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22q112 Deletion Syndrome Epidemiology Forecast

DelveInsight’s ‘22q11.2 Deletion Syndrome Epidemiology Forecast to 2030’ report delivers an in-depth understanding of the disease, historical and forecasted 22q11.2 Deletion Syndrome 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: 2018–2030

22q11.2 Deletion Syndrome Understanding

The human genome, similar to the genomes of all other living animals, is a collection of long polymers of deoxyribonucleic acid (DNA). Human DNA comprises about 3 billion bases, and all human beings are 99.9% identical in their genetic makeup. Differences in the remaining 0.1% hold important clues about the causes of various diseases. DNA is the hereditary material in humans and almost all other organisms. The human genome includes the coding regions of DNA, which encode all the genes (between 20,000 and 25,000) of the human organism, as well as the noncoding regions of DNA, which do not encode any genes. By 2003 the DNA sequence of the complete human genome was identified under the Human Genome Project (Judith L. Fridovich-Keil, n.d.)

 

When there is an alteration in whole or in part in the DNA sequence away from the normal sequence, a genetic disorder is caused. Genetic disorders can be caused by a mutation in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination of gene mutations and environmental factors, or by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes). There are certain diseases caused by mutations that are inherited from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person’s life. Such mutations are not inherited from a parent but occur either randomly or due to some environmental exposure (such as cigarette smoke) (National Human Genome Research Institute [NHGRI], 2018).

 

One such genetic condition is 22q11.2 Deletion Syndrome which develops due to some chromosome defects. 22q11.2 Deletion Syndrome is a complex, multi-organ disorder noted for its varying severity and penetrance among those affected. As per several studies, it is the most common chromosomal microdeletion reported in humans. The term 22q11.2 Deletion Syndrome covers terms once thought to be distinct conditions, including DiGeorge syndrome, velocardiofacial syndrome, and other disorders that have the same genetic cause, though features may vary to some extent.

Epidemiology Perspective by DelveInsight

The 22q11.2 Deletion Syndrome epidemiology division provides the insights about historical and current indication wise eligible patient pool and forecasted trend for each 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

The disease epidemiology covered in the report provides historical as well as forecasted 22q11.2 Deletion Syndrome epidemiology [segmented as Total Prevalent cases of 22q11.2 Deletion Syndrome, Total Diagnosed Prevalent Cases of 22q11.2 Deletion Syndrome, Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome by age group, Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome with Behavioral and Psychiatric phenotypes, and Total treated cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes scenario of 22q11.2 Deletion Syndrome in the 7MM covering United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan from 2018 to 2030.

Country Wise- 22q11.2 Deletion Syndrome Epidemiology

  • In 2020, the total prevalent cases of 22q11.2 Deletion Syndrome were 196,476 in the 7MM. The United States, in the same year, accounted for 83,326 cases, the highest prevalence of 22q11.2 Deletion Syndrome cases in the 7MM, accounting for approximately 42% of the total 7MM cases in 2020.
  • Among the EU-5 countries, the highest number of cases of 22q11.2 Deletion Syndrome were in Germany and the least in Spain in 2020.
  • 22q11.2 Deletion Syndrome is often underdiagnosed and misdiagnosed, as the symptoms vary from patient to patient. In the EU-5 countries, the total diagnosed prevalent cases of 22q11.2 Deletion Syndrome were 35,203 in 2020.
  • In the year 2020, Japan accounted for 1,409, 1,160, 2,196, 582, and 850 cases for the age groups Infant, 1–5, 6–12,  13–17, and ≥18 years, respectively, for 22q11.2 Deletion Syndrome which are expected to rise during the forecast period.
  • 22q11.2 Deletion Syndrome is a multisystem disorder characterized by several physical, behavioral and psychiatric disorders. In the 7MM, of the focused age-group 6 to 12 and 13 to 17 years, the diagnosed prevalent cases of 22q11.2 Deletion Syndrome with Behavioral and Psychiatric Phenotypes were 36,702, in 2020.

Scope of the Report

  • The 22q11.2 Deletion Syndrome report covers a detailed overview explaining its causes, symptoms, and pathophysiology, diagnosis, and treatment patterns.
  • The 22q11.2 Deletion Syndrome Report and Model provide an overview of the risk factors and global trends of 22q11.2 Deletion Syndrome in the seven major markets (7MM: United States, Germany, France, Italy, Spain, and the United Kingdom, and Japan)
  • The report provides insight about the historical and forecasted patient pool of 22q11.2 Deletion Syndrome 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 with respect to the patient population.
  • The report assesses the disease risk and burden and highlights the unmet needs of 22q11.2 Deletion Syndrome.
  • The report provides the segmentation of the 22q11.2 Deletion Syndrome epidemiology by total prevalent cases in the 7MM.
  • The report provides the segmentation of the 22q11.2 Deletion Syndrome epidemiology by diagnosed prevalent cases in the 7MM.
  • The report provides the segmentation of the 22q11.2 Deletion Syndrome epidemiology by age-specific diagnosed prevalent cases in the 7MM.
  • The report provides the segmentation of the 22q11.2 Deletion Syndrome epidemiology by behavioral and psychiatric phenotypes diagnosed prevalent cases in the 7MM.
  • The report provides the segmentation of the 22q11.2 Deletion Syndrome epidemiology by treated cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes in the 7MM.

