeutics, LLC
Other
LipimetiX Development, LLC
Other
Medical Research Laboratories International
Other
MetaVia, Inc.
Other
NGGT INC.
Other
Novartis Pharmaceuticals Corporation
Other
ReGenX Biosciences LLC
Other
Regeneron Pharmaceuticals, Inc.
Other
Repair Biotechnologies, Inc.
Other
Stacpoole, Peter W. M.D., Ph.D.
Other