Homocystinuria Epidemiology Insight

DelveInsight’s ‘Homocystinuria (HCU) - Epidemiology Forecast to 2030’ report delivers an in-depth understanding of the disease, historical and forecasted HCU epidemiology in the 7MM, i.e., the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.


Geographies Covered

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

Study Period: 2017–2030


Homocystinuria (HCU) Understanding

HCU is an autosomal recessive inherited disorder of amino acid metabolism causing elevated plasma concentrations of homocysteine and its metabolites (homocysteine, homocysteine-cysteine complex), buildup in blood and urine. This buildup occurs when the body cannot properly process homocysteine or methionine, another amino acid. High levels of homocysteine and abnormal levels of methionine can cause many different symptoms in the body and lead to serious, lifelong health problems.


The cause of the buildup of homocysteine varies depending on the genetic disorder. Mutations in the CBS gene cause the most common form of HCU. Rarely, HCU can be caused by mutations in several other genes. The enzymes made by the MTHFR, MTR, MTRR, and MMADHC genes play roles in converting homocysteine to methionine. Among the different forms of HCU depending on the genetic disorder, the most common are HCU due to CBS deficiency, HCU due to cobalamin cofactor metabolism (cbl) defect, and HCU due to Methylenetetrahydrofolate Reductase (MTHFR) deficiency.


Symptoms associated with HCU vary depending on the severity of the case. The developmental delays, failure to thrive, and poor vision are some of the first signs that the condition is present and often it leads to the diagnosis of the disease. Other signs and symptoms may include abnormally long limbs, chest deformities, a high arch on the foot, mental disorders, and an abnormal curvature of the spine. The most common form of HCU is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones prone to fracture. Infants born with the disease often appear healthy at first, as symptoms are not obvious. As the patient reaches around the age of three years old, signs and symptoms begin to become more noticeable.


Homocystinuria (HCU) Diagnosis

Initial screening for HCU involves newborn screening to identify conditions that can affect a child’s long-term health or survival. Newborn screening for HCU specifically tests for methionine levels. Most children diagnosed through newborn screening have the pyridoxine-unresponsive form of HCU due to CBS deficiency. In affected patients, the presence of homocysteine in the urine is a consistent finding, especially after early infancy. CBS enzyme activity can be measured in many tissues, including fibroblasts, lymphocytes, liver, amniocytes, and chorionic villi (biopsy or cultured cells).


Blood plasma samples are usually tested for the presence of high homocysteine levels. The total homocysteine (tHcy) concentration is measured. A high amount of certain amino acids (homocysteine and methionine) in the blood and a high amount of homocysteine in the urine might indicate that they have HCU. The diagnosis may then be confirmed by genetic testing of the CBS gene and/or measurement of CBS enzyme activity in cultured fibroblasts.


The diagnosis of HCU is mainly done by Liver Enzyme Assay to check the level of liver enzymes in the blood, a homocysteine test measures the amount of homocysteine present in a person's blood, Imaging tests (Skeletal X-rays), Skin biopsy and Ophthalmic Exam. The doctor may also recommend a liver biopsy. The tissue is then analyzed in a laboratory to help doctors diagnose a variety of disorders. For the diagnosis of HCU in a person, the extracted tissue is used in an enzyme assay to check the enzyme activity.


Epidemiology Perspective by DelveInsight

The HCU epidemiology division provides insights about historical and current HCU patient pool and forecasted trends for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken.

Key Findings

  • In the year 2017, the total prevalent case of HCU was 41,684 cases in the 7MM, and the US, in 2017, accounted for 32,515 cases (the highest number), which will probably rise during the study period, i.e., 2017–2030.
  • In the 7MM, the total gender-specific prevalent cases of HCU were 6,952 for males and 7,178 for females in the year 2017.
  • In the 7MM, the total age-specific prevalent cases of HCU were 170, 975, 5,073, 6,486, and 1,427 cases for the age group less than 18 years, 18–34, 35–54, 55–74, and ≥75 years, respectively in 2017.
  • The disease epidemiology covered in the report provides historical as well as forecasted HCU epidemiology [segmented as Total Prevalent Cases of HCU,
  • Total Diagnosed Cases of HCU, Gender-specific Prevalent cases of HCU, Age-specific Prevalent Cases of HCU, and Treated cases of HCU] in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan from 2017 to 2030.

Country Wise- HCU Epidemiology

  • Estimates show that the highest cases of HCU in the 7MM were in the United States, followed by Germany, France, the United Kingdom, Italy, Spain, and Japan in 2017.
  • In the United States, the total number of prevalent cases of HCU was 32,515 cases in the year 2017 which are expected to grow during the study period, i.e., 2017–2030.
  • In the year 2017, the total prevalent cases of HCU were 8,537 cases in EU-5 which are expected to grow during the study period, i.e., 2017–2030.
  • In Japan, the total number of prevalent cases of HCU was 632 cases in the year 2017 which are expected to grow during the study period, i.e., 2017–2030.


