Down Syndrome - Market Insight, Epidemiology and Market Forecast - 2034

Key Highlights

• Down’s syndrome is a genetic condition caused by an error in cell division called "nondisjunction," resulting in an individual having a full or partial extra copy of chromosome 21. This additional genetic material alters development, leading to the physical and intellectual characteristics associated with Down’s syndrome.
• The market size of Down’s syndrome in 2023 was approximately USD 241 million in the United States.
• In 2023, the United States accounted for nearly 220,000 prevalent cases of Down’s syndrome.
• Down’s syndrome is more common in females than males.
• The types of Down’s syndrome include Trisomy 21, Robertsonian translocation, and Mosaicism. In 2023, among all types, Trisomy 21 accounted for the highest number of prevalent cases in the 7MM.
• There is no single, standard treatment for Down’s syndrome. Treatments are based on each individual’s physical and intellectual needs, as well as their strengths and limitations. People with Down’s syndrome can receive proper care while living at home and in the community.
• In February 2021, the ICOD project received funding of EUR 6 million from the European Commission in order to finance the clinical development of AEF0217 for the treatment of cognitive deficits linked to Down’s syndrome.

This report delivers an in-depth understanding of Down’s syndrome, historical and forecasted epidemiology as well as the Down’s syndrome market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The Down’s syndrome market report provides current treatment practices, emerging drugs, Down’s syndrome market share of individual therapies, and current and forecasted Down’s syndrome market size from 2020 to 2034, segmented by seven major markets. The report also covers current Down’s syndrome treatment practices/algorithms and unmet medical needs to curate the best of the opportunities and assess the underlying potential of the market.

Geography Covered

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

Down’s syndrome Understanding and Treatment Algorithm

Down’s syndrome Overview

Down’s syndrome is a genetic condition caused by an error in cell division called "nondisjunction," resulting in an individual having a full or partial extra copy of chromosome 21. This additional genetic material alters development, leading to the physical and intellectual characteristics associated with Down’s syndrome. Down’s syndrome manifests in three primary forms: Trisomy 21, Translocation Down’s syndrome, and Mosaic Down’s syndrome. Trisomy 21, the most prevalent type, results from an extra copy of chromosome 21 in every cell, constituting about more than 90% of cases. Each type carries its own set of characteristics and variations in severity, shaping the spectrum of the condition's expression.

Down’s syndrome Diagnosis

A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down’s syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down’s syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down’s syndrome on a baby; no one can predict this. Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., Noninvasive prenatal testing, MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down’s syndrome.

Down’s syndrome Treatment

There is no single, standard treatment for Down’s syndrome. Treatments are based on each individual’s physical and intellectual needs, as well as their strengths and limitations. People with Down’s syndrome can receive proper care while living at home and in the community. A child with Down’s syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers. All professionals who interact with children with Down’s syndrome should provide stimulation and encouragement.

Down’s syndrome Epidemiology

The Down’s syndrome epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by the Total Prevalent Cases of Down’s syndrome, Type-specific Cases of Down’s syndrome, Gender-specific Cases of Down’s syndrome, Prevalent Cases of Down’s syndrome by clinical manifestations, Prevalent Cases of Down’s syndrome by Age in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

• According to the Global Down’s syndrome Foundation, there are very rare forms of Down’s syndrome (less than 6%) called translocation Down’s syndrome or mosaic Down’s syndrome in which not all of the chromosomes are triplicated or not all cells of the body carry the extra chromosome.
• In 2023, the United States accounted for nearly 220,000 prevalent cases of Down’s syndrome.
• The prevalent cases of Down’s syndrome by age are segmented in three categories i.e., 0-18, 19-40, 41-60 and >60. Amongst all, the 0-18 category accounted for the highest number of cases in the United States.
• Down’s syndrome is more common in females than males.
• The prevalent cases of Down’s syndrome by clinical manifestations is segmented into cardiac, hearing, vision, respiratory, autoimmune, neurological disorders, and other clinical manifestations. Amongst all, hearing accounted for the highest number of cases in the United States.

Down’s syndrome Drug Chapters

The drug chapter segment of the Down’s syndrome report encloses a detailed analysis of the late-stage (Phase III) and mid-stage pipeline drugs. The current key players include Aelis Farma and AC Immune. The drug chapter also helps understand the Down’s syndrome clinical trial details, pharmacological action, agreements and collaborations, approval, and patent details, and the latest news and press releases.

Emerging Drugs

AEF0217: Aelis Farma

AEF0217 is being developed by Aelis Farma as a signaling-specific inhibitor of the CB1 receptor (CB1-SSi). The CB1 is the main receptor of the brain’s endocannabinoid system and is responsible for regulating several physiological and cognitive processes. Recent research has suggested that cognitive disorders linked to trisomy 21 involve hyperactivity of the CB1 receptor. AEF0217 is positioned as the first treatment for cognitive deficits caused by hyperactivity of the CB1 receptor. AEF0217 aims to capitalize on the distinctive characteristics of CB1-SSi, which allow it to inhibit the hyperactivity of the CB1 receptor without affecting normal physiological functions or causing significant side effects - two criteria that are particularly important for vulnerable populations such as those with Down’s syndrome.

