(Albany, US), November 03, 2026 – DelveInsight’s ‘Mucopolysaccharidosis Type I (MPS I) Market Insights, Epidemiology and Market Forecast – 2036’ report delivers an in-depth understanding of MPS I, historical and forecasted epidemiology, as well as the Mucopolysaccharidosis I market trends in the United States, EU4 (Germany, Spain, Italy, and France), the United Kingdom, and Japan.
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Key Takeaways from the Mucopolysaccharidosis I Market Report
In Feb 2026, The FDA issued a Complete Response Letter (CRL) to REGENXBIO’s BLA for clemidsogene lanparvovec (RGX-121), an investigational AAV-based gene therapy for mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
According to DelveInsight’s analysis, the Mucopolysaccharidosis I market size across the 7MM was valued at approximately USD 155 million in 2025 and is projected to expand at a CAGR of 8.6% during 2026-2036, driven by the anticipated entry of advanced therapies and improved clinical management.
Among the 7MM, the United States accounted for the largest Mucopolysaccharidosis type I market size, valued at approximately USD 75 million in 2025, while the EU4 and the UK combined represented approximately USD 70 million, and Japan accounted for approximately USD 10 million.
In 2025, the United States accounted for approximately 240 diagnosed prevalent cases of MPS I, a small but clinically significant patient base that drives the demand for specialized orphan drug therapies.
Significant treatment gaps persist because delayed and inaccurate diagnosis is common, as the diverse and vague symptoms of MPS I often mimic common conditions, and the lack of universal newborn screening leaves many severe cases undetected until life-threatening complications arise.
The current standard of care, laronidase (ALDURAZYME), faces limitations in addressing the full systemic and neurological spectrum of the disease, which has fueled the development of candidates such as OTL-203 and lepunafusp alfa (JR-171).
The mucopolysaccharidosis treatment market pipeline is transitioning toward next-generation gene therapies and recombinant DNA technologies, with HSC gene therapy (OTL-203) currently in Phase III clinical development.
The leading Mucopolysaccharidosis I companies include BioMarin Pharmaceutical, Orchard Therapeutics, JCR Pharmaceuticals, Sanofi, IMMUSOFT, and others.
Promising Mucopolysaccharidosis I therapies include Laronidase (ALDURAZYME), Lepunafusp alfa (JR-171), Iduronicrin genleukocel-T (ISP-001), OTL-203, and others.
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Mucopolysaccharidosis I Overview
Mucopolysaccharidosis I (MPS I) is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-iduronidase (IDUA), which is crucial for breaking down glycosaminoglycans (GAGs) like dermatan sulfate and heparan sulfate. The accumulation of these substances leads to progressive cellular and tissue dysfunction, affecting multiple organ systems, including the skeletal, cardiovascular, respiratory, and nervous systems. MPS I diagnosis involves GAG analysis, enzyme assays, and genetic testing, enabling early treatment, prognosis assessment, and genetic counseling. Screening programs support early detection, while comprehensive evaluations such as pulmonary function tests, polysomnography, audiometry, ocular exams, skeletal imaging, and cognitive assessments aid in disease monitoring. Newborn screening and molecular testing play a crucial role in optimizing patient management and improving long-term outcomes across the mucopolysaccharidoses market.
Mucopolysaccharidosis I Epidemiology Segmentation in the 7MM
Diagnosed Prevalent Cases of Mucopolysaccharidosis I
Severity-specific Diagnosed Prevalent Cases of Mucopolysaccharidosis I
Treated Cases of Mucopolysaccharidosis I
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Mucopolysaccharidosis I Epidemiology Key Findings
As of 2025, the diagnosed prevalent population of MPS I across the 7MM is estimated at approximately 650 cases, highlighting both the rarity of the condition and variations in regional diagnostic practices.
In 2025, the United States represented the largest share with nearly 240 cases, supported by more advanced screening systems and higher disease awareness.
In 2025, EU4 and the UK together contributed ~400 cases, with the UK representing the largest individual European segment at ~110 cases.
In 2025, Japan accounted for the largest proportion of Scheie syndrome (MPS IS) cases, representing approximately 50% of all MPS I cases based on disease severity, a key factor shaping the Hurler Scheie syndrome market.
In 2025, EU4 and the UK accounted for a significant proportion of Hurler syndrome (MPS IH) cases, with approximately 240 diagnosed cases, reflecting the distribution of the disease based on clinical severity.
Approved Therapies for Mucopolysaccharidosis I
Laronidase (ALDURAZYME): BioMarin Pharmaceutical/Sanofi
Laronidase (ALDURAZYME) is a recombinant form of the human enzyme IDUA, produced using recombinant DNA technology in Chinese hamster ovary cells. It is intended for IV infusion and is provided as a sterile, non-pyrogenic solution that must be diluted in 0.9% Sodium Chloride Injection, USP prior to administration. Developed by BioMarin Pharmaceutical and Genzyme Corporation, which Sanofi acquired later, ALDURAZYME plays a vital role in breaking down GAG, making it essential for the treatment of lysosomal storage disorders. It carries a boxed warning for the risk of hypersensitivity reactions, including anaphylaxis, as well as acute respiratory complications related to its administration. Laronidase is approved in the United States (2003), Europe (2003), and Japan (2006) for treating MPS I, providing enzyme replacement to address systemic manifestations of the disease, though with limited impact on central nervous system symptoms. It remains the cornerstone of the Hurler syndrome treatment market.
