22q11.2 Deletion Syndrome - Market Insight, Epidemiology, and Market Forecast - 2034

Key Highlights:

• The United States accounts for the largest 22q11.2 deletion syndrome market size, in comparison to EU4 (Germany, Spain, Italy, France), the United Kingdom, and Japan.
• 22q11.2 Deletion Syndrome is a condition that develops because of chromosome defects and 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.
• This condition is also known by several other names, including DiGeorge Syndrome, Velocardiofacial Syndrome, Conotruncal anomaly face syndrome (CTAF), and others.
• 22q11.2 Deletion Syndrome results from a missing piece of chromosome 22 at q11.2 and is characterized by varying severity and penetrance. In most cases, it occurs as a de novo deletion during conception, while in around 10% of cases, it's inherited from a parent with DiGeorge syndrome.
• 22q11.2 Deletion Syndrome is a common chromosomal microdeletion disorder, known by various names including DiGeorge Syndrome and Velocardiofacial Syndrome.
• The market is anticipated to witness a substantial positive shift owing to better uptake of existing drugs, the expected market launch of therapies, and raised awareness.
• This microdeletion is associated with 185 conditions that can affect nearly every system in the body. As a result, the disorder can cause several errors during fetal development. Common problems may include abnormalities of the heart, developmental delays, psychiatric disorders, hypoparathyroidism, hypocalcemia, thymus gland dysfunction, autoimmune disorders, and several others.
• The diagnosis of 22q11.2 deletion syndrome can be difficult because it affects every person differently. Commonly used diagnostic methods may include blood tests, X-rays, multiplex ligation-dependent probe amplification (MLPA), echocardiography, Fluorescent in situ hybridization (FISH) studies, and chromosomal microarray.
• The treatment for 22q11.2 deletion syndrome is complex as there exists no cure for 22q11.2 deletion syndrome, and there are no treatments known to slow or reverse its process. However, many of its related health problems can be treated. Once the child's medical and developmental problems are pinpointed, doctors can help develop plans to manage them and help the child live as healthy a life as possible.
• Currently, there are no approved therapies for the treatment of 22q11.2 Deletion Syndrome. Moreover, the pipeline is also not so robust but possesses one potential drug i.e Zygel (ZYN002; Cannabidiol).

DelveInsight's "22q11.2 Deletion Syndrome Market Insights, Epidemiology and Market Forecast - 2034" report delivers an in-depth understanding of 22q11.2 Deletion Syndrome, historical and forecasted epidemiology as well as the 22q11.2 Deletion Syndrome market trends in the United States, EU4 (Germany, Spain, Italy, and France) and the United Kingdom, and Japan.

22q11.2 Deletion Syndrome market report provides real-world prescription pattern analysis, emerging drugs, market share of individual therapies, and historical and forecasted 7MM 22q11.2 Deletion Syndrome market size from 2020 to 2034. The report also covers current 22q11.2 Deletion Syndrome treatment practices/algorithms and unmet medical needs to curate the best opportunities and assess the market's underlying potential.

Geography Covered:

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

22q11.2 Deletion Syndrome Treatment Market

22q11.2 Deletion Syndrome Overview, Country-Specific Treatment Guidelines and Diagnosis

22q11.2 deletion syndrome, the most common chromosomal microdeletion in humans, encompasses several conditions previously thought to be distinct, including DiGeorge syndrome and velocardiofacial syndrome. It is also known by various other names, such as 22q11.2 deletion syndrome, Chromosome 22q11.2 deletion syndrome, autosomal dominant Opitz G/BBB syndrome, CATCH22, Cayler cardiofacial syndrome, Conotruncal anomaly face syndrome (CTAF), Deletion 22q11.2 syndrome, DiGeorge syndrome, Sedlackova syndrome, Shprintzen syndrome, Velo-cardio-facial syndrome (VCFS), VCFS, Velocardiofacial syndrome.

22q11.2 deletion syndrome can be difficult to diagnose because it affects each person differently. Sometimes a baby may be suspected to have this condition when they are born with multiple congenital disabilities. Other times, babies are diagnosed with this condition after an abnormal newborn screen suggests a possible immunodeficiency. Older children and adults may be diagnosed later in life due to more mild features of this condition or by having a more seriously affected child.