Scope of the Report

  • The HCU report covers a detailed overview explaining its causes, symptoms, classification, pathophysiology, diagnosis, and treatment patterns.
  • The HCU Report and Model provide an overview of the risk factors and global trends of HCU in the seven major markets (7MM: The United States, Germany, France, Italy, Spain, and the United Kingdom, and Japan)
  • The report provides insight about the historical and forecasted patient pool of HCU in seven major markets covering the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.
  • The report helps to recognize the growth opportunities in the 7MM concerning the patient population.
  • The report assesses the disease risk and burden and highlights the unmet needs of HCU.
  • The report provides the segmentation of the HCU epidemiology by total prevalent cases in the 7MM.
  • The report provides the segmentation of the HCU epidemiology by total diagnosed cases in the 7MM.
  • The report provides the segmentation of the HCU epidemiology by gender-specific prevalent cases in the 7MM.
  • The report provides the segmentation of the HCU epidemiology by age-specific prevalent cases in the 7MM.
  • The report provides the segmentation of the HCU epidemiology by treated cases in the 7MM.


Report Highlights

  • 11-Year Forecast of HCU epidemiology
  • 7MM Coverage
  • Total Prevalent Cases of HCU
  • Total Diagnosed Cases of HCU
  • Gender-Specific Prevalent Cases of HCU
  • Age-Specific Prevalent Cases of HCU
  • Treated Cases of HCU


KOL-Views

We interview KOL’s and SME's opinion through primary research to fill the data gaps and validate our secondary research. The opinion helps to understand the total patient population and current treatment pattern. This will support the clients in potential upcoming novel treatment by identifying the overall scenario of the indications.


Key Questions Answered

  • What will be the growth opportunities in the 7MM concerning the patient population of HCU?
  • What are the key findings of the HCU epidemiology across the 7MM and which country will have the highest number of patients during the study period (2017–2030)?
  • What would be the total number of patients of HCU across the 7MM during the study period (2017–2030)?
  • Among the EU5 countries, which country will have the highest number of patients during the study period (2017–2030)?
  • At what CAGR the patient population is expected to grow in the 7MM during the study period (2017–2030)?
  • What are the various recent and upcoming events which are expected to improve the diagnosis of HCU?


Reasons to buy

The HCU Epidemiology report will allow the user to -

  • Develop business strategies by understanding the trends shaping and driving the global HCU market
  • Quantify patient populations in the global HCU market to improve product design, pricing, and launch plans
  • Organize sales and marketing efforts by identifying the gender that presents the best opportunities for HCU therapeutics in each of the markets covered
  • Understand the magnitude of HCU population by its severity
  • The HCU epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists
  • The HCU 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 an 11-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. Executive Summary of Homocystinuria (HCU)