Report Highlights

  • 10-Year Forecast of 22q11.2 Deletion Syndrome epidemiology
  • 7MM Coverage
  • Epidemiology segmentation

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 with respect to the patient population pertaining to 22q11.2 Deletion Syndrome?
  • What are the key findings pertaining to the 22q11.2 Deletion Syndrome epidemiology across the 7MM and which country will have the highest number of prevalent cases of 22q11.2 Deletion Syndrome during the study period (2018–2030)?
  • What would be the total number of patients of 22q11.2 Deletion Syndrome across the 7MM during the study period (2018–2030)?
  • Among the EU5 countries, which country will have the highest number of patients during the study period (2018–2030)?
  • At what CAGR the patient population is expected to grow in the 7MM during the study period (2018–2030)?
  • What are the various recent and upcoming events which are expected to improve the diagnosis of 22q11.2 Deletion Syndrome?

Reasons to buy

  • The 22q11.2 Deletion Syndrome Epidemiology report will allow the user to -
  • Develop business strategies by understanding the trends shaping and driving the global 22q11.2 Deletion Syndrome market
  • Quantify patient populations in the global 22q11.2 Deletion Syndrome market to improve product design, pricing, and launch plans
  • Organize sales and marketing efforts by identifying the age groups that present the best opportunities for 22q11.2 Deletion Syndrome therapeutics in each of the markets covered
  • The 22q11.2 Deletion Syndrome epidemiology report and model were written and developed by Masters and PhD level epidemiologists
  • The 22q11.2 Deletion Syndrome Epidemiology Model developed by DelveInsight is easy to navigate, interactive with dashboards, and epidemiology based with transparent and consistent methodologies. Moreover, the model supports data presented in the report and showcases disease trends over 10-year forecast period using reputable sources

Key Assessments

  • Patient Segmentation
  • Disease Risk and Burden
  • Factors driving growth in a specific patient population

1. Key Insights

2. Report Introduction

3. Executive Summary of 22q11.2 Deletion Syndrome

3.1. Key Events

4. Epidemiology Forecast Flow

5. Disease Background and Overview

5.1. Introduction

5.2. Cause and Inheritance

5.3. Signs and Symptoms

5.4. Complications

5.5. Pathophysiology

5.6. Diagnosis

5.6.1. Differential Diagnosis

6. Epidemiology and Patient Population

6.1. Key Findings

6.2. Assumptions and Rationale

6.3. Epidemiology Scenario (7MM)

6.3.1. Total prevalent cases of 22q11.2 Deletion Syndrome in the 7MM

6.3.2. Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome in the 7MM

6.3.3. Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome by age group in the 7MM

6.3.4. Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome with Behavioral and Psychiatric in the 7MM

6.3.5. Total treated cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes in the 7MM   

7. Patient Journey

8. Appendix

8.1. Bibliography

8.2. Report Methodology

9. DelveInsight Capabilities

10. Disclaimer

11. About DelveInsight

List of Table

Table 1: Summary of 22q11.2 Deletion Syndrome:  Epidemiology, and Key Events (2018–2030)

Table 2: Total prevalent cases of 22q11.2 Deletion Syndrome in the 7MM (2018–2030)

Table 3: Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome in the 7MM (2018–2030)

Table 4: Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome in the 7MM (2018–2030)

Table 5: Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes in the 7MM (2018–2030)

Table 6: Total treated cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes in the 7MM (2018–2030)

List of Figures

Figure 1: Genetic Mutations in 22q11.2 Deletion Syndrome

Figure 2: De Novo Deletion of 22q11 Deletion Syndrome

Figure 3: 22q11 Deletion Syndrome Inherited From a Parent

Figure 4: 22q11 deletion syndrome (22q11DS) Nomenclature

Figure 5: Signs and Symptoms of 22q11.2 Deletion Syndrome

Figure 6: Diagram of Two Different Types of Meiotic Nonallelic Homologous Recombination Events That Can Occur Between Low Copy Repeats on Chromosome 22 (LCR22s)

Figure 7: Total prevalent cases of 22q11.2 Deletion Syndrome in the 7MM (2018–2030)

Figure 8: Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome in the 7MM (2018–2030)

Figure 9: Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome by age group in the 7MM (2018–2030)

Figure 10: Total diagnosed prevalent cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes in the 7MM (2018–2030)

Figure 11: Total treated cases of 22q11.2 Deletion Syndrome with behavioral and psychiatric phenotypes in the 7MM (2018–2030)

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