Table of Content

1 KEY INSIGHTS

2 EXECUTIVE SUMMARY

3 HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (HOFH) MARKET OVERVIEW AT A GLANCE
3.1 MARKET SHARE (%) DISTRIBUTION IN 2017
3.2 MARKET SHARE (%) DISTRIBUTION IN 2030

4 DISEASE BACKGROUND AND OVERVIEW
4.1 INTRODUCTION
4.1 SYMPTOMS OF HOFH
4.2 GENETICS OF HOFH
4.2.1 Genetic heterogeneity translates to phenotypic variability
4.2.2 Metabolic characteristics of HoFH
4.3 DIAGNOSIS OF HOFH

5 RECOGNIZED ESTABLISHMENTS

6 TREATMENT AND MANAGEMENT
6.1.1 Lifestyle Modifications
6.1.2 Medication
6.1.3 LDL Apheresis
6.1.4 Liver Transplantation
6.1.5 Possible future treatments for HoFH
6.1.6 Treatment for Pediatric HoFH
7 HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA: GUIDELINES BY EUROPEAN ATHEROSCLEROSIS SOCIETY (EAS) (2014)
7.1 DIAGNOSIS OF HOFH
7.1.1 Plasma low-density lipoprotein cholesterol levels
7.1.2 Xanthomas and arcus corneae
7.1.3 Family history
7.1.4 Differentiation from sitosterolaemia
7.1.5 Cardiovascular complications and natural history
7.1.6 Screening for subclinical atherosclerosis
7.2 CURRENT TREATMENT FOR HOFH
7.2.1 Pharmacotherapy
7.2.2 Lipoprotein apheresis
7.2.3 Liver transplantation and other surgical approaches
7.2.4 Other issues
7.2.5 Recommendations

8 JAPAN ATHEROSCLEROSIS SOCIETY (JAS) GUIDELINES FOR PREVENTION OF ATHEROSCLEROTIC CARDIOVASCULAR DISEASES 2017
8.1 DIAGNOSIS OF HOFH
8.1.1 Diagnostic Criteria
8.2 TREATMENT OF HOFH
8.2.1 Target Levels for Management
8.2.2 Lifestyle Modification
8.2.3 Drug Therapy
8.2.4 LDL Apheresis in HoFH
8.2.5 Pregnancy and Delivery of Patients with HoFH
8.2.6 HoFH Designated as an Intractable Disease

9 GUIDANCE FOR PEDIATRIC FAMILIAL HYPERCHOLESTEROLEMIA (2017)
9.1 DIAGNOSIS OF PEDIATRIC HOFH
9.1.1 Clinical Features of Pediatric HoFH
9.1.2 Genetic Diagnosis of HoFH
9.1.3 Important Notes for Diagnosis of HoFH
9.1.4 Differential Diagnosis
9.2 EVALUATION FOR ATHEROSCLEROTIC CARDIOVASCULAR DISEASES IN PEDIATRIC HOFH
9.2.1 Medical Questionnaire
9.2.2 Physical Findings
9.2.3 Biochemical Examination
9.2.4 Morphological Examinations
9.3 TREATMENT OF PEDIATRIC HOFH
9.3.1 Drug Therapy for Pediatric HoFH

10 TREATMENT ALGORITHM FOR HOFH

11 EPIDEMIOLOGY AND PATIENT POPULATION
11.1 KEY FINDINGS
11.2 7MM PREVALENT POPULATION OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
11.3 7MM DIAGNOSED PREVALENT POPULATION OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

