Hunter Syndrome Epidemiology Forecast

DelveInsight’s ‘Hunter Syndrome - Epidemiology Forecast–2030’ report delivers an in-depth understanding of the disease, historical and forecasted Hunter Syndrome 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

Hunter Syndrome Understanding

Hunter syndrome is also known as Mucopolysaccharidosis type II (MPS II). It is a condition that affects many different parts of the body and mainly affects males. It is a progressive disorder, but the rate of progression varies among affected individuals. It is a rare, X-linked disorder caused due to a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which plays a major role in the catabolism of glycosaminoglycans (GAG). In patients with mucopolysaccharidosis II, glycosaminoglycans accumulate within tissues and organs, contributing to the signs and symptoms of the disease. Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression. Common presenting features include excess urinary glycosaminoglycan excretion, facial dysmorphism, organomegaly, joint stiffness and contractures, pulmonary dysfunction, myocardial enlargement and valvular dysfunction, and neurologic involvement. In patients with neurologic involvement, intelligence is impaired, and death usually occurs in the second decade of life, whereas those patients with minimal or no neurologic involvement may survive into adulthood with normal intellectual development.


At birth, individuals with MPS II do not display any features of the condition. The vast majority of affected individuals are male; however, on rare occasions, heterozygous females’ manifest findings. In those with early progressive disease, CNS involvement (manifest primarily by progressive cognitive deterioration), progressive airway disease, and cardiac disease usually result in death in the first or second decade of life. In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. Survival into the early adult years with normal intelligence is common in the slowly progressing form of the disease. Additional findings in both forms of MPS II include short stature; macrocephaly with or without communicating hydrocephalus, macroglossia, hoarse voice, conductive and sensorineural hearing loss, hepatosplenomegaly, dysostosis multiplex, spinal stenosis, and carpal tunnel syndrome. Generally, between ages 2–4, affected individuals develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open.


Children with MPS II grow steadily until about the age of five, and then the growth slows, and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on X-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs.


There are two types of MPS II, called severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with severe form begin to lose basic functional skills (developmentally regress) between the ages of 6–8. The life expectancy of these individuals is 10–20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood, and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.

Hunter Syndrome 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 Hunter Syndrome and Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the 7MM market covering the United States, EU5 countries (Germany, France, Italy, Spain, and United Kingdom) and Japan from 2017 to 2030.

Hunter Syndrome Detailed Epidemiology Segmentation

  • The total diagnosed prevalent population of Hunter Syndrome in the 7 major markets was found to be 1,145 in 2017. In case of Hunter Syndrome patients in the United States, the diagnosed prevalent cases were found to be 503 in 2017. 
  • In the EU5 countries the diagnosed prevalence of Hunter Syndrome was found to be maximum in Germany with 83 cases, followed by the United Kingdom with 68 cases in 2017. While, the least number of cases were found in Spain, in 2017. The trend is expected to increase during the forecast period.
  • In Japan, the diagnosed prevalence of Hunter Syndrome was found to be 309 in 2017, resulting into the second highest after the US across the 7MM. MPS II is very common in Asian countries, such as Japan, Korea, China, and Taiwan.

Scope of the Report

  • The report covers the descriptive overview of Hunter Syndrome, 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 Hunter Syndrome.
  • The report provides the segmentation of the disease epidemiology for the 7MM by Total Diagnosed Prevalent Population of Hunter Syndrome and Severity-based Diagnosed Prevalent Population of Hunter Syndrome.

Report Highlights

  • Eleven Year Forecast of Hunter Syndrome
  • 7MM Coverage 
  • Total Diagnosed Prevalent Population of Hunter Syndrome 
  • DelveInsight has also analyzed severity-sepecific diagnosed prevalence of Hunter Syndrome. Hunter Syndrome can be divided based on severity, namely, severe type (early-onset) and mild type (late). Severe MPS II onset is typically at 2–4 years of age has profound neurological problems and cognitive impairment by the age of 6 years, and death within the first two decades of life. While the ‘attenuated’ or mild phenotype may be associated with somatic features, patients with it generally have slight neurological involvement, are of normal intelligence, and usually survive into adulthood.

Key Questions Answered

  • What is the disease risk, burden and unmet needs of Hunter Syndrome?
  • What is the historical Hunter Syndrome patient pool in the United States, EU5 (Germany, France, Italy, Spain, and the UK) and Japan?
  • What would be the forecasted patient pool of Hunter Syndrome at the 7MM level?
  • What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Hunter Syndrome?
  • Out of the above-mentioned countries, which country would have the highest prevalent population of Hunter Syndrome 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 Hunter Syndrome report will allow the user to -

  • Develop business strategies by understanding the trends shaping and driving the 7MM Hunter Syndrome market.
  • Quantify patient share distribution in the 7MM for Hunter Syndrome. 
  • The Hunter Syndrome epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists.
  • The Hunter Syndrome 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. Hunter Syndrome Overview at a Glance

