ホモ接合体性家族性高コレステロール血症 - 市場考察、疫学、市場予測（2032年）

主なハイライト

• ホモ接合体性家族性高コレステロール血症の市場規模は、主要7市場の中で米国がもっとも大きく、2022年に約8,337万米ドルを占めました。2032年までに成長が予測されています。
• 新たな治療薬であるLEQVIO（inclisiran）、lerodalcibep（LIB003）、ARO-ANG3は、ホモ接合体性家族性高コレステロール血症の市場規模にプラスの変化をもたらす可能性があります。

ホモ接合体性家族性高コレステロール血症市場の見通し

• 主要7市場のホモ接合体性家族性高コレステロール血症の総市場規模は、2022年までに約1億823万米ドルであり、予測期間中（2023年～2032年）に拡大すると予測されています。
• 主要7市場の中で米国が最大の市場シェアを占めました。疾患に対する認知度の向上、現在承認されている治療法の成長、新興治療法の上市により、調査期間中にCAGRで8.5％の成長が予測されています。
• 欧州4ヶ国・英国の中で、2022年のホモ接合体性家族性高コレステロール血症の市場規模はドイツが最大で、英国が続き、スペインは最下位でした。
• 日本は、主要7市場の中で2番目に大きな市場を占め、2022年の売上は約673万米ドルでしたが、予測期間中に変化する見込みです。

当レポートでは、ホモ接合体性家族性高コレステロール血症の主要7市場について調査分析し、市場規模と予測、現在の治療法と新薬の情報などを提供しています。

目次

第1章 主要考察

第2章 レポートのイントロダクション

第3章 ホモ接合体性家族性高コレステロール血症市場の概要

• ホモ接合体性家族性高コレステロール血症の市場シェア分布（2019年）
• ホモ接合体性家族性高コレステロール血症の市場シェア分布（2032年）

第4章 ホモ接合体性家族性高コレステロール血症の疫学と市場の調査手法

第5章 ホモ接合体性家族性高コレステロール血症のエグゼクティブサマリー

第6章 主な出来事

第7章 疾患の背景と概要

• ホモ接合体性家族性高コレステロール血症のイントロダクション
• 兆候と症状
• 危険因子
• 診断
• 治療

第8章 ペイシェントジャーニー

第9章 疫学と患者数

• 主な調査結果
• 前提条件と根拠：主要7市場
  • ホモ接合体性家族性高コレステロール血症と診断症例
  • ホモ接合体性家族性高コレステロール血症の診断症例：変異別
• 主要7市場のホモ接合体性家族性高コレステロール血症の診断症例の総数
• 米国
  • 米国のホモ接合体性家族性高コレステロール血症の診断症例の総数
  • 米国のホモ接合体性家族性高コレステロール血症の症例：変異別
• 欧州4ヶ国・英国
  • 欧州4ヶ国・英国のホモ接合体性家族性高コレステロール血症の診断症例の総数
  • 欧州4ヶ国・英国のホモ接合体性家族性高コレステロール血症の症例：変異別
• 日本
  • 日本のホモ接合体性家族性高コレステロール血症の診断症例の総数
  • 日本のホモ接合体性家族性高コレステロール血症の症例：変異別

第10章 上市済み薬品

• 主な競合
• EVKEEZA (evinacumab): Regeneron/Ultragenyx
• JUXTAPID/LOJUXTA (lomitapide): Chiesi Farmaceutici/Recordati
• PRALUENT (alirocumab): Regeneron/Sanofi
• REPATHA (evolocumab): Amgen
• ATORVALIQ (atorvastatin): CMP Pharma

第11章 新薬

• 主な競合
• ARO-ANG3: Arrowhead Pharmaceuticals
• LEQVIO (inclisiran/KJX839): Novartis/Alnylam Pharmaceuticals
• Lerodalcibep (LIB003): LIB Therapeutics

第12章 ホモ接合体性家族性高コレステロール血症：市場の分析

• 主な調査結果
• 主な市場予測の前提条件
• 市場見通し
• コンジョイント分析
• 主要7市場のホモ接合体性家族性高コレステロール血症の総市場規模
• 主要7市場のホモ接合体性家族性高コレステロール血症の総市場規模：治療法別
• 米国のホモ接合体性家族性高コレステロール血症の市場規模
  • 米国のホモ接合体性家族性高コレステロール血症の総市場規模
  • 米国のホモ接合体性家族性高コレステロール血症の市場規模：治療法別
• 欧州4ヶ国・英国のホモ接合体性家族性高コレステロール血症の市場規模
  • 欧州4ヶ国・英国のホモ接合体性家族性高コレステロール血症の総市場規模
  • 欧州4ヶ国・英国のホモ接合体性家族性高コレステロール血症の市場規模：治療法別
• 日本のホモ接合体性家族性高コレステロール血症の市場規模
  • 日本のホモ接合体性家族性高コレステロール血症の総市場規模
  • 日本のホモ接合体性家族性高コレステロール血症の市場規模：治療法別

