The Sanfilippo syndrome market, estimated to be valued at USD 10.62 Billion in 2025, is expected to register a strong CAGR of 9.5%, reaching USD 20.05 Billion by 2032.

Market growth is primarily driven by the increasing diagnosis rates of mucopolysaccharidosis type III (MPS III) and a rising focus on rare disease research. Advancements in gene therapy and enzyme replacement therapies, coupled with supportive regulatory initiatives such as orphan drug designations and fast-track approvals, are accelerating the development of treatments. Additionally, heightened awareness among healthcare professionals and patient advocacy organizations is enhancing early diagnosis and access to clinical trials, further contributing to the market expansion over the forecast period.

Market Takeaways

• By Diagnosis, the GAG Analysis segment is projected to dominate the Sanfilippo Syndrome market with a 40.3% share in 2025. This dominance is attributed to its reliability in detecting elevated glycosaminoglycans in urine, serving as a critical first-line diagnostic tool for the early identification of MPS III.
• By Treatment, the Enzyme Replacement Therapy segment is expected to hold the largest share of 50.1% in 2025, driven by ongoing clinical advancements and its potential to address the underlying enzyme deficiency in Sanfilippo patients, improving disease management and patient outcomes.
• By region, North America is forecast to lead the Sanfilippo syndrome market in 2025, supported by strong research infrastructure, growing participation in gene therapy clinical trials, favorable regulatory policies for orphan diseases, and active engagement from patient advocacy groups.

Sanfilippo Syndrome Market Report Coverage

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Market Dynamics

The Sanfilippo Syndrome market is experiencing notable growth, primarily driven by the increased awareness of mucopolysaccharidosis type III (MPS III) and advancements in diagnostic capabilities. Early detection through GAG analysis and genomic DNA sequencing is becoming more prevalent, facilitating timely intervention and enhancing patient outcomes. Advancements in diagnostic technologies and greater inclusion of rare genetic disorders in newborn screening programs are also contributing to the market expansion.

The treatment landscape is evolving rapidly with a strong focus on innovative approaches such as enzyme replacement therapy (ERT) and gene therapy. ERT remains the leading treatment modality, supported by encouraging clinical outcomes and ongoing trials aimed at improving central nervous system delivery. Meanwhile, gene therapy is gaining momentum as a potentially curative option, with several candidates progressing through clinical development stages.

Regulatory incentives such as orphan drug designations, accelerated approvals, and increased funding for rare disease research are bolstering the pipeline and attracting investments from biopharmaceutical companies. North America continues to lead the market due to its advanced healthcare infrastructure, strong patient advocacy networks, and active participation in clinical research. Asia Pacific and Europe are also emerging as significant contributors, driven by rising awareness, improving access to rare disease treatments, and expanded diagnostic coverage.

Market Trends

• Gene Therapy Advancements Paving the Way for Curative Treatment

The Sanfilippo Syndrome market is undergoing a major transformation with the rise of gene therapy as a potential one-time curative approach. Several biotech firms are actively developing AAV-based gene therapies targeting different subtypes of MPS III, with promising preclinical and early clinical data. For example, Lysogene’s LYS-SAF302 (for Sanfilippo type A) and Abeona Therapeutics’ ABO-102 have shown encouraging safety and biomarker outcomes, highlighting the potential to address central nervous system pathology that traditional therapies cannot. These developments mark a shift toward disease-modifying interventions rather than symptomatic management.

In May 2022, Ultragenyx acquired global rights to ABO‑102 (now UX111) from Abeona, driven by compelling interim Transpher A study data showing that children treated before age 2 or with higher developmental quotient (DQ > 60) maintained neurocognitive development, reduced cerebrospinal fluid (CSF) and plasma heparan sulfate (HS), decreased liver volume, and improved MRI brain metrics—while maintaining a favorable safety profile. This marked a pivotal strategic move by Ultragenyx to steer the program forward.

• Enhanced Newborn Screening and Early Diagnosis Initiatives

The inclusion of Sanfilippo Syndrome and related lysosomal storage disorders in pilot newborn screening programs is improving early diagnosis and intervention. With early treatment linked to better clinical outcomes, public health bodies and advocacy groups are pushing for the broader adoption of newborn screening panels that include MPS III. Digital health platforms and genetic counseling services are also improving accessibility to genomic sequencing, facilitating earlier detection.

In February 2022, the Cure Sanfilippo Foundation joined with the EveryLife Foundation to support legislative efforts in Maryland and Mississippi aimed at requiring newborn screening programs to include Sanfilippo syndrome by aligning with the federal Recommended Uniform Screening Panel (RUSP). This initiative also funded ScreenPlus, a large-scale newborn screening study across eight hospitals in New York that included Sanfilippo among additional tested conditions.

Market Opportunities

• Expansion of Digital Health Platforms for Remote Monitoring and Early Intervention

The integration of digital health technologies such as AI-powered developmental tracking apps, telehealth consultations, and remote cognitive assessment tools presents a significant market opportunity. These platforms can enable the earlier identification of neurodevelopmental delays in children with Sanfilippo Syndrome and facilitate the longitudinal monitoring of treatment efficacy, especially in regions with limited access to specialized care. Partnerships between digital health startups and rare disease foundations are emerging to develop tailored tools that support families and clinical researchers.