3. Disease Background and Overview: Hunter Syndrome

3.1. Introduction

3.2. Classification of Mucopolysaccharidosis

3.3. Clinical Characteristics of Hunter Syndrome

3.3.1. Growth

3.3.2. Eye

3.3.3. Ear, Nose, Throat

3.3.4. Joints/Skeletal

3.3.5. Respiratory

3.3.6. Cardiovascular

3.3.7. Gastrointestinal

3.3.8. Nervous System

3.3.9 .Endocrine

3.4. Molecular Genetics

3.4.1. Gene structure

3.4.2. Pathogenic variants

3.4.3. Normal gene product

3.4.4. Abnormal gene product

3.5. Symptoms

3.6. Complications and risk factors

3.7. Diagnosis

3.7.1. Urinary GAG excretion

3.7.2. Enzyme activity

3.7.3. Genetic testing

3.7.4. Preimplantation genetic diagnosis and prenatal testing

3.7.5. Establishing the Diagnosis

3.8. Differential diagnosis

4. Diagnostic Algorithm for Hunter Syndrome

5. Epidemiology and Patient Population

5.1. Key Findings

5.2. 7MM Total Diagnosed Prevalent Population of Hunter Syndrome

6. Country-Wise Epidemiology of Hunter Syndrome

6.1. United States

6.1.1. Assumptions and Rationale

6.1.2. Total Diagnosed Prevalent Population of Hunter Syndrome in the United States

6.1.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the United States

6.2. EU5 Countries

6.3. Germany

6.3.1. Assumptions and Rationale

6.3.2. Total Diagnosed Prevalent Population of Hunter Syndrome in Germany

6.3.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Germany

6.4. France

6.4.1. Assumptions and Rationale

6.4.2. Total Diagnosed Prevalent Population of Hunter Syndrome in France

6.4.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in France

6.5. Italy

6.5.1. Assumptions and Rationale

6.5.2. Total Diagnosed Prevalent Population of Hunter Syndrome in Italy

6.5.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Italy

6.6. Spain

6.6.1. Assumptions and Rationale

6.6.2. Total Diagnosed Prevalent Population of Hunter Syndrome in Spain

6.6.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Spain

6.7. United Kingdom

6.7.1. Assumptions and Rationale

6.7.2. Total Diagnosed Prevalent Population of Hunter Syndrome in the United Kingdom

6.7.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the United Kingdom

6.8. Japan

6.8.1. Assumptions and Rationale

6.8.2. Total Diagnosed Prevalent Population of Hunter Syndrome in Japan

6.8.3. Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Japan

7. Appendix

7.1. Bibliography

7.2. Report Methodology

8. DelveInsight Capabilities

9. Disclaimer

10. About DelveInsight

List of Table

Table 1: Types of Mucopolysaccharidosis

Table 2: Frequency of the different types of variants reported for the IDS gene

Table 3: Molecular Genetic Testing Used in Hunter Syndrome

Table 4: Total Diagnosed Prevalent Population of Hunter Syndrome in the 7MM (2017–2030)

Table 5: Total Diagnosed Prevalent Population of Hunter Syndrome in the United States (2017–2030)

Table 6: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the United States (2017–2030)

Table 7: Type-specific Diagnosed Prevalence of Hunter Syndrome in Germany (2017–2030)

Table 8: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Germany (2017–2030)

Table 9: Total Diagnosed Prevalent Population of Hunter Syndrome in France (2017–2030)

Table 10: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in France (2017–2030)

Table 11: Total Diagnosed Prevalent Population of Hunter Syndrome in Italy (2017–2030)

Table 12: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Italy (2017–2030)

Table 13: Total Diagnosed Prevalent Population of Hunter Syndrome in Spain (2017–2030)

Table 14: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Spain (2017–2030)

Table 15: Total Diagnosed Prevalent Population of Hunter Syndrome in the United Kingdom (2017–2030)

Table 16: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the United Kingdom (2017–2030)

Table 17: Total Diagnosed Prevalent Population Prevalence of Hunter Syndrome in Japan (2017–2030)

Table 18: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Japan (2017–2030)

List of Figures

Figure 1: Symptoms of Hunter Syndrome

Figure 2: Diagnostic Algorithm for Hunter Syndrome

Figure 3: Total Diagnosed Prevalent Population of Hunter Syndrome in the 7MM (2017–2030)

Figure 4: Total Diagnosed Prevalent Population of Hunter Syndrome in the United States (2017–2030)

Figure 5: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the United States (2017–2030)

Figure 6: Total Diagnosed Prevalent Population of Hunter Syndrome in Germany (2017–2030)

Figure 7: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Germany (2017–2030)

Figure 8: Total Diagnosed Prevalent Population of Hunter Syndrome in France (2017–2030)

Figure 9: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in France (2017–2030)

Figure 10: Total Diagnosed Prevalent Population of Hunter Syndrome in Italy (2017–2030)

Figure 11: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Italy (2017–2030)

Figure 12: Total Diagnosed Prevalent Population of Hunter Syndrome in Spain (2017–2030)

Figure 13: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Spain (2017–2030)

Figure 14: Total Diagnosed Prevalent Population of Hunter Syndrome in the United Kingdom (2017–2030)

Figure 15: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in the United Kingdom (2017–2030)

Figure 16: Total Diagnosed Prevalent Population of Hunter Syndrome in Japan (2017–2030)

Figure 17: Severity-based Diagnosed Prevalent Population of Hunter Syndrome in Japan (2017–2030)

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