第13章 キーオピニオンリーダーの見解

第14章 SWOT分析

第15章 アンメットニーズ

第16章 市場参入と償還

• 米国
• 欧州4ヶ国・英国
  • ドイツ
  • フランス
  • イタリア
  • スペイン
  • 英国
• 日本

第17章 付録

第18章 DelveInsightのサービス内容

第19章 免責事項

第20章 DelveInsightについて

List of Tables

• Table 1: Summary of Market and Epidemiology (2019-2032)
• Table 2: Key Events for Homozygous Familial Hypercholesterolemia
• Table 3: Criteria for the Diagnosis of Homozygous Familial Hypercholesterolemia
• Table 4: Simon Broome Diagnosis for Familial Hypercholesterolemia
• Table 5: Dutch Lipid Clinic Network Diagnostic Criteria for Familial Hypercholesterolemia
• Table 6: Summary of EAS Consensus Panel Recommendations
• Table 7: Case Finding and Diagnosis as per NICE
• Table 8: Diagnostic Criteria for Homozygous Familial Hypercholesterolemia in Adults (15 years of age or older)
• Table 9: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in the 7MM (2019-2032)
• Table 10: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in the US (2019-2032)
• Table 11: Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in the US (2019-2032)
• Table 12: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in EU4 and the UK (2019-2032)
• Table 13: Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in EU4 and the UK (2019-2032)
• Table 14: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in Japan (2019-2032)
• Table 15: Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in Japan (2019-2032)
• Table 16: Comparison of Marketed Drugs
• Table 17: EVKEEZA (evinacumab), Clinical Trial Description, 2023
• Table 18: JUXTAPID/LOJUXTA (lomitapide)
• Table 19: PRALUENT (alirocumab), Clinical Trial Description, 2023
• Table 20: REPATHA (evolocumab), Clinical Trial Description, 2023
• Table 21: Comparison of Emerging Drugs
• Table 22: ARO-ANG3, Clinical Trial Description, 2023
• Table 23: LEQVIO (inclisiran/KJX839), Clinical Trial Description, 2023
• Table 24: Lerodalcibep (LIB003), Clinical Trial Description, 2023
• Table 25: Key Market Forecast Assumptions for ARO-ANG3
• Table 26: Key Market Forecast Assumptions for LEQVIO (inclisiran/KJX839)
• Table 27: Key Market Forecast Assumptions for Lerodalcibep (LIB003)
• Table 28: Total Market Size of Homozygous Familial Hypercholesterolemia in the 7MM, in USD million (2019-2032)
• Table 29: Total Market Size of Homozygous Familial Hypercholesterolemia by Therapies in the 7MM, in USD million (2019-2032)
• Table 30: Total Market Size of Homozygous Familial Hypercholesterolemia in the US, in USD million (2019-2032)
• Table 31: The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in the US, in USD million (2019-2032)
• Table 32: Total Market Size of Homozygous Familial Hypercholesterolemia in EU4 and the UK, in USD million (2019-2032)
• Table 33: The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in EU4 and the UK, in USD million (2019-2032)
• Table 34: Total Market Size of Homozygous Familial Hypercholesterolemia in Japan, in USD million (2019-2032)
• Table 35: The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in Japan, in USD million (2019-2032)

List of Figures

• Figure 1: Symptoms of Homozygous Familial Hypercholesterolemia
• Figure 2: Risk Factors Associated With Homozygous Familial Hypercholesterolemia
• Figure 3: Genetic Testing For Familial Hypercholesterolemias
• Figure 4: Algorithm of Treatment of Pediatric Homozygous Familial Hypercholesterolemia
• Figure 5: Treatment Flow Chart for Adult (15 years or over) Homozygous Familial Hypercholesterolemia
• Figure 6: Patient Journey of Homozygous Familial Hypercholesterolemia
• Figure 7: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in the 7MM (2019-2032)
• Figure 8: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in the US (2019-2032)
• Figure 9: Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in the US (2019-2032)
• Figure 10: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in EU4 and the UK (2019-2032)
• Figure 11: Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in EU4 and the UK (2019-2032)
• Figure 12: Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in Japan (2019-2032)
• Figure 13: Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in Japan (2019-2032)
• Figure 14: Total Market Size of Homozygous Familial Hypercholesterolemia in the 7MM, in USD million (2019-2032)
• Figure 15: Total Market Size of Homozygous Familial Hypercholesterolemia by Therapies in the 7MM, in USD million (2019-2032)
• Figure 16: Total Market Size of Homozygous Familial Hypercholesterolemia in the US, in USD million (2019-2032)
• Figure 17: The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in the US, in USD million (2019-2032)
• Figure 18: Total Market Size of Homozygous Familial Hypercholesterolemia in EU4 and the UK, in USD million (2019-2032)
• Figure 19: The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in EU4 and the UK, in USD million (2019-2032)
• Figure 20: Total Market Size of Homozygous Familial Hypercholesterolemia in Japan, in USD million (2019-2032)
• Figure 21: The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in Japan, in USD million (2019-2032)
• Figure 22: SWOT Analysis of Homozygous Familial Hypercholesterolemia
• Figure 23: Unmet Needs of Homozygous Familial Hypercholesterolemia
• Figure 24: Health Technology Assessment
• Figure 25: Reimbursement Process in Germany
• Figure 26: Reimbursement Process in France
• Figure 27: Reimbursement Process in Italy
• Figure 28: Reimbursement Process in Spain
• Figure 29: Reimbursement Process in the United Kingdom
• Figure 30: Reimbursement Process in Japan

