22q112 Deletion Syndrome Market

DelveInsight’s ‘22q11.2 Deletion Syndrome - Market Insights, Epidemiology and Market Forecast—2030’ report delivers an in-depth understanding of the 22q11.2 Deletion Syndrome, historical and forecasted epidemiology as well as the 22q11.2 Deletion Syndrome market trends in the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

 

The 22q11.2 Deletion Syndrome market report provides emerging drugs, 22q11.2 Deletion Syndrome market share of the individual cancer types, current and forecasted 22q11.2 Deletion Syndrome market size from 2018 to 2030 segmented by seven major markets. The report also covers current 22q11.2 Deletion Syndrome market drivers, market barriers and unmet medical needs to curate best of the opportunities and assesses underlying potential of the market.

Geography Covered

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

Study Period: 2018–2030

22q11.2 Deletion Syndrome

22q11.2 Deletion Syndrome Overview

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.

 

22q11.2 Deletion Syndrome Diagnosis

The diagnosis of 22q11.2 Deletion Syndrome is suspected when clinical symptoms are present. The diagnosis of this syndrome can be difficult because it affects every person differently. Commonly used diagnostic methods may include blood tests, X-ray, multiplex ligation-dependent probe amplification (MLPA), echocardiography, Fluorescent in situ hybridization (FISH) studies, and chromosomal microarray.

 

22q11.2 Deletion Syndrome Treatment

Every patient with 22q11.2 Deletion Syndrome requires individualized medical treatments and procedures because of the variable and unique characteristics of the syndrome, even among affected patients from the same family. As the child’s genetic makeup cannot be changed, unfortunately, there is no cure for 22q11.2 Deletion Syndrome at present. However, many of its related health problems can be treated. Once a child is diagnosed, doctors will usually recommend that the child undergo evaluation in the areas that they know this chromosomal difference affects. Parents can help the child by seeking early care.

22q11.2 Deletion Syndrome Epidemiology

The 22q11.2 Deletion Syndrome epidemiology division provides the insights about historical and current 22q11.2 Deletion Syndrome 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 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.

22q11.2 Deletion Syndrome Drug Chapters

Drug chapter segment of the 22q11.2 Deletion Syndrome report encloses the detailed analysis of 22q11.2 Deletion Syndrome pipeline drugs. It also helps to understand the 22q11.2 Deletion Syndrome clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, advantages and disadvantages of each included drug and the latest news and press releases.

 

22q11.2 Deletion Syndrome Emerging Drugs

 

Zygel (ZYN002; Cannabidiol): Zynerba Pharmaceuticals

Zygel (ZYN002), developed by Zynerba Pharmaceuticals, is the first and only pharmaceutically produced Cannabidiol (CBD). Zygel is formulated as a patent-protected permeation-enhanced gel for transdermal delivery through skin and then into the circulatory system. Zynerba Pharmaceuticals is currently developing the Zygel in Phase II (ACTRN12619000673145; INSPIRE) of the clinical development in Children and Adolescents with 22q11.2 Deletion Syndrome. The trial is currently registered with the Australian New Zealand Clinical Trials Registry (ANZCTR).

 

RVT-802: Enzyvant/Roivant Sciences/Sumitomo Dainippon Pharma

RVT-802 is a one-time regenerative therapy and is a cultured human thymus tissue engineered to generate a functioning immune response when implanted in pediatric patients with congenital athymia. RVT-802 is a human thymus tissue that has been removed during pediatric cardiac surgery for unrelated conditions. In a healthy, functioning immune system, T cells that start as stem cells in the bone marrow become fully developed in the thymus. Currently, RVT-802 is being developed by Sumitomo Dainippon Pharma (Parent company of Sumitovant Biopharma for Pediatric Congenital Athymia) associated with multiple conditions, including complete DiGeorge Anomaly (cDGA).

 

Note: Detailed emerging therapies assessment will be provided in the final report.

22q11.2 Deletion Syndrome Market Outlook

Key Findings

The 22q11.2 Deletion Syndrome market size in the 7MM is expected to change during the forecast period (2021–2030), at a CAGR of 41.9%. According to the estimates, the highest market size of 22q11.2 Deletion Syndrome is found in the United States.

 

The United States Market Outlook

In United States, the total market size of 22q11.2 Deletion Syndrome is expected to increase at a CAGR of 43.9% during the study period (2018–2030).

 

EU-5 Countries: Market Outlook

In the EU-5 countries, the total market size of 22q11.2 Deletion Syndrome is expected to increase at a CAGR of 37.1% during the study period (2018–2030).