12 7MM EPIDEMIOLOGY OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (HOFH)
12.1 ASSUMPTIONS AND RATIONALE
12.2 UNITED STATES
12.2.1 Prevalence of Homozygous Familial Hypercholesterolemia (HoFH) in the United States
12.2.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in the United States
12.2.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in the United States
12.3 EU5 COUNTRIES
12.4 GERMANY
12.4.1 Prevalence of Homozygous Familial Hypercholesterolemia in Germany
12.4.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Germany
12.4.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Germany
12.5 FRANCE
12.5.1 Prevalence of Homozygous Familial Hypercholesterolemia in France
12.5.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in France
12.5.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in France
12.6 ITALY
12.6.1 Prevalence of Homozygous Familial Hypercholesterolemia in Italy
12.6.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Italy
12.6.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Italy
12.7 SPAIN
12.7.1 Prevalence of Homozygous Familial Hypercholesterolemia in Spain
12.7.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Spain
12.7.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Spain
12.8 UNITED KINGDOM
12.8.1 Prevalence of Homozygous Familial Hypercholesterolemia in the United Kingdom
12.8.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in the United Kingdom
12.8.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in the United Kingdom
12.9 JAPAN
12.9.1 Prevalence of Homozygous Familial Hypercholesterolemia in Japan
12.9.2 Diagnosed Prevalence of Homozygous Familial Hypercholesterolemia in Japan
12.9.3 Mutation-specific Distribution of Homozygous Familial Hypercholesterolemia in Japan

13 UNMET NEEDS

14 MARKETED DRUGS
14.1 REPATHA (EVOLOCUMAB/AMG 145): AMGEN
14.1.1 Drug Description
14.1.2 Regulatory Milestones
14.1.3 Other Development Activities
14.1.4 Clinical Development
14.1.5 Clinical Trials Information
14.1.6 Safety and Efficacy
14.1.7 Product Profile
14.2 JUXTAPID (LOMITAPIDE): AEGERION PHARMACEUTICAL
14.2.1 Drug Description
14.2.2 Regulatory Milestones
14.2.3 Other Development Activities
14.2.4 Clinical Trials Information
14.2.5 Safety and Efficacy
14.2.6 Product Profile

15 EMERGING DRUGS
15.1 KEY COMPETITIORS
15.2 EVINACUMAB (REGN1500): REGENERON PHARMACEUTICALS
15.2.1 Drug Description
15.2.2 Other Development Activities
15.2.3 Clinical Development
15.2.4 Safety and Efficacy
15.2.5 Product Profile
15.3 INCLISIRAN: ALNYLAM PHARMACEUTICALS/NOVARTIS
15.3.1 Drug Description
15.3.2 Other Development Activities
15.3.3 Clinical Development
15.3.4 Clinical Trials Information
15.3.5 Safety and Efficacy
15.3.6 Product Profile
15.4 LIB003: LIB THERAPEUTICS
15.4.1 Drug Description
15.4.2 Clinical Development
15.4.3 Product Profile
15.5 PRALUENT (ALIROCUMAB): SANOFI/REGENERON PHARMACEUTICALS
15.5.1 Product Description
15.5.2 Other Developmental Activities
15.5.3 Clinical Development
15.5.4 Safety and Efficacy
15.5.5 Product Profile
15.6 GEMCABENE: NEUROBO PHARMACEUTICALS
15.6.1 Product Description
15.6.2 Other Developmental Activities
15.6.3 Clinical Development
15.6.4 Safety and Efficacy
15.6.5 Product Profile
15.7 ARO-ANG3: ARROWHEAD PHARMACEUTICALS
15.7.1 Product Description
15.7.2 Other Developmental Activities
15.7.3 Clinical Development
15.7.4 Safety and Efficacy
15.7.5 Product Profile