Commonly used tests for diagnosis include Blood tests, X-rays, MLPA, Echocardiography, and Fluorescent in situ hybridization (FISH).

22q11.2 Deletion Syndrome Treatment

Individualized medical treatments and procedures are essential for every patient with 22q11.2 deletion syndrome due to the syndrome's variable characteristics, even within the same family. While there's currently no cure, many associated health issues can be treated. Early evaluation and intervention are crucial, allowing doctors to develop tailored management plans. Treatment depends on the child's symptoms, age, and overall health, often involving a team of specialists to address various aspects of the syndrome.

22q11.2 Deletion Syndrome Epidemiology

The 22q11.2 Deletion Syndrome epidemiology chapter in the report provides historical as well as forecasted in the 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain), the United Kingdom, and Japan from 2024 to 2034. The 22q11.2 Deletion Syndrome epidemiology is segmented with detailed insights into total prevalent cases, total diagnosed cases of 22q11.2 deletion syndrome, total diagnosed cases by age group, total diagnosed cases with behavioral and psychiatric, total treated cases with behavioral and psychiatric phenotypes of 22q11.2 deletion syndrome

• In 2023, the US accounted for the highest total prevalent cases of 22q11.2 deletion syndrome in the 7MM.
• The EU4 and the UK represented ~40% of the total prevalent cases of 22q11.2 deletion syndrome in the 7MM, in 2023.
• Among EU4 and the UK, Germany accounted for the highest total prevalent cases of 22q11.2 deletion syndrome.
• In 2023, most cases of 22q11.2 deletion syndrome are diagnosed in the age group of 6-12 years in 7MM

22q11.2 Deletion Syndrome Drug Chapter

The drug chapter segment of the 22q11.2 Deletion Syndrome market report encloses a detailed analysis of 22q11.2 Deletion Syndrome marketed drugs and late-stage (Phase III and Phase II) pipeline drugs. It also deep dives into the 22q11.2 Deletion Syndrome clinical trial details, recent and expected market approvals, patent details, the latest news, and recent deals and collaborations.

Emerging 22q11.2 Deletion Syndrome Drugs

Zygel, 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 the skin and then into the circulatory system. It is currently being developed for patients suffering from Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD) in pediatric patients, 22q11.2 deletion syndrome, and a heterogeneous group of rare and ultra-rare epilepsies known as Developmental and Epileptic Encephalopathies (DEE). Zygel has a unique mechanism of action, where cannabidiol modulates multiple receptors and mediates numerous pathways, including the endocannabinoid pathway.

22q11.2 Deletion Syndrome Market Outlook

Key 22q11.2 deletion syndrome companies, such as Zynerba Pharmaceuticals and others are evaluating their lead candidates in different stages of clinical development, respectively. They aim to investigate their products for the treatment of 22q11.2 Deletion Syndrome.

• In the total 22q11.2 deletion syndrome market size in the 7MM, the United States accounted for the highest 22q11.2 deletion syndrome market size.
• Among EU4 countries and the UK, Germany was estimated to have the lowest 22q11.2 deletion syndrome market size in 2023.
• The pipeline of 22q11.2 Deletion Syndrome is not very robust and during the forecast period (2024-2034), only one candidate, i.e., Zygel (ZYN002).

22q11.2 Deletion Syndrome Drugs Uptake

This section focuses on the uptake rate of potential 22q11.2 deletion syndrome drugs expected to be launched in the market during 2024-2034, which depends on the competitive landscape, safety, and efficacy data along with order of entry. It is important to understand that the key players evaluating their novel therapies in the pivotal and confirmatory trials should remain vigilant when selecting appropriate comparators to stand the greatest chance of a positive opinion from regulatory bodies, leading to approval, smooth launch, and rapid uptake.

22q11.2 Deletion Syndrome Pipeline Activities

The 22q11.2 deletion syndrome market report provides insights into different therapeutic candidates in Phase III and Phase II stages. It also analyzes key 22q11.2 deletion syndrome companies involved in developing targeted therapeutics.

Pipeline Development Activities

The 22q11.2 deletion syndrome pipeline report covers information on collaborations, acquisitions and mergers, licensing, and patent details for 22q11.2 Deletion Syndrome emerging therapies.