 

Japan: Market Outlook

In the Japan, the total market size of 22q11.2 Deletion Syndrome is expected to increase at a CAGR of 41.6% during the study period (2018–2030).

22q11.2 Deletion Syndrome Pipeline Development Activities

The drugs which are in pipeline include:

  • Zygel (ZYN002): Zynerba Pharmaceuticals
  • RVT-802: Enzyvant/Roivant Sciences/Sumitomo Dainippon Pharma

Note: Detailed emerging therapies assessment will be provided in the final report.

22q11.2 Deletion Syndrome Drugs Uptake

Analysts Insight

At present, like many other rare diseases, there is no cure for 22q11.2 Deletion Syndrome. It is worth mentioning that as a result of the early diagnosis in cases like heart and palate defects, evidence-based protocols can be followed in the early stages of diagnosis to improve the quality of life for children. In such cases, surgery is the major option. The major treatment challenge is seen in patients with psychopathologies (such as Autism, Anxiety disorders, Psychotic disorder [Schizophrenia], Attention deficit hyperactivity disorder [ADHD], and Mood Disorders). In such cases diagnosis is also a major challenge. Antidepressants, antipsychotics, and stimulants are used as off-label therapeutic choices to address all of the aforementioned behavioral and psychiatric traits. Behavioral therapy, on the other hand, is another important part of the treatment process. The pipeline for 22q11.2 Deletion Syndrome is not competitive, and if Zygel (ZYN002) gets approved by regulatory authorities in the coming years, the overall market size in the seven major markets is likely to grow, as there will be no expected competition.

Access and Reimbursement Scenario in 22q11.2 Deletion Syndrome

Children are born with this disorder, they require a lifetime of expenditure over diagnosis, treatment, and other supportive care. In a study by Peter et al. (2017), the average pediatric medical care cost associated with the diagnosis of 22q11.2 Deletion Syndrome in the general population was estimated to be USD 727,178. Costs were highest for patients ascertained prenatally (USD 2,599,955) or in the first year of life (USD 1,043,096), those with cardiac abnormalities or referred for cardiac evaluation (USD 751,535), and patients with low T‐cell counts (USD 1,382,222), presumably reflecting the fact that more severely affected cases are more likely to have come to attention early, and that they have a larger number of years of accumulated costs.

KOL-Views

To keep up with current market trends, we take KOLs and SME’s opinion working in 22q11.2 Deletion Syndrome domain through primary research to fill the data gaps and validate our secondary research. Their opinion helps to understand and validate current and emerging therapies treatment patterns o r22q11.2 Deletion Syndrome market trend. This will support the clients in potential upcoming novel treatment by identifying the overall scenario of the market and the unmet needs.

Competitive Intelligence Analysis

We perform Competitive and Market Intelligence analysis of the 22q11.2 Deletion Syndrome Market by using various Competitive Intelligence tools that includes – SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies etc. The inclusion of the analysis entirely depends upon the data availability.

Scope of the Report

  • The report covers the descriptive overview of 22q11.2 Deletion Syndrome, explaining its causes, signs and symptoms, pathophysiology, and currently available therapies.
  • Comprehensive insight has been provided into the 22q11.2 Deletion Syndrome epidemiology and treatment in the 7MM.
  • Additionally, an all-inclusive account of both the current and emerging therapies for 22q11.2 Deletion Syndrome is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.
  • A detailed review of 22q11.2 Deletion Syndrome market; historical and forecasted is included in the report, covering drug outreach in the 7MM.
  • The report provides an edge while developing business strategies, by understanding trends shaping and driving the global 22q11.2 Deletion Syndrome market.

Report Highlights

  • The companies and academics are working to assess challenges and seek opportunities that could influence 22q11.2 Deletion Syndrome R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition.
  • Major players are involved in developing therapies for 22q11.2 Deletion Syndrome. Launch of emerging therapies, will significantly impact the 22q11.2 Deletion Syndrome market.
  • Our in-depth analysis of the pipeline assets across different stages of development (Phase II), different emerging trends and comparative analysis of pipeline products with detailed clinical profiles, key cross-competition, and launch date along with product development activities will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the research and development activities.