16 MARKET ACCESS AND REIMBURSEMENT

17 HOMOZYGOUS FAMILIAL HYPERCHOLESTROLEMIA (HOFH): SEVEN MAJOR MARKET ANALYSIS
17.1 KEY FINDINGS
17.2 MARKET SIZE OF HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (HOFH) IN THE 7MM
18 7MM MARKET OUTLOOK
18.1 UNITED STATES MARKET SIZE
18.1.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.1.2 Market Size by Current Therapies
18.1.3 Market Size by Emerging Therapies
18.2 EU5 MARKET SIZE
18.3 GERMANY
18.3.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.3.2 Market Size by Current Therapies
18.3.3 Market Size by Emerging Therapies
18.4 FRANCE
18.4.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.4.2 Market Size by Current Therapies
18.4.3 Market Size by Emerging Therapies
18.5 ITALY
18.5.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.5.2 Market Size by Current Therapies
18.5.3 Market Size by Emerging Therapies
18.6 SPAIN
18.6.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.6.2 Market Size by Current Therapies
18.6.3 Market Size by EmergingTherapies
18.7 UNITED KINGDOM
18.7.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.7.2 Market Size by Current Therapies
18.7.3 Market Size by Emerging Therapies
18.8 JAPAN MARKET SIZE
18.8.1 Total Market size of Homozygous Familial Hypercholesterolemia
18.8.2 Market Size by Current Therapies
18.8.3 Market Size by Emerging Therapies
19 CASE REPORTS
20 MARKET DRIVERS
21 MARKET BARRIERS
22 SWOT ANALYSIS
23 APPENDIX
23.1 BIBLIOGRAPHY
23.2 REPORT METHODOLOGY
24 DELVEINSIGHT CAPABILITIES
25 DISCLAIMER
26 ABOUT DELVEINSIGHT



List of Figures


FIGURE 1: PROTEINS AFFECTING LOW-DENSITY LIPOPROTEIN RECEPTOR FUNCTION.
FIGURE 2: GENETICS AND GENETIC HETEROGENEITY OF HOFH
FIGURE 3: MECHANISMS OF ACTIONS OF LIPID-LOWERING THERAPIES
FIGURE 4: CLINICAL GENETIC TESTING FOR FAMILIAL HYPERCHOLESTEROLEMIA
FIGURE 5: ALGORITHM OF TREATMENT OF PEDIATRIC HOFH
FIGURE 6: TREATMENT FLOW CHART FOR ADULT (15 YEARS OR OVER) HOFH
FIGURE 7: PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
FIGURE 8: DIAGNOSED PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
FIGURE 9: PREVALENCE OF HOFH IN THE US (2017-2030)
FIGURE 10: DIAGNOSED PREVALENCE OF HOFH IN THE US (2017-2030)
FIGURE 11: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE US (2017-2030)
FIGURE 12: PREVALENCE OF HOFH IN GERMANY (2017-2030)
FIGURE 13: DIAGNOSED PREVALENCE OF HOFH IN GERMANY (2017-2030)
FIGURE 14: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN GERMANY (2017-2030)
FIGURE 15: PREVALENCE OF HOFH IN FRANCE (2017-2030)
FIGURE 16: DIAGNOSED PREVALENCE OF HOFH IN FRANCE (2017-2030)
FIGURE 17: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN FRANCE (2017-2030)
FIGURE 18: PREVALENCE OF HOFH IN ITALY (2017-2030)
FIGURE 19: DIAGNOSED PREVALENCE OF HOFH IN ITALY (2017-2030)