Key Highlights:

• The diagnosed prevalence of homozygous familial hypercholesterolemia has been increasing in the US due to increased population and awareness.
• Updated international diagnostic and clinical guidelines for FH and homozygous familial hypercholesterolemia enable evidence-based therapeutic approaches and screening strategies for early identification.
• The current treatment regimens focus on low-density lipoprotein (LDL)-lowering therapies, with statins being the mainstay. Statins such as simvastatin, rosuvastatin, and atorvastatin are frequently used.
• Non-pharmacological therapies, such as lifestyle modification, low-fat diet, and lipoprotein apheresis, manage low-density lipoprotein cholesterol (LDL-C) levels. A liver transplant is also recommended, as it replaces dysfunctional hepatic LDL receptors, resulting in near-normal lipoprotein metabolism.
• The improvements in disease understanding and pathogenesis have driven the development of novel therapies that are approved as adjuncts to statins and other lipid-lowering therapies as a subsequent line of therapies. These include PCSK9 inhibitors (alirocumab and evolocumab), MTP inhibitors (lomitapide), and ANGPTL3 inhibitors (evinacumab).
• The major concern in understanding the market for homozygous familial hypercholesterolemia is a lack of recent epidemiology and a paucity of evidence to validate interventions used in daily managing homozygous familial hypercholesterolemia.
• Limited access to gene testing and lack of cholesterol screening programs delays diagnosis, worsening the LDL-C levels and impacting homozygous familial hypercholesterolemia treatment and care.
• In 2022, the market size of homozygous familial hypercholesterolemia was highest in the US among the 7MM countries, accounting for approximately USD 83.37 million. It is expected to increase by 2032.
• Among the approved products, Regeneron/Ultragenyx's EVKEEZA (evinacumab), the first-in-class ANGPTL3 inhibitor for the treatment of children as young as 5 years to control dangerously high levels of LDL-C, was approved in 2021. It generated a revenue of USD 47 million in the US 2022, capturing nearly 56% of the total homozygous familial hypercholesterolemia market in the US.
• Despite the availability of statins and other lipid-lowering treatments, many high-risk patients remain vulnerable to major cardiovascular events.
• Advances in research have led to the discovery of novel molecules like siRNA and recombinant fusion protein that may offer effective options to lower LDL significantly.
• Emerging therapies LEQVIO (inclisiran), lerodalcibep (LIB003), and ARO-ANG3 can potentially create a positive shift in the market size of homozygous familial hypercholesterolemia.
• LEQVIO (inclisiran) is a small interfering RNA that blocks the translation of PCSK9 messenger RNA, leading to its degradation by the RNA-induced silencing complex, thus decreasing intrahepatic and plasma PCSK9 concentration.
• Arrowhead Pharmaceuticals' ARO-ANG3 is an ANGPTL3 inhibitor that reduces the expression and circulation levels of ANGPTL3, leading to the clearance of LDL-cholesterol, HDL-cholesterol, and triglycerides.
• Preclinical studies have yielded gene therapy and CRISPR-based gene editing approaches as having potential; conducting further research and clinical trials may offer curative therapy. Since the current therapies are insufficient for cholesterol-lowering, pharma players can bring newer and more potent LDL-C lowering therapies to prevent atherosclerotic cardiovascular disease in homozygous familial hypercholesterolemia patients.

DelveInsight's "Homozygous Familial Hypercholesterolemia - Market Insights, Epidemiology, and Market Forecast - 2032" report delivers an in-depth understanding of the homozygous familial hypercholesterolemia historical and forecasted epidemiology as well as the market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The homozygous familial hypercholesterolemia market report provides current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted the 7MM homozygous familial hypercholesterolemia market size from 2019 to 2032. The report also covers current homozygous familial hypercholesterolemia treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market's potential.

Geography Covered:

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2019-2032

Homozygous Familial Hypercholesterolemia Understanding and Treatment Algorithm

Homozygous Familial Hypercholesterolemia Overview

Homozygous familial hypercholesterolemia is the most serious and rare form of familial hypercholesterolemia. It is a genetic disorder that affects lipid metabolism, leading to extremely high levels of LDL-C in the blood. It is inherited in an autosomal recessive pattern and caused by a genetic mutation that affects the function of the LDL receptor, which normally removes LDL cholesterol from the bloodstream. As a result, individuals with homozygous familial hypercholesterolemia cannot effectively clear LDL cholesterol from their blood, accumulating cholesterol in arteries and other tissues.

The LDLR gene encodes a receptor responsible for removing low-density lipoprotein (LDL) cholesterol from the bloodstream. In homozygous familial hypercholesterolemia, the mutations in both copies of LDLR severely impair the function of these receptors, resulting in extremely high levels of LDL cholesterol in the blood. Individuals have high cholesterol levels despite following a low-cholesterol diet and other lifestyle modifications.

The disease is characterized by plasma cholesterol levels higher than 13 mmol/L (>500 mg/dL), corneal arcus, xanthomas, xanthelasmas, and marked premature and progressive atherosclerotic cardiovascular disease. It is typically diagnosed early in life, and high LDL cholesterol levels increase the risk of cardiovascular complications such as heart attacks and strokes at a young age.