In April 2024, an article published by the National Library of Medicine highlighted discussions from a symposium on rare diseases, where FDNA’s Face2Gene and Child Development Checker were presented as innovative, AI-based, mobile-first tools. These platforms enable parents and clinicians to identify developmental and genetic disorders early through symptom tracking and facial image analysis. Although not specific to Sanfilippo Syndrome, their application is directly relevant to conditions like MPS III, where early cognitive regression and facial dysmorphology are key indicators. The study emphasized that such tools can significantly shorten diagnostic delays and facilitate timely therapeutic intervention.

• Development of Intrathecal Delivery Systems to Enhance CNS Drug Penetration

A major therapeutic challenge in Sanfilippo Syndrome is delivering therapies across the blood–brain barrier. This has led to a growing opportunity for developing intrathecal (IT) or intracerebroventricular (ICV) delivery systems that enable targeted CNS administration of enzyme replacement or gene therapies. Companies investing in miniaturized, implantable drug delivery devices or advanced catheter systems are well-positioned to collaborate with gene therapy developers, opening a new niche at the intersection of medtech and rare disease treatment.

In March 2023, although not involving direct device-based intrathecal (IT) administration, innovative fusion protein therapies targeting transferrin or insulin receptors emerged as promising alternatives to enhance CNS drug delivery. Companies like Denali Therapeutics and JCR Pharmaceuticals developed advanced biologics—EVT: SGSH, JR-441, and JR-446—that utilize receptor-mediated transcytosis or transferrin receptor ligation to actively transport therapeutic enzymes across the blood–brain barrier (BBB). These intravenous (IV) therapies are designed to treat central nervous system manifestations of lysosomal storage disorders, including Sanfilippo Syndrome. By addressing the core delivery challenge without the need for invasive procedures, these fusion technologies have progressed to clinical evaluation or received orphan drug designation between 2022 and 2025.

Analyst View

•  The Sanfilippo Syndrome market is at a pivotal juncture, shifting from palliative and symptomatic management to curative strategies led by gene therapy and next-generation enzyme delivery platforms. With multiple AAV-based gene therapies entering early-phase trials and receiving regulatory incentives, the market is expected to see accelerated R&D activity, especially in North America and Europe.
•  Gene therapies like Lysogene’s LYS-SAF302 and Abeona Therapeutics’ ABO-102 have shown encouraging early results, validating the disease-modifying potential of CNS-targeted interventions. These one-time treatments are attracting investor interest and collaboration opportunities between biotech and academic consortia, shaping the future standard of care in MPS III.
•  Diagnostic expansion through newborn screening and digital tools is enabling the earlier detection of Sanfilippo Syndrome, which is critical given the disease’s neurodegenerative progression. Initiatives such as the ScreenPlus program in New York and AI-based platforms like Face2Gene are expected to reduce diagnostic delays and improve enrollment in early-stage clinical trials.
•  Therapeutic innovation is being complemented by advances in CNS drug delivery systems. Intrathecal and intracerebroventricular routes, along with receptor-mediated fusion protein technologies (e.g., Denali Therapeutics' EVT: SGSH), are overcoming blood–brain barrier limitations and expanding treatment access for central nervous system manifestations.
•  The U.S. and select European countries currently dominate the Sanfilippo market due to strong advocacy networks, government funding, and favorable regulatory pathways such as Orphan Drug and RMAT designations. However, Asia-Pacific and Latin America are expected to emerge as new research and treatment hubs as awareness and genomic infrastructure expand.
•  Going forward, the market leadership will favor companies developing integrated solutions—combining gene therapy, advanced diagnostics, and precision delivery technologies. Public-private partnerships, cross-sector collaborations, and outcome-based reimbursement models will be key to driving long-term sustainability and access in this high-cost, high-need rare disease segment.

Recent Developments

• In February 2025, Ultragenyx Pharmaceutical Inc. announced the U.S. Food and Drug Administration (FDA or the Agency) had accepted for review the Biologics License Application (BLA) seeking accelerated approval for UX111 (ABO-102) AAV gene therapy as a treatment for patients with Sanfilippo syndrome type A (MPS IIIA). The FDA granted the BLA Priority Review with a Prescription Drug User Fee Act (PDUFA) action date of August 18, 2025. The FDA also informed the company that they are not currently planning to hold an advisory committee meeting to discuss this application.

Competitive Landscape

• Amgen Inc
• Alkem Labs
• LUPIN
• Hope Pharmaceuticals
• Sanifit
• BSN Medical
• Cipla Inc
• Sun Pharmaceutical Inc
• Mylan N.V.
• Zydus Cadila

Sanfilippo Syndrome Market Segmentation

• By Diagnosis
• GAG Analysis
• Genomic DNA Sequencing
• Activity Assay
• Others
• By Treatment
• Enzyme Replacement Therapy
• Gene Therapy
• Genistein
• Others

Regional Insights

• North America
  • U.S.
  • Canada
• Latin America
  • Mexico
  • Brazil
  • Argentina
  • Rest of Latin America
• Europe
  • Italy
  • Germany
  • U.K.
  • Spain
  • France
  • Russia
  • Rest of Europe
• Asia Pacific
  • South Korea
  • India
  • Japan
  • China
  • Australia
  • ASEAN
  • Rest of Asia Pacific
• Middle East
  • GCC Countries
  • Israel
  • Rest of Middle East
• Africa
  • South Africa
  • North Africa
  • Central Africa