AEF0217, which targets various cognitive disorders, including those associated with Down’s syndrome, has completed safety and pharmacokinetic trials (Phase I clinical program) in healthy volunteers. Currently, AEF0217 is being investigated in the Phase I/II trial, MDDS, for treating Down’s syndrome.

Down’s syndrome Market Outlook

Down’s syndrome (DS) is the most common genomic disorder of intellectual disability and is caused by the trisomy of Homo sapiens chromosome 21 (HSA21). Individuals with trisomy 21 present with a distinct collection of symptoms and manifestations that affect multiple body systems, although variation exists between individuals. The management of patients with Down’s syndrome is multidisciplinary. Newborns with suspicion of Down’s syndrome should have a karyotyping done to confirm the diagnosis. The family needs to be referred to the clinical geneticist for the genetic testing and counseling of both parents.

There is no single standard treatment, but a range of therapies and interventions are available to help individuals with Down’s syndrome reach their full potential. Treatment options include physical therapy that helps with motor skills, muscle strength, and coordination; occupational therapy that focuses on developing everyday skills like dressing, eating, and using technology; speech therapy, which aids in improving communication skills; special education services provided under federal law to ensure appropriate education for children with disabilities; behavioral counseling that addresses conditions like ADHD or autism that may coexist with Down’s syndrome; social and recreational activities for promoting social interaction and engagement; and health monitoring to manage associated health conditions like heart defects, digestive issues, and thyroid problems.

Currently, several emerging therapies, such as AEF0217, ACI-24.060, and others, are being evaluated in mid-stage and early-stage clinical trials.

Down’s Syndrome Drug Uptake

This section focuses on the uptake rate of potential 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.

Down’s syndrome Pipeline Development Activities

The report provides insights into therapeutic candidates in different stages. It also analyzes key players involved in developing targeted therapeutics. Companies like Aelis Farma and AC Immune, and others actively engage in late and mid-stage research and development efforts for Down’s syndrome. The pipeline of Down’s syndrome possesses a few potential drugs. However, there is a positive outlook for the therapeutics market, with expectations of growth during the forecast period (2024-2034).

Pipeline Development Activities

The report covers information on collaborations, acquisitions and mergers, licensing, and patent details for Down’s syndrome emerging therapy.

KOL Views

To keep up with current market trends, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on Down’s Syndrome’ evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake, along with challenges related to accessibility, including MDs, radiologists, oncologists, and others.

The analysts connected with 20+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. The opinion helps understand and validate current and emerging therapy treatment patterns or Down’s syndrome market trends. 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 and Conjoint Analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst’s discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Market Access and Reimbursement

The 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 Report

• The report covers a segment of key events, an executive summary, and a descriptive overview of Down’s syndrome, explaining their causes, signs, symptoms, pathogenesis, and currently used therapies.
• Comprehensive insight into the epidemiology segments and forecasts, disease progression, and treatment guidelines has been provided.
• Additionally, an all-inclusive account of the emerging therapies and the elaborative profiles of late-stage and prominent therapies will impact the current treatment landscape.
• A detailed review of the Down’s 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 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 shape and drive Down’s syndrome.

Down’s syndrome Report Insights

• Patient Population
• Therapeutic Approaches
• Down’s syndrome Pipeline Analysis
• Down’s syndrome Market Size and Trends
• Existing and Future Market Opportunity

Down’s syndrome Report Key Strengths

• Eleven Years Forecast
• The 7MM Coverage
• Down’s syndrome Epidemiology Segmentation
• Key Cross Competition
• Drugs Uptake and Key Market Forecast Assumptions

Down’s syndrome Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT and Conjoint Analysis)

FAQs

• What was the Down’s syndrome market size, the market size by therapies, market share (%) distribution in 2023, and what would it look like by 2034? What are the contributing factors for this growth?
• What can be the future treatment paradigm for Down’s syndrome?
• What are the disease risks, burdens, and unmet needs of Down’s syndrome? What will be the growth opportunities across the 7MM concerning the patient population with Down’s syndrome?
• What are the current options for the treatment of Down’s syndrome? What are the current guidelines for treating Down’s syndrome in the 7MM?
• What are the recent novel therapies, targets, mechanisms of action, and technologies being developed to overcome the limitations of existing therapies?
• What is the patient's share of Down’s syndrome?

Reasons to Buy

• The report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving Down’s syndrome.
• 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 market opportunities in varying geographies and the growth potential over the coming years.
• Identifying strong upcoming players in the market will help devise strategies to help get ahead of competitors.
• Detailed analysis ranking of class-wise potential current and emerging therapies under the analyst view section to provide visibility around leading classes.
• Highlights of access and reimbursement policies of current 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 players can strengthen their development and launch strategy.