In the US, cholesterol levels are measured in milligrams (mg) of cholesterol per blood deciliter (dL). While in European countries, cholesterol levels are measured in millimoles per liter (mmol/L).

The disease, if untreated, can cause aggressive narrowing and blocking of the blood vessels even before birth, which progresses rapidly, triggering serious cardiac issues for patients much earlier in life than the general population. According to the National Institutes of Health (NIH), patients with homozygous familial hypercholesterolemia have three to six times higher LDL-C levels than normal.

Homozygous Familial Hypercholesterolemia Diagnosis

Diagnosing homozygous familial hypercholesterolemia involves clinical evaluation, family history, and laboratory tests that provide access to the extent of atherosclerosis and cardiovascular involvement.

While genetic testing may provide a definitive diagnosis of homozygous familial hypercholesterolemia, genetic confirmation remains elusive in some patients. It is diagnosed based on an untreated LDL-C plasma concentration >13 mmol/L (>500 mg/dL) or a treated LDL-C concentration of =8 mmol/L (=300 mg/dL) and the presence of cutaneous or tendon xanthomas before the age of 10 years.

Currently, diagnostic criteria developed by the European Atherosclerosis Society, National Institute for Health and Care Excellence, and Japan Atherosclerosis Society are widely used to diagnose homozygous familial hypercholesterolemia.

Further details related to country-based variations are provided in the report…

Homozygous Familial Hypercholesterolemia Treatment

Homozygous familial hypercholesterolemia is challenging to manage due to the severe elevation of LDL cholesterol levels and the increased risk of early-onset cardiovascular complications. Treatment for homozygous familial hypercholesterolemia typically involves a combination of lipid-lowering medications, lifestyle modifications, and in some cases, advanced interventions. Statins are the first-line pharmacological therapies for homozygous familial hypercholesterolemia that help reduce LDL cholesterol levels in the blood. Some statins were approved in the US, like LIPITOR (atorvastatin), CRESTOR (rosuvastatin), and ZOCOR (simvastatin), but now their generics are available. ATORVALIQ (atorvastatin) was approved in 2023 by the US FDA, but it is an oral suspension of the already approved atorvastatin.

Ezetimibe is another medication that inhibits cholesterol absorption from the intestine, leading to further reductions in LDL cholesterol levels and is the first-line lipid-lowering therapy recommended for homozygous familial hypercholesterolemia. Bile acid sequestrates are also recommended but are limited mostly due to poor tolerance and low efficacy.

In those with homozygous familial hypercholesterolemia, despite the first line of therapy, various therapies like PCSK9 Inhibitors (alirocumab and evolocumab), Anti-Apo-B Therapies (lomitapide and mipomersen), and ANGPTL3 Inhibitors (evinacumab) are recommended as adjuncts to the first-line of lipid-lowering therapies. Besides these interventions to lower LDL independent of LDL-receptor lipoprotein, apheresis, and liver transplantation are also recommended.

Homozygous Familial Hypercholesterolemia Epidemiology

As the market is derived using a patient-based model, the homozygous familial hypercholesterolemia epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by diagnosed prevalent cases of homozygous familial hypercholesterolemia and mutation-specific cases of homozygous familial hypercholesterolemia in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2019 to 2032.

• In 2022, the total diagnosed prevalent cases of homozygous familial hypercholesterolemia were estimated to be approximately 2,845 cases in the 7MM. These cases are projected to increase during the forecast period.
• In 2022, among the 7MM, the US accounted for the highest diagnosed prevalent cases of homozygous familial hypercholesterolemia, contributing nearly 47%, while Spain accounted for the least with nearly 4% of the total diagnosed prevalent cases.
• In the US, approximately 1,349 diagnosed prevalent cases of homozygous familial hypercholesterolemia in 2022. These cases are expected to increase by 2032.
• In 2022, Germany ranked first among EU4 and the UK, with approximately 281 diagnosed prevalent cases of homozygous familial hypercholesterolemia, followed by the UK and France with nearly 271 and 228 cases, respectively. The total cases in EU4 and the UK are expected to increase by 2032.
• In EU4 and the UK, among the mutation-specific cases of homozygous familial hypercholesterolemia, a mutation in the LDLR gene accounted for the highest number of cases (nearly 947 cases), while PCSK9 had the least cases in 2022. These mutation-specific cases are expected to increase by 2032.
• Among EU4 and the UK, Germany accounted for the highest LDLR mutation-specific homozygous familial hypercholesterolemia cases in 2022, followed by the UK, France, and others.
• In Japan, the mutation in the LDLR gene was the most common, reporting approximately 289 cases, while the APOB mutation was the least common, with around 12 cases in 2022.

Homozygous Familial Hypercholesterolemia Drug Chapters

The drug chapter segment of the homozygous familial hypercholesterolemia report encloses a detailed analysis of homozygous familial hypercholesterolemia, currently used drugs, and mid-stage (Phase II and Phase I) pipeline drugs. It also helps understand the homozygous familial hypercholesterolemia clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, advantages and disadvantages of each included drug, and the latest news and press releases.

