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Sanfilippo Syndrome Global Market Report 2025
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Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare genetic disorder caused by enzyme deficiencies that hinder the body's ability to break down heparan sulfate, a complex sugar. This leads to the accumulation of toxic substances in cells, particularly affecting the central nervous system. The disease is characterized by progressive neurodegeneration, developmental delays, behavioral problems, and a decline in motor and cognitive functions.

Note that the outlook for this market is being affected by rapid changes in trade relations and tariffs globally. The report will be updated prior to delivery to reflect the latest status, including revised forecasts and quantified impact analysis. The report's Recommendations and Conclusions sections will be updated to give strategies for entities dealing with the fast-moving international environment.

The primary treatments for Sanfilippo syndrome include enzyme replacement therapy (ERT), gene therapy, genistein, and other therapeutic options. ERT supplements the deficient or faulty enzymes to reduce the buildup of harmful substances in individuals with the condition. Diagnostic methods for Sanfilippo syndrome include glycosaminoglycan (GAG) analysis, genomic DNA sequencing, activity assays, and other techniques. These diagnostics are primarily utilized by various end users, such as hospitals and research institutions.

The sanfilippo syndrome market research report is one of a series of new reports from The Business Research Company that provides sanfilippo syndrome market statistics, including the sanfilippo syndrome industry global market size, regional shares, competitors with the sanfilippo syndrome market share, detailed sanfilippo syndrome market segments, market trends, and opportunities, and any further data you may need to thrive in the sanfilippo syndrome industry. This sanfilippo syndrome market research report delivers a complete perspective of everything you need, with an in-depth analysis of the current and future scenarios of the industry.

The sanfilippo syndrome market size has grown rapidly in recent years. It will grow from$8.33 billion in 2024 to $9.24 billion in 2025 at a compound annual growth rate (CAGR) of 10.8%. The growth observed in the historic period can be attributed to several factors, including increased awareness of rare genetic disorders, rising government funding for rare disease research, the expansion of patient advocacy groups and support organizations, the growth of genetic screening programs, and the increase in orphan drug designations for rare diseases.

The sanfilippo syndrome market size is expected to see rapid growth in the next few years. It will grow to$13.79 billion in 2029 at a compound annual growth rate (CAGR) of 10.5%. The growth projected for the forecast period can be attributed to several factors, including the expansion of personalized medicine strategies for Sanfilippo syndrome, increasing adoption of gene therapy as a potential curative approach, rising demand for targeted drug delivery systems, greater adoption of stem cell therapies with improved efficacy, and the global expansion of newborn screening programs. Key trends in the forecast period include advancements in gene therapy technologies, innovations in stem cell therapy, development of targeted drug delivery systems, improvements in blood-brain barrier (BBB) penetration strategies, and progress in neuroprotective small molecules.

The growing emphasis on gene therapies is expected to drive the expansion of the Sanfilippo syndrome market in the coming years. Gene therapies involve medical treatments that aim to modify or replace faulty genes to treat or prevent diseases. The increasing focus on these therapies is due to their potential to address genetic disorders, rare diseases, and chronic conditions by targeting the root causes at the molecular level. Specifically, gene therapies are beneficial in treating Sanfilippo syndrome by delivering functional versions of the defective gene to restore enzyme production, thus reducing harmful substance buildup in cells. For example, in January 2024, the American Society of Gene & Cell Therapy, a U.S.-based organization for gene and cell therapy, reported a 10% increase in the number of gene therapies in Phase III clinical trials during the fourth quarter, marking the first quarterly growth of this kind since the third quarter of 2022. This growing emphasis on gene therapies is, therefore, fueling the growth of the Sanfilippo syndrome market.

Leading companies in the Sanfilippo syndrome market are focusing on developing groundbreaking treatments, such as gene therapies, to enhance patient outcomes and slow the progression of the disease. Gene therapy is an innovative medical approach that uses genes to treat, prevent, or cure diseases by correcting or replacing defective genes within the body. For instance, in February 2025, Ultragenyx Pharmaceutical Inc., a U.S.-based biopharmaceutical company, announced new findings related to UX111 (ABO-102), an AAV gene therapy for Sanfilippo syndrome Type A (MPS IIIA). The treatment showed statistically significant improvements in Bayley-III raw scores for cognition, receptive communication, and expressive communication. Additionally, it resulted in a substantial and sustained reduction in cerebrospinal fluid (CSF) heparan sulfate (HS) levels, which was linked to improved clinical outcomes.

In May 2022, Ultragenyx Pharmaceutical Inc. acquired the global rights to the AAV-based gene therapy ABO-102 from Abeona Therapeutics Inc. for an undisclosed amount. This acquisition granted Ultragenyx full control over ABO-102 (now referred to as UX111), a gene therapy for Sanfilippo syndrome Type A (MPS IIIA). Under the terms of the agreement, Abeona remains eligible for tiered royalties of up to 10% on net sales, as well as commercial milestone payments upon regulatory approval. Abeona Therapeutics Inc. is a U.S.-based clinical-stage biopharmaceutical company specializing in AAV-based gene therapies for neuromuscular and lysosomal storage disorders.