22q11.2 deletion syndrome KOL Views

To keep up with the real-world scenario in current and emerging 22q11.2 deletion syndrome market trends, we take opinions from Key Industry leaders working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts were contacted for insights on the evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake along with challenges related to accessibility.

DelveInsight's analysts connected with 10+ KOLs to gather insights; however, interviews were conducted with 5+ KOLs in the 7MM. Their opinion helps understand and validate current and emerging treatment patterns of 22q11.2 Deletion Syndrome. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of gaps in disease diagnosis, patient awareness, physician acceptability, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided.

22q11.2 deletion syndrome Market Access and Reimbursement

The 22q11.2 deletion syndrome market report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of currently used therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the 22q11.2 deletion syndrome Market Report

• The 22q11.2 deletion syndrome market report covers a segment of key events, an executive summary, descriptive overview of 22q11.2 Deletion Syndrome, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression along with country-specific treatment guidelines.
• Additionally, an all-inclusive account of both the current and emerging therapies, along with the elaborative profiles of late-stage and prominent therapies, will have an impact on the current treatment landscape.
• A detailed review of the 22q11.2 Deletion Syndrome market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The 22q11.2 deletion syndrome market report provides an edge while developing business strategies, by understanding trends, through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help in shaping and driving the 7MM 22q11.2 Deletion Syndrome market.

22q11.2 Deletion Syndrome Market Report Insights

• 22q11.2 deletion syndrome Patient Population
• 22q11.2 deletion syndrome Therapeutic Approaches
• 22q11.2 Deletion Syndrome Pipeline Analysis
• 22q11.2 Deletion Syndrome Market Size
• 22q11.2 deletion syndrome Market Trends
• Existing and future 22q11.2 deletion syndrome Market Opportunity

22q11.2 Deletion Syndrome Market Report Key Strengths

• Eleven Years Forecast
• 7MM Coverage
• 22q11.2 Deletion Syndrome Epidemiology Segmentation
• Inclusion of Country specific treatment guidelines
• KOL's feedback on approved and emerging 22q11.2 deletion syndrome therapies
• Key Cross Competition
• Conjoint analysis
• 22q11.2 deletion syndrome Drugs Uptake
• Key 22q11.2 deletion syndrome Market Forecast Assumptions

22q11.2 Deletion Syndrome Market Report Assessment

• Current Treatment Practices
• 22q11.2 deletion syndrome Unmet Needs
• 22q11.2 deletion syndrome Pipeline Product Profiles
• 22q11.2 deletion syndrome Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs:

• What is the growth rate of the 7MM 22q11.2 Deletion Syndrome treatment market?
• What was the 22q11.2 Deletion Syndrome market size, the market size by therapies, market share (%) distribution in 2020, and what would it look like in 2034? What are the contributing factors/key catalysts for this growth?
• Is there any unexplored patient setting that can open the window for growth in the future?
• What are the pricing variations among different geographies for approved and off-label 22q11.2 deletion syndrome therapies?
• How would the market drivers, barriers, and future opportunities affect the 22q11.2 deletion syndrome market dynamics and subsequent analysis of the associated trends? Although multiple expert guidelines recommend testing for targetable mutations before therapy initiation, why do barriers to testing remain high?
• What are the current and emerging options for the treatment of 22q11.2 Deletion Syndrome?
• How many companies are developing therapies for the treatment of 22q11.2 Deletion Syndrome?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitations of existing 22q11.2 deletion syndrome therapies?
• Patient/physician acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the country-specific accessibility issues of expensive, recently approved 22q11.2 deletion syndrome therapies?

Reasons to buy:

• The 22q11.2 deletion syndrome market report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the 22q11.2 Deletion Syndrome Market.
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• Understand the existing 22q11.2 deletion syndrome market opportunities in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of approved products in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identifying strong upcoming 22q11.2 deletion syndrome companies in the market will help devise strategies to help get ahead of competitors.
• Detailed analysis and ranking of class-wise potential current and emerging therapies under the conjoint analysis section to provide visibility around leading classes.
• Highlights of access and reimbursement policies of approved therapies, barriers to accessibility of expensive off-label therapies, and patient assistance programs.
• To understand Key Opinion Leaders' perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing market so that the upcoming 22q11.2 deletion syndrome companies can strengthen their development and launch strategy.