Marketed Drugs

EVKEEZA (evinacumab): Regeneron/Ultragenyx

EVKEEZA (evinacumab) is a recombinant human monoclonal antibody used in treating adult and pediatric patients aged 5 years and older with homozygous familial hypercholesterolemia. It is a novel lipid-lowering therapy for homozygous familial hypercholesterolemia that binds and blocks the function of ANGPTL3, a protein that plays a key role in lipid metabolism. ANGPTL3 inhibits the breakdown of these triglyceride-rich lipoproteins (LDL and chylomicrons). By inhibiting ANGPTL3, EVKEEZA allows these lipoproteins to be degraded, ultimately reducing LDL, HDL, and triglycerides.

In February 2021, the US FDA approved EVKEEZA (evinacumab) as an adjunct to other LDL-C lowering therapies to treat adult and pediatric patients aged 12 years and older with homozygous familial hypercholesterolemia, while in March 2023, it extended the approval to treat homozygous familial hypercholesterolemia in children aged 5-11 years also. In 2021, the EMA also approved EVKEEZA as an adjunct for the treatment of adult and adolescent patients aged 12 years and older with homozygous familial hypercholesterolemia.

In January 2022, Ultragenyx collaborated with Regeneron to clinically develop, commercialize and distribute EVKEEZA (evinacumab) outside of the US.

Emerging Drugs

ARO-ANG3: Arrowhead Pharmaceuticals

ARO-ANG3 is an investigational, subcutaneously administrated, hepatocyte-targeted RNA interference (RNAi) therapeutic designed to specifically silence angiopoietin-like protein 3 (ANGPTL3) mRNA expression and mimic ANGPTL3 deficiency. Further, given the inhibitory role of ANGPTL3 in the metabolism of various lipoproteins and triglycerides, reduced expression and reduced circulating levels of ANGPTL3 may increase the clearance of LDL-cholesterol, HDL-cholesterol, and triglycerides. It is administrated subcutaneously and is being developed to treat dyslipidemia and metabolic diseases.

The drug is undergoing Phase II (GATEWAY) trial in patients with homozygous familial hypercholesterolemia already on stable, maximally tolerated lipid-lowering therapy, besides being developed for dyslipidemia and hypertriglyceridemia. Further, the company plans to meet with regulatory authorities in the second half of 2023 to discuss the proposed study design for the Phase III trial to investigate ARO-ANG3 in homozygous familial hypercholesterolemia.

Note: Detailed emerging therapies assessment will be provided in the final report.

Drug Class Insights

According to most guidelines, the treatment should start with conventional statin therapy, and depending on the response, combination therapy should be added and/or non-pharmacologic interventions considered. Statins and ezetimibe are still the first-line therapy for patients with homozygous familial hypercholesterolemia, although their mechanism of action is LDL-receptor dependent. In those with homozygous familial hypercholesterolemia, despite the first line of therapy, PCSK9 Inhibitors (alirocumab and evolocumab), Anti-Apo-B Therapies (lomitapide and mipomersen), ANGPTL3 Inhibitors (evinacumab) are recommended. Besides these interventions to lower LDL independent of LDL-receptor lipoprotein, apheresis, and liver transplantation are also recommended.

Statins reduce LDL-C by diminishing hepatic cholesterol synthesis, acting on the 3-hydroxy-3-methylglutaryl coenzyme-A (HMG-CoA)-reductase. This leads to the upregulation of hepatic LDLR expression and the increased uptake of circulating LDL particles with consequent higher biliary cholesterol excretion in the feces. Reductions in cholesterol synthesis result in less VLDL, a precursor of LDL. Statins reduce the hepatic output of cholesterol to peripheral arteries, hence decreasing cholesterol plaque buildup.

Homozygous Familial Hypercholesterolemia Market Outlook

Homozygous familial hypercholesterolemia is a rare, treatment-resistant genetic disorder that affects cholesterol metabolism and is characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Due to the severe elevation of LDL cholesterol levels, it is challenging to manage. There are at least four genes, including LDLR, APOB, PCSK9, and LDLRAP1, that cause homozygous familial hypercholesterolemia with phenotypic variation.

The prevention of early ASCVD in patients with homozygous familial hypercholesterolemia depends on early diagnosis and efficient LLT. On-treatment LDL-C levels are shown to be the best predictor of survival, and the sooner the onset of the treatment, the lower the cardiovascular consequences. However, due to absent or defective LDL-receptor activity, most individuals with homozygous familial hypercholesterolemia resist conventional therapies that lead to LDL-C clearance by upregulating LDL receptors. Statins and ezetimibe are still the first-line therapy for patients with homozygous familial hypercholesterolemia, although their mechanism of action is LDL-receptor dependent. In those with homozygous familial hypercholesterolemia, despite the first line of therapy, PCSK9 Inhibitors (alirocumab and evolocumab), Anti-Apo-B Therapies (lomitapide and mipomersen), ANGPTL3 Inhibitors (evinacumab) are recommended. Besides these interventions to lower LDL independent of LDL-receptor lipoprotein, apheresis, and liver transplantation are also recommended.

