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Down Syndrome Market Poised for Transformation with Advancing Genetic Research and Supportive Therapies by 2034
Down Syndrome, caused by an extra copy of chromosome 21, is one of the most common chromosomal disorders, marked by intellectual disability, developmental delays, and health issues like heart defects and thyroid problems. Advances in prenatal screening and supportive care are improving management and outcomes.
DelveInsight's ' Down Syndrome Market Report ' offers a robust analysis of epidemiological trends, patient segmentation, and disease burden across key geographies, including the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. The report delves into the evolving standards of care, multidisciplinary support systems, and a growing focus on cognitive enhancement therapies and comorbidity management.
As research accelerates into potential disease-modifying therapies, such as neuroprotective agents and gene-targeted approaches, the Down Syndrome market is witnessing a paradigm shift. The report provides key insights into the clinical development pipeline, emerging opportunities, and strategic perspectives for stakeholders across the healthcare ecosystem. With rising awareness, policy support, and innovation in therapeutic approaches, the market outlook for Down Syndrome is expected to expand steadily through 2034.
Some of the Key Facts of the Down Syndrome Market Report:
• In 2023, the Down Syndrome market in the United States was valued at approximately USD 241 million.
• According to the Global Down Syndrome Foundation, rare forms of the condition—translocation and mosaic Down Syndrome—account for less than 6% of cases, where not all chromosomes or cells carry the extra copy.
• The prevalent population of Down Syndrome in the U.S. was estimated at around 220K in 2023.
• By age group, prevalence was segmented into 0–18, 19–40, 41–60, and 60+, with the 0–18 group having the highest number of cases.
• In May 2025, Darmiyan, Inc. announced FDA approval of a 7-year post-market surveillance study for BrainSee, its prognostic tool for Alzheimer's disease. The study will assess BrainSee's safety and effectiveness across a diverse U.S. population and support improved patient selection for future Alzheimer's clinical trials.
• In May 2025, the FDA granted Breakthrough Device designation to Fujirebio Diagnostics' Lumipulse G pTau217/ß-Amyloid 1-42 Plasma Ratio, an in vitro blood test for detecting amyloid plaques in adults aged 55+ showing signs of Alzheimer's disease.
• In April 2025, Biogen Inc. (Nasdaq: BIIB) announced that the FDA granted Fast Track designation to BIIB080, an antisense oligonucleotide therapy targeting tau, for Alzheimer's disease treatment, aiming to speed up its development and review.
• In June 2024, Eli Lilly confirms donanemab trial for Down syndrome Alzheimer's patients. In an FDA advisory meeting, Lilly's CMO, Dr. David Hyman, disclosed that a clinical study assessing donanemab safety in this population is being planned
• Leading companies in the Down Syndrome market include AC Immune, Annovis Bio, Alzheon, OPKO Health, Inc., Aelis Farma, and others.
• Emerging acute Down Syndrome drugs include AEF0217, ACI-24.060, LEUCETTINIB-21, BUNTANETAP, APH-1104, and others.
• Growing prevalence and advancing therapies are boosting demand for more targeted Down Syndrome treatments.
To know in detail about the Down syndrome market outlook, drug uptake, treatment scenario, and epidemiology trends, click here: Down Syndrome Market Forecast
Down Syndrome Overview
Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. This chromosomal anomaly leads to a wide spectrum of physical and intellectual developmental delays and disabilities. Individuals with Down syndrome often exhibit characteristic facial features, hypotonia (low muscle tone), and varying degrees of cognitive impairment. The condition is the most common chromosomal disorder globally, with its incidence increasing with advanced maternal age.
Despite its challenges, medical and social advancements have significantly improved life expectancy and quality of life for individuals with Down syndrome. Early intervention programs, inclusive education, regular health screenings, and multidisciplinary care have played a critical role in promoting their development and independence. However, individuals with Down syndrome are also at higher risk for a range of health complications, including congenital heart defects, respiratory and hearing issues, thyroid conditions, and an increased predisposition to Alzheimer's disease. Ongoing research is exploring targeted therapies to address these associated conditions and improve long-term outcomes.
Get a free sample of the Down syndrome market report with key insights and emerging therapies here:
Down Syndrome Epidemiology
The epidemiology section provides insights into the historical, current, and forecasted epidemiology trends in the seven major countries (7MM) from 2020 to 2034. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. The epidemiology section also provides a detailed analysis of the diagnosed patient pool and future trends.
Down Syndrome Epidemiology Segmentation:
The Down Syndrome epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by:
• Total Prevalent Cases of Down Syndrome
• Type-specific Cases of Down Syndrome
• Gender-specific Cases of Down Syndrome
• Prevalent Cases of Down Syndrome by clinical manifestations
• Prevalent Cases of Down Syndrome by Age
Download the report to understand which factors are driving Down syndrome epidemiology trends @ Down Syndrome Epidemiology Forecast
Down Syndrome Drugs Uptake and Pipeline Development Activities
The Down Syndrome drugs uptake section examines the rate at which newly launched or upcoming potential drugs are being adopted in the Down Syndrome market during the study period. This analysis covers drug uptake, patient adoption of therapies, and the sales performance of each drug.