FIGURE 20: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN ITALY (2017-2030)
FIGURE 21: PREVALENCE OF HOFH IN SPAIN (2017-2030)
FIGURE 22: DIAGNOSED PREVALENCE OF HOFH IN SPAIN (2017-2030)
FIGURE 23: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN SPAIN (2017-2030)
FIGURE 24: PREVALENCE OF HOFH IN THE UK (2017-2030)
FIGURE 25: DIAGNOSED PREVALENCE OF HOFH IN THE UK (2017-2030)
FIGURE 26: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE UK (2017-2030)
FIGURE 27: PREVALENCE OF HOFH IN JAPAN (2017-2030)
FIGURE 28: DIAGNOSED PREVALENCE OF HOFH IN JAPAN (2017-2030)
FIGURE 29: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN JAPAN (2017-2030)
FIGURE 30: UNMET NEEDS OF HOFH
FIGURE 31: SEVEN MAJOR MARKET SIZE OF HOFH IN USD MILLION (2017-2030)
FIGURE 32: TOTAL MARKET SIZE OF HOFH IN THE UNITED STATES, USD MILLIONS (2017-2030)
FIGURE 33: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN THE UNITED STATES, IN USD MILLION (2017-2030)
FIGURE 34: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN THE UNITED STATES, IN USD MILLION (2017-2030)
FIGURE 35: TOTAL MARKET SIZE OF HOFH IN GERMANY, USD MILLIONS (2017-2030)
FIGURE 36: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN GERMANY, IN USD MILLION (2017-2030)
FIGURE 37: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN GERMANY, IN USD MILLION (2017-2030)
FIGURE 38: TOTAL MARKET SIZE OF HOFH IN FRANCE, USD MILLIONS (2017-2030)
FIGURE 39: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN FRANCE, IN USD MILLION (2017-2030)
FIGURE 40: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN FRANCE, IN USD MILLION (2017-2030)
FIGURE 41: TOTAL MARKET SIZE OF HOFH IN ITALY, USD MILLIONS (2017-2030)
FIGURE 42: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN ITALY, IN USD MILLION (2017-2030)
FIGURE 43: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN ITALY, IN USD MILLION (2017-2030)
FIGURE 44: TOTAL MARKET SIZE OF HOFH IN SPAIN, USD MILLIONS (2017-2030)
FIGURE 45: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN SPAIN, IN USD MILLION (2017-2030)
FIGURE 46: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN SPAIN, IN USD MILLION (2017-2030)
FIGURE 47: TOTAL MARKET SIZE OF HOFH IN THE UNITED KINGDOM, USD MILLIONS (2017-2030)
FIGURE 48: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN THE UNITED KINGDOM, IN USD MILLION (2017-2030)
FIGURE 49: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN THE UNITED KINGDOM, IN USD MILLION (2017-2030)
FIGURE 50: TOTAL MARKET SIZE OF HOFH IN JAPAN, USD MILLIONS (2017-2030)
FIGURE 51: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN JAPAN, IN USD MILLION (2017-2030)
FIGURE 52: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN JAPAN, IN USD MILLION (2017-2030)
FIGURE 53: MARKET DRIVERS
FIGURE 54: MARKET BARRIERS
FIGURE 55: SWOT ANALYSIS OF HOFH