The current treatment regimens focus on LDL-lowering therapies, with statins being the mainstay. Statin therapy is a long-term preventive treatment of choice for individuals with homozygous familial hypercholesterolemia. Various statins were approved decades back; these include simvastatin, rosuvastatin, and atorvastatin, among others. Most of these approved statins market is awash with cheap generics. CMP Pharma's ATORVALIQ (atorvastatin) recently received approval from the US FDA for its oral suspension; however, the drug has been in the market for decades but in a different formulation. In those who persist with inadequate LDL-C concentrations, ezetimibe is prescribed as a second-line therapy for LDL-C lowering, as it reduces intestinal cholesterol absorption and increases fecal excretion. It usually adds 10-15% additional LDL-C reduction to isolated statin therapy.

Key players Arrowhead Pharmaceuticals' ARO-ANG3, LIB Therapeutics' Lerodalcibep (LIB003), and Novartis and Alnylam Pharmaceuticals' LEQVIO (inclisiran/KJX839) and others are evaluating their lead candidates in different stages of clinical development. They aim to investigate their products for the treatment of homozygous familial hypercholesterolemia.

• The total market size of homozygous familial hypercholesterolemia in the 7MM was approximately USD 108.23 million in 2022 and is projected to increase during the forecast period (2023-2032).
• According to DelveInsight's estimates, among the 7MM, the US had the largest market share for homozygous familial hypercholesterolemia, with a revenue of USD 83.37 million in 2022, and will increase at a CAGR of 8.5% during the study period due to increasing awareness of the disease, the growth of currently approved therapies and the launch of the emerging therapies.
• Among EU4 and the UK countries, Germany accounted for the maximum market size of homozygous familial hypercholesterolemia in 2022, followed by the UK, while Spain occupied the bottom of the ladder.
• Japan accounted for the second largest market of homozygous familial hypercholesterolemia among the 7MM, with a revenue of approximately USD 6.73 million in 2022, expected to change during the forecast period.
• The US FDA has approved various adjunct therapies with novel mechanisms of action, like PCSK9 inhibitors, ANGPTL3 inhibitors, and MTP inhibitors. These were approved for treating homozygous familial hypercholesterolemia in individuals despite using statins and other lipid-lowering agents. Among these, the MTP inhibitor class with one approved product JUXTAPID/LOJUXTA (lomitapide), occupied nearly 50% of the homozygous familial hypercholesterolemia market in the 7MM, which was highest among all therapies in the 7MM in 2022. EVKEEZA (evinacumab), an ANGPTL3 inhibitor followed by lomitapide, captured nearly 43% of the total 7MM market in 2022.
• Though the pipeline is limited, few therapies will enter the market in these already-approved classes during the forecast period. These include Arrowhead Pharmaceuticals' ARO-ANG3, LIB Therapeutics' Lerodalcibep (LIB003), and Novartis/Alnylam Pharmaceuticals' LEQVIO (inclisiran/KJX839).
• Arrowhead Pharmaceuticals' ARO-ANG3 is a novel subcutaneously administered RNA interference-based investigational medicine targeting ANGPTL3 inhibitor. It is projected to enter the US market by 2027, generating a revenue of USD 0.02 million in the same year.

Homozygous Familial Hypercholesterolemia Drugs Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during 2019-2032. For example, Arrowhead Pharmaceuticals' ARO-ANG3, an ANGPTL3 inhibitor, with an anticipated entry by 2027 in the US, is predicted to have a slow-medium uptake during the forecast period.

Further detailed analysis of emerging therapies drug uptake in the report…

Homozygous Familial Hypercholesterolemia Pipeline Development Activities

The report provides insights into therapeutic candidates in Phase II and Phase I. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for emerging therapies for homozygous familial hypercholesterolemia.

KOL Views

To keep up with current market trends, we take KOLs and SMEs' opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on the homozygous familial hypercholesterolemia evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake, along with challenges related to accessibility, including Medical/scientific writers, Medical Professionals, Professors, Directors, and Others.

DelveInsight's analysts connected with 50+ KOLs to gather insights; however, interviews were conducted with 15+ KOLs in the 7MM. Centers like Southern Illinois University School of Medicine, the University of Washington, the University Hospital of Tours, Navarra Institute for Health Research, the University of Tokyo School of Medicine, and the National Center of Neurology and Psychiatry were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or homozygous familial hypercholesterolemia market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Physician's View

According to our primary research analysis, lipid-lowering therapies are not being used enough despite approvals. High-dose statins were the highest of all the therapies recommended to treat homozygous familial hypercholesterolemia and were the treatment of choice for homozygous familial hypercholesterolemia, but very few patients achieved current LDL cholesterol recommendations with this approach. The use of three or more LLTs was associated with lower LDL cholesterol levels and a greater likelihood of goal achievement. There is a need to improve disease awareness and increase diagnosis and treatment, as most cases are not diagnosed or not treated properly.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Conjoint Analysis analyzes multiple emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy. To analyze the effectiveness of these therapies, we have calculated their attributed analysis by giving them scores based on the percentage change from baseline in LDL-C.

The therapies' safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed. It sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the route of administration, order of entry and designation, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement

Reimbursement of rare disease therapies can be limited due to lack of supporting policies and funding, challenges of high prices, lack of specific approaches to evaluating rare disease drugs given limited evidence, and payers' concerns about budget impact. The high cost of rare disease drugs usually has a limited effect on the budget due to the small number of eligible patients being prescribed the drug. The US FDA has approved several rare disease therapies in recent years. From a patient perspective, health insurance and payer coverage guidelines surrounding rare disease treatments restrict broad access to these treatments, leaving only a small number of patients who can bypass insurance and pay for products independently.

