22q11.2 Deletion Syndrome – Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032

22q11.2 Deletion Syndrome Market Outlook

Thelansis’s “22q11.2 Deletion Syndrome Market Outlook, Epidemiology, Competitive Landscape, and Market Forecast Report – 2022 To 2032" covers disease overview, epidemiology, drug utilization, prescription share analysis, competitive landscape, clinical practice, regulatory landscape, patient share, market uptake, market forecast, and key market insights under the potential 22q11.2 Deletion Syndrome treatment modalities options for eight major markets (USA, Germany, France, Italy, Spain, UK, Japan, and China).

22q11.2 Deletion Syndrome Overview

22q11.2 deletion syndrome (DS 22q11.2), also known by several other names, such as "DiGeorge syndrome" and "velocardiofacial syndrome", is a rare genetic disorder caused by a deletion of the long arm of chromosome 22, specifically at locus q11.2. This deletion is most commonly a 3 million base pair deletion caused by non-allelic meiotic recombination during ovogenesis or spermatogenesis. In most cases, there are no other cases in the family (de novo), but in about 10% of cases, the syndrome is inherited from a parent. The risk of recurrence between siblings in a de novo case is 2–3% due to low-grade parental germline mosaicism. Affected individuals have a 50% risk of having an affected child. The TBX1 gene is one of the main genes involved in the typical abnormalities associated with the disorder, including the development of the bone structure of the face and neck, the development of large arteries, the structure of the ears, and the development of the thymus and parathyroids. The CRKL gene is also involved. The clinical manifestations include congenital heart defects, chronic infections, developmental and speech delays, learning deficits, and behavioural abnormalities. The diagnosis can be made by detecting cardiac anomalies by ultrasound or genetic testing. The differential diagnoses for this disease include the Smith–Lemli–Opitz, CHARGE, Alagille, VATER and Goldenhar syndromes and isotretinoin embryopathy, as these rare diseases have clinical links with 22q11.2 deletion syndrome. The prognosis of 22q11.2 deletion syndrome is variable and will depend on the severity of the disorder. In infant patients, mortality is relatively low (around 4%), and in adults, mortality is higher than in the general adult population. There is currently no curative treatment for this disease.

• The prevalence of 22q11.2 deletion syndrome is 1 per 4000 live newborns, and males and females are equally affected by 22q11.2 syndrome.

Geography Covered:

North America- the United States and Canada

Europe- EU5 (Germany, France, Italy, Spain, and the United Kingdom)

Other countries- Japan & China

Study Period: 2022-2032

Current Clinical Practice and Treatment Algorithm

This section of the study covers country-specific current clinical practice, the standard of care, and significant limitations around addressing the unmet needs. Retrospective analysis and bench-marking of clinical study outcomes are presented in terms of Pre-treatment & post-treatment clinical and demographic patient characteristics. Essentially, this section will cover the evolution of the current competitive landscape and its impact on the future treatment paradigm.

KOL Insights:

KOLs across 8 MM markets from the center of Excellence/ Public/ Private hospitals participated in the study. Insights around current treatment landscape, epidemiology, clinical characteristics, future treatment paradigm, and Unmet needs

Market Forecast: Patient Based Forecast Model (MS. Excel Based Automated Dashboard)

- Data Inputs with sourcing

- Market Event and Product Event

- Country-specific Forecast Model

- Market uptake and patient share uptake

- Attribute Analysis

- Analog Analysis

- Disease burden and pricing scenario

- Summary and Insights

NPV/ IRR Calculator-

Optimization of cash flow/ revenue flow concerning all fixed and variable investments throughout the product development process. The rate of return on an investment is a critical indicator to ensure the profitability and break-even of the project.

Competitive Landscape:

The competitive landscape includes country-specific approved as well as pipeline therapies. Any asset/product-specific designation or review such as Orphan drug designation, Fast track, Priority Review, Breakthrough Therapy Designation, Rare Pediatric Disease Designation, and Accelerated Approval are tracked and supplemented with analyst commentary.

Clinical Trial Assessment-

Detailed clinical trial data analysis and critical product positioning include trial design, primary outcomes, secondary outcomes, dosing and schedules, inclusion and exclusion criteria, recruitment status and essentially covers the reported adverse events. Majorly the trial analysis helps determine the potential of the critical assets and their probable filing and launch date.

Unmet Medical Needs Overview-

This report presents the most important clinical unmet needs in the treatment, according to Thelansis research and analysis. Other essential unmet needs identified through our study include decreased cost burden on patients, improved administration convenience, and improved patient compliance.

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