Additionally, the therapeutics assessment section highlights the drugs with the most rapid uptake, shedding light on the factors driving their widespread use. It also provides a comparative analysis of these drugs based on their market share.
The report further delves into the Down Syndrome pipeline development activities, offering key insights into various therapeutic candidates in different stages of development and the major companies behind these innovations. It also covers recent collaborations, acquisitions, mergers, licensing agreements, patent details, and other critical information related to emerging therapies.
Down Syndrome Market Outlook
The Down Syndrome treatment landscape is evolving as research delves deeper into its complex genetic and neurological underpinnings. While there is currently no curative therapy, ongoing advancements in supportive care and targeted therapeutic development are reshaping the outlook for individuals with the condition. Multiple investigational therapies, including AEF0217 and ACI-24.060, are under clinical evaluation, aiming to address cognitive impairment and other neurological symptoms associated with trisomy 21. These candidates, in early-to-mid-stage clinical trials, signal a growing focus on disease-modifying approaches.
As diagnostic accuracy improves and awareness increases, early intervention and multidisciplinary management continue to be central to care. However, the significant unmet need for pharmacological treatments that go beyond symptomatic relief opens the door for innovation. With a rising global prevalence and expanding research investments, the Down Syndrome market is poised for gradual but meaningful growth through 2034, driven by breakthroughs in neurodevelopmental therapy and precision medicine.
Down Syndrome Market Strengths
• Increasing public health initiatives, better screening protocols during pregnancy, and early childhood diagnosis are enhancing timely interventions, improving quality of life, and creating opportunities for therapeutic development.
• A growing pipeline of targeted therapies, such as AEF0217 and ACI-24.060, shows increasing pharmaceutical interest in addressing cognitive and neurological aspects of Down Syndrome, paving the way for disease-modifying treatments.
Down Syndrome Market Weaknesses
• Despite ongoing clinical efforts, there are currently no FDA-approved treatments that specifically address the underlying neurodevelopmental deficits of Down Syndrome, limiting clinical options.
• Conducting trials in Down Syndrome populations poses challenges due to cognitive variability, ethical considerations, and difficulty in selecting appropriate clinical endpoints, which can slow drug development progress.
Scope of the Down Syndrome Market Report
• Study Period: 2020–2034
• Coverage: 7MM [The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan]
• Key Down Syndrome Companies: AC Immune, Annovis Bio, Alzheon, OPKO Health, Inc., Aelis Farma, and others.
• Key Down Syndrome Therapies: AEF0217, ACI-24.060, LEUCETTINIB-21, BUNTANETAP, APH-1104, and others.
• Down Syndrome Therapeutic Assessment: Down Syndrome, currently marketed, and Down Syndrome emerging therapies
• Down Syndrome Market Dynamics: Down Syndrome market drivers and Down Syndrome market barriers
• Competitive Intelligence Analysis: SWOT analysis, PESTLE analysis, Porter's five forces, BCG Matrix, Market entry strategies
• Down Syndrome Unmet Needs, KOL's views, Analyst's views, Down Syndrome Market Access and Reimbursement
To learn more about the key players and advancements in the Down syndrome treatment landscape, visit the Down Syndrome Market Analysis Report
Table of Contents
1. Down Syndrome Market Report Introduction
2. Executive Summary for Down Syndrome
3. SWOT analysis of Down Syndrome
4. Down Syndrome Patient Share (%) Overview at a Glance
5. Down Syndrome Market Overview at a Glance
6. Down Syndrome Disease Background and Overview
7. Down Syndrome Epidemiology and Patient Population
8. Country-Specific Patient Population of Down Syndrome
9. Down Syndrome Current Treatment and Medical Practices
10. Down Syndrome Unmet Needs
11. Down Syndrome Emerging Therapies
12. Down Syndrome Market Outlook
13. Country-Wise Down Syndrome Market Analysis (2020–2034)
14. Down Syndrome Market Access and Reimbursement of Therapies
15. Down Syndrome Market Drivers
16. Down Syndrome Market Barriers
17. Down Syndrome Appendix
18. Down Syndrome Report Methodology
19. DelveInsight Capabilities
20. Disclaimer
21. About DelveInsight
About DelveInsight
DelveInsight is a leading Healthcare Business Consultant and Market Research firm focused exclusively on life sciences. It supports Pharma companies by providing comprehensive end-to-end solutions to improve their performance.
It also offers Healthcare Consulting Services, which benefit from market analysis to accelerate business growth and overcome challenges with a practical approach.
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