The report provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenarios, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the Report:

• The report covers a segment of key events, an executive summary, descriptive overview of homozygous familial hypercholesterolemia, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and treatment guidelines have been provided.
• Additionally, an all-inclusive account of the current and emerging therapies and the elaborative profiles of late-stage and prominent therapies will impact the current treatment landscape.
• A detailed review of the homozygous familial hypercholesterolemia market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends, through SWOT analysis, expert insights/KOL views, patient journey, and treatment preferences that help shape and drive the 7MM homozygous familial hypercholesterolemia market.

Homozygous Familial Hypercholesterolemia Report Insights

• Patient Population
• Therapeutic Approaches
• Homozygous Familial Hypercholesterolemia Pipeline Analysis
• Homozygous Familial Hypercholesterolemia Market Size and Trends
• Existing and Future Market Opportunity

Homozygous Familial Hypercholesterolemia Report Key Strengths

• 10 years Forecast
• The 7MM Coverage
• Homozygous Familial Hypercholesterolemia Epidemiology Segmentation
• Key Cross Competition
• Conjoint Analysis
• Drugs Uptake and Key Market Forecast Assumptions

Homozygous Familial Hypercholesterolemia Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

Key Questions

Market Insights

• What was the total market size of homozygous familial hypercholesterolemia, the market size of homozygous familial hypercholesterolemia by therapies, market share (%) distribution in 2019, and what would it look like by 2032? What are the contributing factors for this growth?
• How will ARO-ANG3 and LEQVIO (inclisiran/KJX839) affect the homozygous familial hypercholesterolemia treatment paradigm?
• How will EVKEEZA (evinacumab) compete with other off-label symptomatic treatments?
• Which drug is going to be the largest contributor by 2032?
• What are the pricing variations among different geographies for off-label therapies?
• How would future opportunities affect the market dynamics and subsequent analysis of the associated trends?

Epidemiology Insights

• What are the disease risk, burdens, and unmet needs of homozygous familial hypercholesterolemia? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to homozygous familial hypercholesterolemia?
• What is the historical and forecasted patient pool of homozygous familial hypercholesterolemia in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• Out of the countries mentioned above, which country would have the highest diagnosed prevalent homozygous familial hypercholesterolemia population during the forecast period (2023-2032)?
• What factors are contributing to the growth of homozygous familial hypercholesterolemia cases?

Current Treatment Scenario, Marketed Drugs, and Emerging Therapies

• What are the current options to treat homozygous familial hypercholesterolemia?
• How many companies are developing therapies for the treatment of homozygous familial hypercholesterolemia?
• How many emerging therapies are in the mid-stage and early stage of development for treating homozygous familial hypercholesterolemia?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitation of existing therapies?
• What is the cost burden of current treatment on the patient?
• Patient acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the accessibility issues of approved therapy in the US?
• What is the 7MM historical and forecasted market of homozygous familial hypercholesterolemia?

Reasons to Buy:

• The report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving the homozygous familial hypercholesterolemia market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• Understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• The distribution of historical and current patient share is based on real-world prescription data in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• To understand Key Opinion Leaders' perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet need of the existing market so that the upcoming players can strengthen their development and launch strategy

Table of Contents

1. Key Insights

2. Report Introduction

3. Homozygous Familial Hypercholesterolemia Market Overview at a Glance

• 3.1. Market Share (%) Distribution of Homozygous Familial Hypercholesterolemia in 2019
• 3.2. Market Share (%) Distribution of Homozygous Familial Hypercholesterolemia in 2032

4. Methodology of Homozygous Familial Hypercholesterolemia Epidemiology and Market

5. Executive Summary of Homozygous Familial Hypercholesterolemia

6. Key Events

7. Disease Background and Overview

• 7.1. Introduction to Homozygous Familial Hypercholesterolemia
• 7.2. Signs and Symptoms
• 7.3. Risk Factors
• 7.4. Diagnosis
  • 7.4.1. Genetic Testing Process as per the FH Foundation for Patient and Family
  • 7.4.2. Simon Broome Diagnosis for FH
  • 7.4.3. Dutch Clinic Network Diagnostic Criteria for FS
  • 7.4.4. European Atherosclerosis Society (EAS) Criteria
  • 7.4.5. National Institute for Health and Care Excellence (NICE) Guidelines for FH Identification
  • 7.4.6. Japan Atherosclerosis Society (JAS) Guidelines
• 7.5. Treatment
  • 7.5.1. Treatment Goal
  • 7.5.2. Treatment of Pediatric Homozygous Familial Hypercholesterolemia
  • 7.5.3. Treatment Algorithm for Homozygous Familial Hypercholesterolemia

8. Patient Journey

9. Epidemiology and Patient Population

• 9.1. Key Findings
• 9.2. Assumptions and Rationale: The 7MM
  • 9.2.1. Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia
  • 9.2.2. Mutation-specific Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia
• 9.3. Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in the 7MM
• 9.4. The US
  • 9.4.1. Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in the US
  • 9.4.2. Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in the US
• 9.5. EU4 and the UK
  • 9.5.1. Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in EU4 and the UK
  • 9.5.2. Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in EU4 and the UK
• 9.6. Japan
  • 9.6.1. Total Diagnosed Prevalent Cases of Homozygous Familial Hypercholesterolemia in Japan
  • 9.6.2. Mutation-specific Cases of Homozygous Familial Hypercholesterolemia in Japan