3. SWOT Analysis of Homocystinuria (HCU)

4. Epidemiology Methodology

5. Homocystinuria (HCU): Disease Background and Overview

5.1. Introduction

5.2. Signs and Symptoms

5.2.1. Signs and symptoms of HCU due to CBS deficiency

5.2.2. Signs and symptoms of HCU due to cbl defect

5.2.3. Signs and symptoms of HCU due to MTHFR deficiency

5.3. Risk factor and causes

5.4. Genetics

5.5. Pathophysiology

6. Diagnosis of Homocystinuria (HCU)

6.1. Screening Tests for HCU

6.1.1. Newborn Screening Programs

6.1.2. Genetic Testing

6.1.3. Amino Acid Screening

6.1.4. Cyanide-Nitroprusside Test

6.2. Molecular Diagnosis

6.2.1. Antenatal Diagnosis

6.3. Tests to Diagnose HCU

6.3.1. Liver Biopsy and Enzyme Assay

6.3.2. Homocysteine Test

6.4. Other tests

6.4.1. Imaging Tests

6.4.2. Skin Biopsy

6.4.3. Ophthalmic Exams

6.5. Differential Diagnosis

7. Epidemiology and Patient Population

7.1. Epidemiology Key Findings

7.2. Assumptions and Rationale: 7MM

8. Epidemiology Scenario: 7MM

8.1. Total Prevalent Cases of HCU in the 7MM

8.2. Total Diagnosed Cases of HCU in the 7MM

8.3. Gender-specific Prevalent Cases of HCU in the 7MM

8.4. Age-specific Prevalent Cases of HCU in the 7MM

8.5. Treated Cases of HCU in the 7MM

9. The United States Epidemiology

9.1. Total Prevalent Cases of HCU in the United States

9.2. Total Diagnosed Cases of HCU in the United States

9.3. Gender-specific Prevalent Cases of HCU in the United States

9.4. Age-specific Prevalent Cases of HCU in the United States

9.5. Treated Cases of HCU in the United States

10. EU-5 Epidemiology

10.1. Germany

10.1.1. Total Prevalent Cases of HCU in Germany

10.1.2. Total Diagnosed Cases of HCU in Germany

10.1.3. Gender-specific Prevalent Cases of HCU in Germany

10.1.4. Age-specific Prevalent Cases of HCU in Germany

10.1.5. Treated Cases of HCU in Germany

10.2. France

10.2.1. Total Prevalent Cases of HCU in France

10.2.2. Total Diagnosed Cases of HCU in France

10.2.3. Gender-specific Prevalent Cases of HCU in France

10.2.4. Age-specific Prevalent Cases of HCU in France

10.2.5. Treated Cases of HCU in France

10.3. Italy

10.3.1. Total Prevalent Cases of HCU in Italy

10.3.2. Total Diagnosed Cases of HCU in Italy

10.3.3. Gender-specific Prevalent Cases of HCU in Italy

10.3.4. Age-specific Prevalent Cases of HCU in Italy

10.3.5. Treated Cases of HCU in Italy

10.4. Spain

10.4.1. Total Prevalent Cases of HCU in Spain

10.4.2. Total Diagnosed Cases of HCU in Spain

10.4.3. Gender-specific Prevalent Cases of HCU in Spain

10.4.4. Age-specific Prevalent Cases of HCU in Spain

10.4.5. Treated Cases of HCU in Spain

10.5. The United Kingdom

10.5.1. Total Prevalent Cases of HCU in the United Kingdom

10.5.2. Total Diagnosed Cases of HCU in the United Kingdom

10.5.3. Gender-specific Prevalent Cases of HCU in the United Kingdom

10.5.4. Age-specific Prevalent Cases of HCU in the United Kingdom

10.5.5. Treated Cases of HCU in the United Kingdom

11. Japan Epidemiology

11.1. Total Prevalent Cases of HCU in Japan

11.2. Total Diagnosed Cases of HCU in Japan

11.3. Gender-specific Prevalent Cases of HCU in Japan

11.4. Age-specific Prevalent Cases of HCU in Japan

11.5. Treated Cases of HCU in Japan

12. Appendix

12.1. Bibliography

12.2. Report Methodology

13. DelveInsight Capabilities

14. Disclaimer

15. About DelveInsight

List of Tables

Table 1: Summary of Homocystinuria (HCU) Epidemiology (2017–2030)

Table 2: Total Prevalent Cases of HCU in the 7MM (2017–2030)

Table 3: Total Diagnosed Cases of HCU in the 7MM (2017–2030)

Table 4: Gender-specific Prevalent Cases of HCU in the 7MM (2017–2030)

Table 5: Age-specific Prevalent Cases of HCU in the 7MM (2017–2030)

Table 6: Total Treated Cases of HCU in the 7MM (2017–2030)

Table 7: Total Prevalent Cases of HCU in the United States (2017–2030)

Table 8: Total Diagnosed Cases of HCU in the United States (2017–2030)

Table 9: Gender-specific Prevalent Cases of HCU in the United States (2017–2030)

Table 10: Age-specific Prevalent Cases of HCU in the United States (2017–2030)

Table 11: Treated Cases of HCU in the United States (2017–2030)

Table 12: Total Prevalent Cases of HCU in Germany (2017–2030)

Table 13: Total Diagnosed Cases of HCU in Germany (2017–2030)

Table 14: Gender-specific Prevalent Cases of HCU in Germany (2017–2030)

Table 15: Age-specific Prevalent Cases of HCU in Germany (2017–2030)

Table 16: Treated Cases of HCU in Germany (2017–2030)

Table 17: Total Prevalent Cases of HCU in France (2017–2030)

Table 18: Total Diagnosed Cases of HCU in France (2017–2030)

Table 19: Gender-specific Prevalent Cases of HCU in France (2017–2030)

Table 20: Age-specific Prevalent Cases of HCU in France (2017–2030)

Table 21: Treated Cases of HCU in France (2017–2030)

Table 22: Total Prevalent Cases of HCU in Italy (2017–2030)

Table 23: Total Diagnosed Cases of HCU in Italy (2017–2030)

Table 24: Gender-specific Prevalent Cases of HCU in Italy (2017–2030)

Table 25: Age-specific Prevalent Cases of HCU in Italy (2017–2030)

Table 26: Treated Cases of HCU in Italy (2017–2030)

Table 27: Total Prevalent Cases of HCU in Spain (2017–2030)

Table 28: Total Diagnosed Cases of HCU in Spain (2017–2030)

Table 29: Gender-specific Prevalent Cases of HCU in Spain (2017–2030)

