Congenital Hyperinsulinism Epidemiology Forecast

DelveInsight’s ‘Congenital Hyperinsulinism (CHI) - Epidemiology Forecast – 2030’ report delivers an in-depth understanding of the disease, historical and forecasted Congenital Hyperinsulinism (CHI) epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan.


Geographies Covered

  • The United States
  • EU5 (Germany, France, Italy, Spain, and the United Kingdom)
  • Japan

Study Period: 2017–2030


Disease Understanding

Congenital hyperinsulinism (CHI) refers to a clinically, genetically, and morphologically heterogeneous group of disorders associated with dysregulated insulin secretion. This condition causes individuals to have abnormally high levels of insulin, which is a hormone that helps control blood sugar levels.


People with this condition have frequent occurrences of low blood sugar (hypoglycemia). These occurrences can lead to a lack of energy (lethargy), irritability, or difficulty feeding in infants and young children. Repeated episodes of low blood sugar increase the risk of severe complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. CHI affects approximately 1 in 50,000 newborns, and is more common in certain populations, affecting up to 1 in 2,500 newborns.


Genetic forms of CHI are due to mutation in the genes involved in the regulation of insulin secretion. CHI typically presents with fasting hypoglycemia but can present with postprandial hypoglycemia or, in some cases, hypoglycemia can be provoked by protein/leucine loading or even exercise. Patients with CHI can vary in their presentation from having no symptoms to having severe, medically unresponsive disease, which might require a near-total pancreatectomy.


Mutations in the ABCC8 and KCNJ11 genes are the most common causes of CHI and account for 40–45% of all cases (82% of diazoxide-unresponsive patients), whereas mutations have been identified on six other genes in approximately 5–10% of the cases. The genetic etiology for the remaining 45–55% of patients is still unknown. 55–60% of diazoxide-unresponsive CHI are focal forms, whereas 40–45% are diffuse forms, in western countries.


Histologically, CHI has been classified into two major subgroups: diffuse (affecting the whole pancreas) and focal (being localized to a single region of the pancreas) disease. Advances in molecular genetics, radiological imaging techniques (such as fluorine-18 L-3, 4-dihydroxyphenylalanine-PET-CT (18FDOPA-PET-CT scanning), and surgical techniques have completely changed the clinical approach to infants with severe congenital forms of hyperinsulinemic hypoglycemia.


Congenital Hyperinsulinism (CHI) Epidemiology Perspective by DelveInsight

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by Total Diagnosed Prevalent Population of Congenital Hyperinsulinism (CHI), Type-specific Diagnosed Prevalence based on Cause of Congenital Hyperinsulinism (CHI), Type-specific Diagnosed Prevalence based on Histological Presentation of Congenital Hyperinsulinism (CHI) and Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism (CHI) in the 7MM market covering the United States, EU5 countries (Germany, France, Italy, Spain, and United Kingdom) and Japan from 2017 to 2030.


Congenital Hyperinsulinism (CHI) Detailed Epidemiology Segmentation

  • The total diagnosed prevalent population of CHI in the seven major markets was found to be 20,008 in 2017.
  • The diagnosed prevalent cases of CHI, in the United States, were found to be 8,557 in 2017.
  • In 2017, the cases of transient, persistent, and unknown type of CHI in the United States, were found to be 5,134, 2,995 and 428, respectively.
  • It was found that in the United States, the focal, diffuse, and atypical cases of CHI were 3,594, 4,603 and 359, respectively, in 2017.
  • In 2017, it was found that in the United States, mutations in ABCC8 and KCNJ11 genes were found in 4,706 cases, while other gene mutations accounted for 3,850 cases.
  • In the EU5 countries, the diagnosed prevalence of CHI was found to be maximum in the United Kingdom with 2,281 cases, followed by Germany with 1,966 cases in 2017. While, the least number of cases were found in Spain, with 1,224 cases in 2017.
  • In Japan, the diagnosed prevalence of CHI was found to be 2,581 in 2017.


Scope of the Report

  • The report covers the descriptive overview of Congenital Hyperinsulinism (CHI), explaining its causes, signs and symptoms, pathophysiology.
  • The report provides insight into the 7MM historical and forecasted patient pool covering the United States, EU5 countries (Germany, France, Italy, Spain, and United Kingdom) and Japan.
  • The report assesses the disease risk and burden and highlights the unmet needs of Congenital Hyperinsulinism (CHI).
  • The report provides the segmentation of the disease epidemiology for the 7MM by Total Diagnosed Prevalent Population of Congenital Hyperinsulinism (CHI), Type-specific Diagnosed Prevalence based on Cause of Congenital Hyperinsulinism (CHI), Type-specific Dignosed Prevalence based on Histological Presentation of Congenital Hyperinsulinism (CHI) and Mutation-specific Disgnosed Prevalence of Congenital Hyperinsulinism (CHI).