10. Marketed Drugs

• 10.1. Key Cross Competition
• 10.2. EVKEEZA (evinacumab): Regeneron/Ultragenyx
  • 10.2.1. Drug Description
  • 10.2.2. Regulatory Milestones
  • 10.2.3. Other Development Activities
  • 10.2.4. Clinical Development
  • 10.2.5. Clinical Trial Information
  • 10.2.6. Safety and Efficacy
  • 10.2.7. Product Profile
• 10.3. JUXTAPID/LOJUXTA (lomitapide): Chiesi Farmaceutici/Recordati
  • 10.3.1. Drug Description
  • 10.3.2. Regulatory Milestones
  • 10.3.3. Other Development Activities
  • 10.3.4. Clinical Development
  • 10.3.5. Clinical Trial Information
  • 10.3.6. Safety and Efficacy
  • 10.3.7. Product Profile
• 10.4. PRALUENT (alirocumab): Regeneron/Sanofi
  • 10.4.1. Drug Description
  • 10.4.2. Regulatory Milestones
  • 10.4.3. Other Development Activities
  • 10.4.4. Clinical Development
  • 10.4.5. Clinical Trial Information
  • 10.4.6. Safety and Efficacy
  • 10.4.7. Product Profile
• 10.5. REPATHA (evolocumab): Amgen
  • 10.5.1. Drug Description
  • 10.5.2. Regulatory Milestones
  • 10.5.3. Other Development Activities
  • 10.5.4. Clinical Development
  • 10.5.5. Clinical Trial Information
  • 10.5.6. Safety and Efficacy
  • 10.5.7. Product Profile
• 10.6. ATORVALIQ (atorvastatin): CMP Pharma
  • 10.6.1. Drug Description
  • 10.6.2. Regulatory Milestones
  • 10.6.3. Other Development Activities
  • 10.6.4. Product Profile

11. Emerging Drugs

• 11.1. Key Cross Competition
• 11.2. ARO-ANG3: Arrowhead Pharmaceuticals
  • 11.2.1. Drug Description
  • 11.2.2. Other Developmental Activity
  • 11.2.3. Clinical Development
  • 11.2.4. Clinical Trials Information
  • 11.2.5. Safety and Efficacy
  • 11.2.6. Product Profile
  • 11.2.7. Analysts' Views
• 11.3. LEQVIO (inclisiran/KJX839): Novartis/Alnylam Pharmaceuticals
  • 11.3.1. Drug Description
  • 11.3.2. Other Developmental Activity
  • 11.3.3. Clinical Development
  • 11.3.4. Clinical Trials Information
  • 11.3.5. Safety and Efficacy
  • 11.3.6. Product Profile
  • 11.3.7. Analysts' Views
• 11.4. Lerodalcibep (LIB003): LIB Therapeutics
  • 11.4.1. Drug Description
  • 11.4.2. Other Developmental Activity
  • 11.4.3. Clinical Development
  • 11.4.4. Clinical Trials Information
  • 11.4.5. Safety and Efficacy
  • 11.4.6. Product Profile
  • 11.4.7. Analysts' Views

12. Homozygous Familial Hypercholesterolemia: Market Analysis

• 12.1. Key Findings
• 12.2. Key Market Forecast Assumptions
• 12.3. Market Outlook
• 12.4. Conjoint Analysis
• 12.5. Total Market Size of Homozygous Familial Hypercholesterolemia in the 7MM
• 12.6. Total Market Size of Homozygous Familial Hypercholesterolemia by Therapies in the 7MM
• 12.7. Market Size of Homozygous Familial Hypercholesterolemia in the US
  • 12.7.1. Total Market Size of Homozygous Familial Hypercholesterolemia in the US
  • 12.7.2. The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in the US
• 12.8. Market Size of Homozygous Familial Hypercholesterolemia in EU4 and the UK
  • 12.8.1. Total Market Size of Homozygous Familial Hypercholesterolemia in EU4 and the UK
  • 12.8.2. The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in EU4 and the UK
• 12.9. Market Size of Homozygous Familial Hypercholesterolemia in Japan
  • 12.9.1. Total Market Size of Homozygous Familial Hypercholesterolemia in Japan
  • 12.9.2. The Market Size of Homozygous Familial Hypercholesterolemia by Therapies in Japan

13. Key Opinion Leaders' Views

14. SWOT Analysis

15. Unmet Needs

16. Market Access and Reimbursement

• 16.1. The United States
  • 16.1.1. Center for Medicare & Medicaid Services (CMS)
• 16.2. In EU4 and the UK
  • 16.2.1. Germany
  • 16.2.2. France
  • 16.2.3. Italy
  • 16.2.4. Spain
  • 16.2.5. The United Kingdom
• 16.3. Japan
  • 16.3.1. MHLW

17. Appendix

• 17.1. Bibliography
• 17.2. Acronyms and Abbreviations
• 17.3. Report Methodology

18. DelveInsight Capabilities

19. Disclaimer

20. About DelveInsight