22q11.2 Deletion Syndrome Report Insights

  • Patient Population
  • Therapeutic Approaches
  • 22q11.2 Deletion Syndrome Pipeline Analysis
  • 22q11.2 Deletion Syndrome Market Size and Trends
  • Market Opportunities
  • Impact of upcoming Therapies

22q11.2 Deletion Syndrome Report Key Strengths

  • 10 Years Forecast
  • 7MM Coverage
  • 22q11.2 Deletion Syndrome Epidemiology Segmentation
  • Highly Analyzed Market
  • Drugs Uptake

22q11.2 Deletion Syndrome Report Assessment

  • SWOT Analysis
  • Current Treatment Practices
  • Unmet Needs
  • Pipeline Product Profiles
  • Market Attractiveness
  • Market Drivers and Barriers

Key Questions

Market Insights:

  • What was the 22q11.2 Deletion Syndrome Market share (%) distribution in 2018 and how it would look like in 2030?
  • What would be the 22q11.2 Deletion Syndrome total market size as well as market size by therapies across the 7MM during the study period (2018–2030)?
  • What are the key findings pertaining to the market across the 7MM and which country will have the largest 22q11.2 Deletion Syndrome market size during the study period (2018–2030)?
  • At what CAGR, the 22q11.2 Deletion Syndrome market is expected to grow in the 7MM during the study period (2018–2030)?
  • What would be the 22q11.2 Deletion Syndrome market outlook across the 7MM during the study period (2018–2030)?
  • What would be the 22q11.2 Deletion Syndrome market growth till 2030 and what will be the resultant market size in the year 2030?
  • How would the market drivers, barriers and future opportunities affect the market dynamics and a subsequent analysis of the associated trends?
  • 22q11.2 Deletion Syndrome patient types/pool where unmet need is more and whether emerging therapies will be able to address the residual unmet need?
  • How emerging therapies are performing on the parameters like efficacy, safety, route of administration (RoA), treatment duration and frequencies on the basis of their clinical trial results?
  • Among the emerging therapies, what are the potential therapies which are expected to disrupt the 22q11.2 Deletion Syndrome market?

 

Epidemiology Insights:

  • What is the challenges and unmet needs of the 22q11.2 Deletion Syndrome?
  • What is the historical 22q11.2 Deletion Syndrome patient pool in the seven major markets covering the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan?
  • What would be the forecasted patient pool of 22q11.2 Deletion Syndrome in the 7 major markets covering the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan?
  • What will be the growth opportunities in the 7MM with respect to the patient population pertaining to 22q11.2 Deletion Syndrome?
  • Out of all the 7MM countries, which country would have the highest prevalent population of 22q11.2 Deletion Syndrome during the study period (2018–2030)?
  • At what CAGR the 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 uptake of 22q11.2 Deletion Syndrome?

 

Current Treatment Scenario and Emerging Therapies:

  • What are the current treatment guidelines for the treatment of 22q11.2 Deletion Syndrome in the US, Europe and Japan?
  • How many companies are developing drugs for 22q11.2 Deletion Syndrome?
  • How many drugs for 22q11.2 Deletion Syndrome are developed by each company?
  • How many emerging therapies are in mid stage, and late stage of development?
  • What are the key collaborations (Industry–Industry, Industry–Academia), Mergers and acquisitions, licensing activities related to the 22q11.2 Deletion Syndrome?
  • What are the recent novel therapies, targets, mechanisms of action and technologies developed to overcome the limitation of existing therapies?
  • What are the clinical studies going on for 22q11.2 Deletion Syndrome and their status?
  • What are the key designations that have been granted for the emerging therapies for 22q11.2 Deletion Syndrome?
  • What is the global historical and forecasted market of 22q11.2 Deletion Syndrome?

Reasons to buy

  • The report will help in developing business strategies by understanding trends shaping and driving the 22q11.2 Deletion Syndrome market.
  • To understand the future market competition in the 22q11.2 Deletion Syndrome market and Insightful review of the key market drivers and barriers.
  • Organize sales and marketing efforts by identifying the best opportunities for 22q11.2 Deletion Syndrome in the US, Europe (Germany, France, Italy, Spain, and the United Kingdom) and Japan.
  • Identification of strong upcoming players in market will help in devising strategies that will help in getting ahead of competitors.
  • Organize sales and marketing efforts by identifying the best opportunities for 22q11.2 Deletion Syndrome market.
  • To understand the future market competition in the 22q11.2 Deletion Syndrome market.

1. Key Insights

2. Report Introduction

3. 22q11.2 Deletion Syndrome Market Overview at a Glance: By Therapies (in the 7MM)