Mucopolysaccharidosis I Pipeline Analysis
OTL-203: Orchard Therapeutics/Kyowa Kirin
OTL-203 is a one-time gene therapy using a patient’s own hematopoietic stem and progenitor cells (HSPCs) collected from mobilized peripheral blood and genetically modified ex vivo with a lentiviral vector carrying the IDUA complementary DNA. Developed as a cryopreserved formulation, it aims to correct the genetic defect in HSCs by introducing functional IDUA complementary DNA. It is currently in Phase III clinical trials in North America and Europe, with planned approval anticipated in 2029/2030. OTL-203 has received Fast Track designation (FTD) and Rare Pediatric Disease designation (RPDD) from the US FDA, along with PRIME status from the EMA. The program originated from, and was initially developed in collaboration with, the San Raffaele Telethon Institute for Gene Therapy in Italy.
Lepunafusp alfa (JR-171): JCR Pharmaceuticals
Lepunafusp alfa (JR-171) is an iduronidase replacement therapy administered by IV infusion and is currently in Phase I/II development, with an anticipated US launch in 2031. JR-171 received FTD from the US FDA in September 2021 for treating CNS symptoms of MPS I.
Iduronicrin genleukocel-T (ISP-001): IMMUSOFT
Iduronicrin genleukocel-T (ISP-001) is a gene transference therapy in Phase I development. In September 2022, IMMUSOFT reported that the US FDA had cleared its IND application for ISP-001, marking the first engineered B cell therapy to advance into clinical trials for MPS I.
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Mucopolysaccharidosis I Market Outlook
The market outlook for MPS I remains encouraging, driven by the rare disease designation, high unmet clinical need, and growing awareness leading to earlier diagnosis. Advances in therapy, including hematopoietic stem cell transplantation and enzyme replacement, are gradually being complemented by next-generation candidates aiming for more comprehensive disease control. Pipeline innovation spanning gene therapies and improved enzyme modalities is expected to expand treatment options, enhance long-term outcomes, and address multi-systemic manifestations. Market growth will be supported by improved screening programs, increasing physician familiarity, and the potential for durable, disease-modifying therapies across pediatric and adult patient populations. The emergence of next-generation therapies like OTL-203 aims to cross the blood-brain barrier and provide more comprehensive disease control, significantly improving the long-term quality of life for patients with severe phenotypes. Together, these dynamics are shaping the sly syndrome market and the wider mucopolysaccharidosis market over the forecast period.
Mucopolysaccharidosis I Market Drivers
Advancements in Enzyme Replacement Therapies (ERTs), with continuous development of innovative therapies and improved treatment outcomes
Increasing awareness and early diagnosis, supported by newborn screening programs
Rising investment in rare disease research and orphan drug development
Supportive regulatory incentives such as orphan drug designation, fast-track approvals, and research grants
Emergence of gene and cell therapies, including gene-editing technologies and regenerative medicine
Mucopolysaccharidosis I Market Barriers
Delayed and inaccurate diagnosis
Limitations in current treatments
Bone and joint complications
Limited access to specialized care
Research and development gaps
Need for standardized guidelines
Mucopolysaccharidosis I Treatment Landscape
Treatment of MPS I is guided by disease severity, with hematopoietic stem cell transplantation (HSCT) recommended for severe cases, particularly in young children, due to its ability to preserve cognitive function, while enzyme replacement therapy (ERT) primarily addresses somatic symptoms. However, both approaches have limitations, especially in managing skeletal manifestations, making early intervention critical for improved outcomes. The current standard therapy, laronidase (ALDURAZYME), remains constrained in efficacy, driving the development of next-generation treatments. Emerging candidates such as OTL-203, lepunafusp alfa (JR-171), and iduronicrin genleukocel-T (ISP-001) aim to provide more comprehensive disease control.
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Scope of the Mucopolysaccharidosis I Market Report
Coverage- 7MM
Study Period- 2022-2036
Forecast Period- 2026-2036
Mucopolysaccharidosis I Companies- BioMarin Pharmaceutical, Orchard Therapeutics, JCR Pharmaceuticals, Sanofi, IMMUSOFT, and others.
Mucopolysaccharidosis I Therapies- Laronidase (ALDURAZYME), Lepunafusp alfa (JR-171), Iduronicrin genleukocel-T (ISP-001), OTL-203, and others.
Mucopolysaccharidosis I Market Dynamics: Mucopolysaccharidosis I market drivers and market barriers
Mucopolysaccharidosis I Competitive Intelligence Analysis: SWOT Analysis, Attribute Analysis
Mucopolysaccharidosis I Unmet Needs, KOL Views, Reimbursement
Table of Contents
Key Insights
Report Introduction
Mucopolysaccharidosis Type I (MPS I) Market Overview at a Glance
Executive Summary
Key Events
Disease Background and Overview: MPS I
Epidemiology and Market Methodology
Epidemiology and Patient Population
Patient Journey: MPS I
Marketed Therapies
Pipeline Therapies: MPS I
MPS I: 7MM Market Analysis
Key Opinion Leaders’ Views
Unmet Needs
SWOT Analysis
Market Access and Reimbursement
Appendix
DelveInsight Capabilities
Disclaimer
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