Report Highlights

  • Eleven Year Forecast of Congenital Hyperinsulinism (CHI)
  • 7MM Coverage
  • Total Diagnosed Prevalent Population of Congenital Hyperinsulinism (CHI)
  • Delvelnsight has also analysed mutation-specific data of CHI, which suggests that mutations in the ABCC8 and KCNJ11 genes are the most common causes of CHI while mutation in several other genes (GLUD1, GCK, HADH, SLC16A1, HNF4A, and HNF1A) are also involved in the development of CHI.
  • As per DelveInsight’s analysis, CHI, based on cause, can be categorized into three types, namely, Transient, Persistent and Unknown.
  • Type-specific data of CHI on the basis of histological presentation suggests that CHI can be divided into three sub-types, namely, Focal, Diffuse, and Atypical CHI.
  • Currently, the first-line treatment of CHI involves the use of KATP channel agonist (diazoxide) alone or in combination with glucagon. The second-line treatment option for diazoxide unresponsive patients includes somatostatin analogs (octreotide), glucagon, calcium channel antagonists (nifedipine), and others (glucocorticosteroids and alpha‐glucosidase inhibitors).
  • Expected Launch of potential therapies, Dasiglucagon (Zealand Pharma), RZ3584/XOMA 358 (XOMA Pharmaceuticals/Rezolute), CSI-Glucagon (Xeris Pharmaceuticals), and Avexitide (Eiger BioPharmaceuticals) will increase the market size in the coming years, assisted by an increase in diagnosed prevalent population of CHI.


Key Questions Answered

  • What is the disease risk, burden and unmet needs of Congenital Hyperinsulinism (CHI)?
  • What is the historical Congenital Hyperinsulinism (CHI) patient pool in the United States, EU5 (Germany, France, Italy, Spain, and the UK) and Japan?
  • What would be the forecasted patient pool of Congenital Hyperinsulinism (CHI) at the 7MM level?
  • What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Congenital Hyperinsulinism (CHI)?
  • Out of the above-mentioned countries, which country would have the highest prevalent population of Congenital Hyperinsulinism (CHI) during the forecast period (2020–2030)?
  • At what CAGR the population is expected to grow across the 7MM during the forecast period (2020–2030)?


Reasons to buy

  • The Congenital Hyperinsulinism (CHI) report will allow the user to -
  • Develop business strategies by understanding the trends shaping and driving the 7MM Congenital Hyperinsulinism (CHI) market.
  • Quantify patient share distribution in the 7MM for Congenital Hyperinsulinism (CHI).
  • The Congenital Hyperinsulinism (CHI) epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists.
  • The Congenital Hyperinsulinism (CHI) epidemiology model developed by DelveInsight is easy to navigate, interactive with dashboards, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports data presented in the report and showcases disease trends over the eleven-year forecast period using reputable sources.


Key Assessments

  • Patient Segmentation
  • Disease Risk and Burden
  • Risk of disease by the segmentation
  • Factors driving growth in a specific patient population