3.1. Total Market Share (%) Distribution: in 2018

3.2. Total Market Share (%) Distribution: in 2030

4. Executive Summary of 22q11.2 deletion syndrome

4.1. Key Events

5. Epidemiology and Market Forecast Flow

6. Disease Background and Overview

6.1. Introduction

6.2. Cause and Inheritance

6.3. Signs and Symptoms

6.4. Complications

6.5. Pathophysiology

6.6. Diagnosis

6.6.1. Differential Diagnosis

7. Current Treatment

7.1. Treatment Guidelines

7.1.1. Practical Guidelines for Managing Adults with 22q11.2 Deletion Syndrome

7.1.2. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines

8. Epidemiology and Patient Population

8.1. Key Findings

8.2. Assumptions and Rationale

8.3. Epidemiology Scenario (7MM)

8.3.1. Total prevalent cases of 22q11.2 deletion syndrome in the 7MM

8.3.2. Total diagnosed prevalent cases of 22q11.2 deletion syndrome in the 7MM

8.3.3. Total diagnosed prevalent cases of 22q11.2 deletion syndrome by age group in the 7MM

8.3.4. Total diagnosed prevalent cases of 22q11.2 deletion syndrome with Behavioral and Psychiatric in the 7MM

8.3.5. Total treated cases of 22q11.2 deletion syndrome with behavioral and psychiatric phenotypes in the 7MM   

9. Patient Journey

10. Key Endpoints for 22q11.2 Deletion syndrome Clinical Trials

11. Emerging Therapies

11.1. Zygel (ZYN002; Cannabidiol): Zynerba Pharmaceuticals

11.1.1. Product Description

11.1.2. Other development Activities

11.1.3. Clinical Development

11.2. RVT-802: Enzyvant/Roivant Sciences/Sumitomo Dainippon Pharma

11.2.1. Product Description

11.2.2. Other Development Activities

11.2.3. Clinical Development

11.2.4. Safety and Efficacy

12. 22q11.2 Deletion Syndrome: 7 Major Market Analysis

12.1. Key Findings

12.2. Market Outlook

12.3. Market Size of 22q11.2 Deletion Syndrome

12.3.1. Total Market Size of 22q11.2 Deletion Syndrome

12.3.2. Market Size of 22q11.2 Deletion Syndrome by Therapies

13. Market Access and Reimbursement

13.1. Future Therapy Assessment

14. Market Drivers

15. Market Barriers

16. SWOT Analysis

17. Unmet Needs

18. Appendix

18.1. Bibliography

18.2. Report Methodology

19. DelveInsight Capabilities

20. Disclaimer

21. About DelveInsight

List of Table

Table 1: Summary of 22q11.2 deletion syndrome: Market, Epidemiology, and Key Events (2018–2030)

Table 2: Treatment of Manifestations in Individuals with 22q11.2 Deletion Syndrome

Table 3: Recommended Surveillance for Individuals with 22q11.2 Deletion Syndrome

Table 4: General Recommendations for Prenatal and Perinatal Care of Adults With 22q11.2 Deletion Syndrome

Table 5: Genetic Counseling Strategies for Adults With 22q11.2 Deletion Syndrome With Intellectual Disabilities and/or Psychotic Illness

Table 6: Recommendations for investigation, management and referral

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

Table 8: Total diagnosed prevalent cases of 22q11.2 deletion syndrome in the 7MM (2018–2030)

Table 9: Total diagnosed prevalent cases of 22q11.2 deletion syndrome in the 7MM (2018–2030)

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

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

Table 12: Zygel (ZYN002; Cannabidiol), Clinical Trial Description, 2021

Table 13: RVT-802; Clinical Trial Description, 2021

Table 14: 7MM Market Size of 22q11.2 deletion syndrome in USD Million (2018–2030)

Table 15: 7MM Market Size of 22q11.2 deletion syndrome by Therapies in USD Million (2018–2030)

Table 16: The United States Market Size of 22q11.2 deletion syndrome by Therapies in USD Million (2018–2030)

Table 17: EU-5 Market Size of 22q11.2 deletion syndrome by Therapies in USD Million (2018–2030)

Table 18: Japan Market Size of 22q11.2 deletion syndrome by Therapies in USD Million (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: Change in Health Concerns With Age

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

Figure 9: Total diagnosed prevalent cases of 22q11.2 deletion syndrome in the 7MM (2018–2030)

Figure 10: Total diagnosed prevalent cases of 22q11.2 deletion syndrome by age group in the 7MM (2018–2030)

Figure 11: Total diagnosed prevalent cases of 22q11.2 deletion syndrome with behavioral and psychiatric phenotypes in the 7MM (2018–2030)

Figure 12: Total treated cases of 22q11.2 deletion syndrome with behavioral and psychiatric phenotypes in the 7MM (2018–2030)

Figure 13: Market Size of 22q11.2 deletion syndrome in the 7MM, USD Million (2018–2030)

Figure 14: 7MM Market Size of 22q11.2 deletion syndrome by Therapies in USD Million (2018–2030)

Zynerba Pharmaceuticals
Enzyvant
Roivant Sciences
Sumitomo Dainippon Pharma

 

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