Major players in the sanfilippo syndrome market are Takeda Pharmaceutical Company Limited, BioMarin Pharmaceutical Inc., Qiagen N.V., Natera Inc., Guardant Health Inc., Novogene Corporation, Ultragenyx Pharmaceutical Inc., JCR Pharmaceuticals Co. Ltd., Oxford Nanopore Technologies plc, Pacific Biosciences of California Inc., Denali Therapeutics Inc., Macrogen Inc., REGENXBIO Inc., Personalis Inc., Veritas Genetics Inc., Greenwood Genetic Center, ArmaGen Inc., Abeona Therapeutics Inc., Orchard Therapeutics plc, and Allievex Corporation.

North America was the largest region in the sanfilippo syndrome market in 2024. The regions covered in sanfilippo syndrome report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East and Africa.

The countries covered in the sanfilippo syndrome market report are Australia, Brazil, China, France, Germany, India, Indonesia, Japan, Russia, South Korea, UK, USA, Canada, Italy, Spain.

The sanfilippo syndrome market consists of revenues earned by entities by providing services such as substrate reduction therapies (SRT), and other emerging treatment modalities and related diagnostic services, supportive care solutions, and clinical trial services. The market value includes the value of related goods sold by the service provider or included within the service offering. The sanfilippo syndrome market also includes sales of antiepileptic drugs, sleep aids, and behavioral management medications. Values in this market are 'factory gate' values, that is the value of goods sold by the manufacturers or creators of the goods, whether to other entities (including downstream manufacturers, wholesalers, distributors and retailers) or directly to end customers. The value of goods in this market includes related services sold by the creators of the goods.

The market value is defined as the revenues that enterprises gain from the sale of goods and/or services within the specified market and geography through sales, grants, or donations in terms of the currency (in USD, unless otherwise specified).

The revenues for a specified geography are consumption values that are revenues generated by organizations in the specified geography within the market, irrespective of where they are produced. It does not include revenues from resales along the supply chain, either further along the supply chain or as part of other products.

Sanfilippo Syndrome Global Market Report 2025 from The Business Research Company provides strategists, marketers and senior management with the critical information they need to assess the market.

This report focuses on sanfilippo syndrome market which is experiencing strong growth. The report gives a guide to the trends which will be shaping the market over the next ten years and beyond.

Reasons to Purchase

Where is the largest and fastest growing market for sanfilippo syndrome ? How does the market relate to the overall economy, demography and other similar markets? What forces will shape the market going forward? The sanfilippo syndrome market global report from the Business Research Company answers all these questions and many more.

The report covers market characteristics, size and growth, segmentation, regional and country breakdowns, competitive landscape, market shares, trends and strategies for this market. It traces the market's historic and forecast market growth by geography.

The forecasts are made after considering the major factors currently impacting the market. These include the Russia-Ukraine war, rising inflation, higher interest rates, and the legacy of the COVID-19 pandemic.

Scope

Table of Contents

1. Executive Summary

2. Sanfilippo Syndrome Market Characteristics

3. Sanfilippo Syndrome Market Trends And Strategies

4. Sanfilippo Syndrome Market - Macro Economic Scenario Including The Impact Of Interest Rates, Inflation, Geopolitics, Trade Wars and Tariffs, And Covid And Recovery On The Market

5. Global Sanfilippo Syndrome Growth Analysis And Strategic Analysis Framework

6. Sanfilippo Syndrome Market Segmentation

7. Sanfilippo Syndrome Market Regional And Country Analysis

8. Asia-Pacific Sanfilippo Syndrome Market

9. China Sanfilippo Syndrome Market

10. India Sanfilippo Syndrome Market

11. Japan Sanfilippo Syndrome Market

12. Australia Sanfilippo Syndrome Market

13. Indonesia Sanfilippo Syndrome Market

14. South Korea Sanfilippo Syndrome Market

15. Western Europe Sanfilippo Syndrome Market

16. UK Sanfilippo Syndrome Market

17. Germany Sanfilippo Syndrome Market

18. France Sanfilippo Syndrome Market

19. Italy Sanfilippo Syndrome Market

20. Spain Sanfilippo Syndrome Market

21. Eastern Europe Sanfilippo Syndrome Market

22. Russia Sanfilippo Syndrome Market

23. North America Sanfilippo Syndrome Market

24. USA Sanfilippo Syndrome Market

25. Canada Sanfilippo Syndrome Market

26. South America Sanfilippo Syndrome Market

27. Brazil Sanfilippo Syndrome Market

28. Middle East Sanfilippo Syndrome Market

29. Africa Sanfilippo Syndrome Market

30. Sanfilippo Syndrome Market Competitive Landscape And Company Profiles

31. Sanfilippo Syndrome Market Other Major And Innovative Companies

32. Global Sanfilippo Syndrome Market Competitive Benchmarking And Dashboard

33. Key Mergers And Acquisitions In The Sanfilippo Syndrome Market

34. Recent Developments In The Sanfilippo Syndrome Market

35. Sanfilippo Syndrome Market High Potential Countries, Segments and Strategies

36. Appendix

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