1 Key Insights

2 Congenital Hyperinsulinism (CHI) Overview at a Glance

3 Executive Summary of Congenital Hyperinsulinism (CHI)

4 Disease Background and Overview: Congenital Hyperinsulinism (CHI)

4.1 Introduction

4.2 Pancreatic β Cell Physiology, Glucose Metabolism and Insulin Secretion

4.3 Types of CHI based on histology

4.3.1 Focal CHI

4.3.2 Diffuse CHI

4.4 Causes of CHI

4.4.1 Transient Hyperinsulinism

4.4.2 Persistent Hyperinsulinism

4.5 Molecular Basis

4.5.1 Modes of Inheritance

4.6 Clinical Presentation and Symptoms

4.6.1 During the neonatal period

4.6.2 During infancy and childhood

4.6.3 Syndromic CHI are usually diazoxide-responsive

4.7 Pathophysiology

4.8 Genetics of hyperinsulinaemic hypoglycemia

4.8.1 Pancreatic β-cell KATP Channel Defects

4.8.2 Glutamate Dehydrogenase (GDH) and Hyperinsulinaemia-hyperammonaemia Syndrome (HI/HA)

4.8.3 Mutations in Mitochondrial L-3-Hydroxyacyl-CoA Dehydrogenase (HADH) and CHI

4.8.4 Activating Mutations in GCK and CHI

4.8.5 Mutations in Solute Carrier Family 16 Member 1 (SLC16A1) and Exercise-induced CHI

4.8.6 Hepatocyte Nuclear Factor (HNF) 1Aα&4α (HNF1α&4α) and CHI

4.8.7 Mutations in the Mitochondrial Uncoupling Protein 2 (UCP2) and CHI

4.8.8 Somatic overexpression of Hexokinase 1 (HK1) and CHI

4.8.9 Phosphoglucomutase 1 and 2 (PGM1 and 2) Gene Mutations and CHI

4.9 Diagnosis

4.10 Differential Diagnosis

5 Epidemiology and Patient Population

5.1 Key Findings

5.2 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in the 7MM

6 Country Wise-Epidemiology of Congenital Hyperinsulinism

6.1 United States

6.1.1 Assumptions and Rationale

6.1.2 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in the United States

6.1.3 Type-specific Diagnosed Prevalence Based on Disease Persistance in the United States

6.1.4 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in the United States

6.1.5 Mutation-specific Diagnosed Prevalence of CHI in the United States

6.2 EU5 Countries

6.2.1 Assumptions and Rationale

6.3 Germany

6.3.1 Total Diagnosed Prevalent Population of CHI in Germany

6.3.2 Type-specific Diagnosed Prevalence Based on Disease Persistance in Germany

6.3.3 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Germany

6.3.4 Mutation-specific Diagnosed Prevalence of CHI in Germany

6.4 France

6.4.1 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in France

6.4.2 Type-specific Diagnosed Prevalence Based on Disease Persistance in France

6.4.3 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in France

6.4.4 Mutation-specific Diagnosed Prevalence of CHI in France

6.5 Italy

6.5.1 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in Italy

6.5.2 Type-specific Diagnosed Prevalence Based on Disease Persistance in Italy

6.5.3 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Italy

6.5.4 Mutation-specific Diagnosed Prevalence of CHI in Italy

6.6 Spain

6.6.1 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in Spain

6.6.2 Type-specific Diagnosed Prevalence Based on Disease Persistance in Spain

6.6.3 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Spain

6.6.4 Mutation-specific Diagnosed Prevalence of CHI in Spain

6.7 United Kingdom

6.7.1 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in the United Kingdom

6.7.2 Type-specific Diagnosed Prevalence Based on Disease Persistance in the United Kingdom

6.7.3 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in the United Kingdom

6.7.4 Mutation-specific Diagnosed Prevalence of CHI in the United Kingdom

6.8 Japan

6.8.1 Assumptions and Rationale

6.8.2 Total Diagnosed Prevalent Population of Congenital Hyperinsulinism in Japan

6.8.3 Type-specific Diagnosed Prevalence Based on Disease Persistance in Japan

6.8.4 Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Japan

6.8.5 Mutation-specific Diagnosed Prevalence of CHI in Japan

7 Appendix

7.1 Bibliography

7.2 Report Methodology

8 DelveInsight Capabilities

9 Disclaimer

10 About DelveInsight

List of Tables

Table 1: Summary of CHI, Epidemiology and Key Events (2017–2030)

Table 2: Genetic mechanisms of CHI

Table 3: Total Diagnosed Prevalent Population of CHI in the 7MM (2017–2030)

Table 4: Total Diagnosed Prevalent Population of CHI in the United States (2017–2030)

Table 5: Type-specific Diagnosed Prevalence Based on Disease Persistance in the United States (2017–2030)

Table 6: Type-specific Prevalence Based on Histological Presentation of CHI in the United States (2017–2030)

Table 7: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in the United States (2017–2030)

Table 8: Total Diagnosed Prevalent Population of CHI in Germany (2017–2030)

Table 9: Type-specific Diagnosed Prevalence Based on Cause of CHI in Germany (2017–2030)

Table 10: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Germany (2017–2030)

Table 11: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in Germany (2017–2030)

Table 12: Total Diagnosed Prevalent Population of CHI in France (2017–2030)

Table 13: Type-specific Diagnosed Prevalence Based on Disease Persistance in France (2017–2030)