List of Tables


TABLE 1: SUMMARY OF HOFH, MARKET, EPIDEMIOLOGY AND KEY EVENTS (2017-2030)
TABLE 2: RECOGNIZED ESTABLISHMENTS
TABLE 3: CRITERIA FOR THE DIAGNOSIS OF HOFH
TABLE 4: CARDIOVASCULAR COMPLICATIONS OF HOFH
TABLE 5: SUMMARY OF EAS CONSENSUS PANEL RECOMMENDATIONS.
TABLE 6: DIAGNOSTIC CRITERIA FOR HOFH IN ADULTS (15 YEARS OF AGE OR OLDER)
TABLE 7: PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
TABLE 8: DIAGNOSED PREVALENT POPULATION OF HOFH IN THE 7MM (2017-2030)
TABLE 9: PREVALENCE OF HOFH IN THE US (2017-2030)
TABLE 10: DIAGNOSED PREVALENCE OF HOFH IN THE US (2017-2030)
TABLE 11: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE US (2017-2030)
TABLE 12: PREVALENCE OF HOFH IN GERMANY (2017-2030)
TABLE 13: DIAGNOSED PREVALENCE OF HOFH IN GERMANY (2017-2030)
TABLE 14: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN GERMANY (2017-2030)
TABLE 15: PREVALENCE OF HOFH IN FRANCE (2017-2030)
TABLE 16: DIAGNOSED PREVALENCE OF HOFH IN FRANCE (2017-2030)
TABLE 17: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN FRANCE (2017-2030)
TABLE 18: PREVALENCE OF HOFH IN ITALY (2017-2030)
TABLE 19: DIAGNOSED PREVALENCE OF HOFH IN ITALY (2017-2030)
TABLE 20: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN ITALY (2017-2030)
TABLE 21: PREVALENCE OF HOFH IN SPAIN (2017-2030)
TABLE 22: DIAGNOSED PREVALENCE OF HOFH IN SPAIN (2017-2030)
TABLE 23: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN SPAIN (2017-2030)
TABLE 24: PREVALENCE OF HOFH IN THE UK (2017-2030)
TABLE 25: DIAGNOSED PREVALENCE OF HOFH IN THE UK (2017-2030)
TABLE 26: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN THE UK (2017-2030)
TABLE 27: PREVALENCE OF HOFH IN JAPAN (2017-2030)
TABLE 28: DIAGNOSED PREVALENCE OF HOFH IN JAPAN (2017-2030)
TABLE 29: MUTATION-SPECIFIC DISTRIBUTION OF HOFH IN JAPAN (2017-2030)
TABLE 30: REPATHA (EVOLOCUMAB/AMG 145), CLINICAL TRIAL DESCRIPTION, 2020
TABLE 31: JUXTAPID (LOMITAPIDE), CLINICAL TRIAL DESCRIPTION, 2020
TABLE 32: COMPARISON OF EMERGING DRUGS UNDER DEVELOPMENT
TABLE 33: EVINACUMAB (REGN1500), CLINICAL TRIAL DESCRIPTION
TABLE 34: INCLISIRAN, CLINICAL TRIAL DESCRIPTION, 2020
TABLE 35: LIB003, CLINICAL TRIAL DESCRIPTION, 2020
TABLE 36: PRALUENT, CLINICAL TRIAL DESCRIPTION, 2020
TABLE 37: GEMCABENE, CLINICAL TRIAL DESCRIPTION, 2020
TABLE 38: ARO-ANG3, CLINICAL TRIAL DESCRIPTION
TABLE 39: SEVEN MAJOR MARKET SIZE OF HOFH IN USD MILLION (2017-2030)
TABLE 40: TOTAL MARKET SIZE OF HOFH IN THE UNITED STATES, IN USD MILLION (2017-2030)
TABLE 41: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN THE UNITED STATES, IN USD MILLION (2017-2030)
TABLE 42: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN THE UNITED STATES, IN USD MILLION (2017-2030)
TABLE 43: TOTAL MARKET SIZE OF HOFH IN GERMANY, IN USD MILLION (2017-2030)
TABLE 44: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN GERMANY, IN USD MILLION (2017-2030)
TABLE 45: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN GERMANY, IN USD MILLION (2017-2030)
TABLE 46: TOTAL MARKET SIZE OF HOFH IN FRANCE, IN USD MILLION (2017-2030)
TABLE 47: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN FRANCE, IN USD MILLION (2017-2030)
TABLE 48: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN FRANCE, IN USD MILLION (2017-2030)
TABLE 49: TOTAL MARKET SIZE OF HOFH IN ITALY, IN USD MILLION (2017-2030)
TABLE 50: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN ITALY, IN USD MILLION (2017-2030)
TABLE 51: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN ITALY, IN USD MILLION (2017-2030)
TABLE 52: TOTAL MARKET SIZE OF HOFH IN SPAIN, IN USD MILLION (2017-2030)
TABLE 53: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN SPAIN, IN USD MILLION (2017-2030)
TABLE 54: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN SPAIN, IN USD MILLION (2017-2030)
TABLE 55: TOTAL MARKET SIZE OF HOFH IN THE UNITED KINGDOM, IN USD MILLION (2017-2030)
TABLE 56: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN THE UNITED KINGDOM, IN USD MILLION (2017-2030)
TABLE 57: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN THE UNITED KINGDOM, IN USD MILLION (2017-2030)
TABLE 58: TOTAL MARKET SIZE OF HOFH IN JAPAN, IN USD MILLION (2017-2030)
TABLE 59: MARKET SIZE OF HOFH BY CURRENT THERAPIES IN JAPAN, IN USD MILLION (2017-2030)
TABLE 60: MARKET SIZE OF HOFH BY EMERGING THERAPIES IN JAPAN, IN USD MILLION (2017-2030)