Table 30: Age-specific Prevalent Cases of HCU in Spain (2017–2030)

Table 31: Treated Cases of HCU in Spain (2017–2030)

Table 32: Total Prevalent Cases of HCU in the United Kingdom (2017–2030)

Table 33: Total Diagnosed Cases of HCU in the United Kingdom (2017–2030)

Table 34: Gender-specific Prevalent Cases of HCU in the United Kingdom (2017–2030)

Table 35: Age-specific Prevalent Cases of HCU in the United Kingdom (2017–2030)

Table 36: Treated Cases of HCU in the United Kingdom (2017–2030)

Table 37: Total Prevalent Cases of HCU in Japan (2017–2030)

Table 38: Total Diagnosed Cases of HCU in Japan (2017–2030)

Table 39: Gender-specific Prevalent Cases of HCU in Japan (2017–2030)

Table 40: Age-specific Prevalent Cases of HCU in Japan (2017–2030)

Table 41: Treated Cases of HCU in Japan (2017–2030)

List of Figures

Figure 1: Homocystinuria (HCU) SWOT Analysis

Figure 2: Epidemiology Methodology

Figure 3: Progression of HCU

Figure 4: Signs and Symptoms of HCU due to CBS deficiency

Figure 5: Inheritance pattern of HCU

Figure 6: Homocysteine metabolism pathway

Figure 7: Pathophysiology of HCU

Figure 8: Diagnosis of Homocystinuria

Figure 9: Imaging test for HCU

Figure 10: Total Prevalent Cases of HCU in the 7MM (2017–2030)

Figure 11: Total Diagnosed Cases of HCU in the 7MM (2017–2030)

Figure 12: Gender-specific Prevalent Cases of HCU in the 7MM (2017–2030)

Figure 13: Age-specific Prevalent Cases of HCU in the 7MM (2017–2030)

Figure 14: Treated Cases of HCU in the 7MM (2017–2030)

Figure 15: Total Prevalent Cases of HCU in the United States (2017–2030)

Figure 16: Total Diagnosed Cases of HCU in the United States (2017–2030)

Figure 17: Gender-specific Prevalent Cases of HCU in the United States (2017–2030)

Figure 18: Age-specific Prevalent Cases of HCU in the United States (2017–2030)

Figure 19: Treated Cases of HCU in the United States (2017–2030)

Figure 20: Total Prevalent Cases of HCU in Germany (2017–2030)

Figure 21: Total Diagnosed Cases of HCU in Germany (2017–2030)

Figure 22: Gender-specific Prevalent Cases of HCU in Germany (2017–2030)

Figure 23: Age-specific Prevalent Cases of HCU in Germany (2017–2030)

Figure 24: Treated Cases of HCU in Germany (2017–2030)

Figure 25: Total Prevalent Cases of HCU in France (2017–2030)

Figure 26: Diagnosed Cases of HCU in France (2017–2030)

Figure 27: Gender-specific Prevalent Cases of HCU in France (2017–2030)

Figure 28: Age-specific Prevalent Cases of HCU in France (2017–2030)

Figure 29: Treated Cases of HCU in France (2017–2030)

Figure 30: Total Prevalent Cases of HCU in Italy (2017–2030)

Figure 31: Total Diagnosed Cases of HCU in Italy (2017–2030)

Figure 32: Gender-specific Prevalent Cases of HCU in Italy (2017–2030)

Figure 33: Age-specific Prevalent Cases of HCU in Italy (2017–2030)

Figure 34: Treated Cases of HCU in Italy (2017–2030)

Figure 35: Total Prevalent Cases of HCU in Spain (2017–2030)

Figure 36: Total Diagnosed Cases of HCU in Spain (2017–2030)

Figure 37: Gender-specific Prevalent Cases of HCU in Spain (2017–2030)

Figure 38: Age-specific Prevalent Cases of HCU in Spain (2017–2030)

Figure 39: Treated Cases of HCU in Spain (2017–2030)

Figure 40: Total Prevalent Cases of HCU in the United Kingdom (2017–2030)

Figure 41: Total Diagnosed Cases of HCU in the United Kingdom (2017–2030)

Figure 42: Gender-specific Prevalent Cases of HCU in the United Kingdom (2017–2030)

Figure 43: Age-specific Prevalent Cases of HCU in the United Kingdom (2017–2030)

Figure 44: Treated Cases of HCU in the United Kingdom (2017–2030)

Figure 45: Total Prevalent Cases of HCU in Japan (2017–2030)

Figure 46: Total Diagnosed Cases of HCU in Japan (2017–2030)

Figure 47: Gender-specific Prevalent Cases of HCU in Japan (2017–2030)

Figure 48: Age-specific Prevalent Cases of HCU in Japan (2017–2030)

Figure 49: Treated Cases of HCU in Japan (2017–2030)

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