Table 14: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in France (2017–2030)

Table 15: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in France (2017–2030)

Table 16: Total Diagnosed Prevalent Population of CHI in Italy (2017–2030)

Table 17: Type-specific Diagnosed Prevalence Based on Disease Persistance of CHI in Italy (2017–2030)

Table 18: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Italy (2017–2030)

Table 19: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in Italy (2017–2030)

Table 20: Total Diagnosed Prevalent Population of CHI in Spain (2017–2030)

Table 21: Type-specific Diagnosed Prevalence Based on Cause of CHI in Spain (2017–2030)

Table 22: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Spain (2017–2030)

Table 23: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in Spain (2017–2030)

Table 24: Total Diagnosed Prevalent Population of CHI in the United Kingdom (2017–2030)

Table 25: Type-specific Diagnosed Prevalence Based on Cause of CHI in the United Kingdom (2017–2030)

Table 26: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in the UK (2017–2030)

Table 27: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in the UK (2017–2030)

Table 28: Total Diagnosed Prevalent Population of CHI in Japan (2017–2030)

Table 29: Type-specific Diagnosed Prevalence Based on Disease Persistance in Japan (2017–2030)

Table 30: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Japan (2017–2030)

Table 31: Mutation-specific Diagnosed Prevalence of Congenital Hyperinsulinism in Japan (2017–2030)

List of Figures

Figure 1: Regulation of insulin release from pancreatic β-cell

Figure 2: Histological Types of CHI (Focal and Diffuse)

Figure 3: Persistent CHI

Figure 4: Mutations Occurred Throughout SUR1 and Kir6.2

Figure 5: Glucose Induced Insulin Secretion Pathway

Figure 6: KATP channel-dependent pathways of insulin secretion

Figure 7: Diagnostic Tree for CHI

Figure 8: Total Diagnosed Prevalent Population of CHI in the 7MM (2017–2030)

Figure 9: Total Diagnosed Prevalent Population of CHI in the United States (2017–2030)

Figure 10: Type-specific Diagnosed Prevalence Based on disease persistance in the US (2017–2030)

Figure 11: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in the US (2017–2030)

Figure 12: Mutation-specific Diagnosed Prevalence of CHI in the United States (2017–2030)

Figure 13: Total Diagnosed Prevalent Population of CHI in Germany (2017–2030)

Figure 14: Type-specific Diagnosed Prevalence Based on Disease Persistance in Germany (2017–2030)

Figure 15: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Germany (2017–2030)

Figure 16: Mutation-specific Diagnosed Prevalence of CHI in Germany (2017–2030)

Figure 17: Total Diagnosed Prevalent Population of CHI in France (2017–2030)

Figure 18: Type-specific Diagnosed Prevalence Based on Disease Persistance in France (2017–2030)

Figure 19: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in France (2017–2030)

Figure 20: Mutation-specific Diagnosed Prevalence of CHI in France (2017–2030)

Figure 21: Total Diagnosed Prevalent Population of CHI in Italy (2017–2030)

Figure 22: Type-specific Diagnosed Prevalence Based on Disease Persistance in Italy (2017–2030)

Figure 23: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Italy (2017–2030)

Figure 24: Mutation-specific Diagnosed Prevalence of CHI in Italy (2017–2030)

Figure 25: Total Diagnosed Prevalent Population of CHI in Spain (2017–2030)

Figure 26: Type-specific Diagnosed Prevalence Based on Based on Disease Persistance in Spain (2017–2030)

Figure 27: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Spain (2017–2030)

Figure 28: Mutation-specific Diagnosed Prevalence of CHI in Spain (2017–2030)

Figure 29: Total Diagnosed Prevalent Population of CHI in the United Kingdom (2017–2030)

Figure 30: Type-specific Diagnosed Prevalence Based on Disease Persistance in the UK (2017–2030)

Figure 31: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in the UK (2017–2030)

Figure 32: Mutation-specific Diagnosed Prevalence of CHI in the United Kingdom (2017–2030)

Figure 33: Total Diagnosed Prevalent Population of CHI in Japan (2017–2030)

Figure 34: Type-specific Diagnosed Prevalence Based on Disease Persistance in Japan (2017–2030)

Figure 35: Type-specific Diagnosed Prevalence Based on Histological Presentation of CHI in Japan (2017–2030)

Figure 36: Mutation-specific Diagnosed Prevalence of CHI in Japan (2017–2030)

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