Mucopolysaccharidosis I - Market Insights, Epidemiology, and Market Forecast - 2036

Mucopolysaccharidosis Type I (MPS I) Insights and Trends

• According to analysis, the MPS I market across the 7MM was valued at approximately USD 155 million in 2025 and is projected to expand at a Compounded Annual Growth Rate (CAGR) of 8.6%, reflecting steady growth driven by the anticipated entry of advanced therapies and improved clinical management.
• Significant treatment gaps in MPS I persist due to delayed and inaccurate diagnosis, as its diverse and vague symptoms often mimic common conditions; combined with the lack of universal newborn screening, many severe cases remain undetected until life-threatening complications arise, making early diagnosis and awareness critical to enable timely intervention and improve patient outcomes.
• In 2025, the United States accounted for approximately 240 diagnosed prevalent cases of MPS I, representing a small but clinically significant patient base that drives the demand for specialized orphan drug therapies.
• The current standard of care, laronidase (ALDURAZYME), faces limitations in addressing the full systemic and neurological spectrum of the disease. This has fueled the development of innovative candidates like OTL-203, lepunafusp alfa (JR-171), which aim to provide more comprehensive enzyme delivery and improved patient outcomes and reshape the MPS I treatment landscape.
• The MPS I pipeline is transitioning toward next-generation gene therapies and recombinant DNA technologies. Assets such as HSC gene therapy (OTL-203) are currently in late-stage (Phase III) clinical development, signaling a major shift toward potentially curative, one-time interventions that could reshape the long-term treatment landscape.
• Research on MPS I treatment is limited and outdated, hindering access to innovative therapies. The lack of ongoing studies slows progress in addressing complications like bone deformities and neurodegeneration, underscoring the need for continuous research, clinical trials, and updated treatment guidelines.

Mucopolysaccharidosis Type I (MPS I) Market size and forecast

• 2025 MPS I Market Size in the 7MM: USD 150 million
• MPS I Growth Rate (2026-2036) in the 7MM: 8.6% CAGR

The ‘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 MPS I market trends in the United States, EU4 (Germany, Spain, Italy, and France), the United Kingdom, and Japan.

The MPS I market report delivers a comprehensive analysis of the current treatment landscape, including standards of care, clinical practices, and evolving therapeutic algorithms. It evaluates, MPS I patient burden trends, revenue & market share dynamics, peak patient share & therapy uptake analysis, and provides an in-depth market size assessment, and growth rate projections (Historical & Forecast 2022-2036) across the 7MM regions. The report highlights key unmet medical needs in MPS I and maps the competitive and clinical landscape to uncover high‑value opportunities, providing a clear outlook on future market growth potential.

Geography Covered

North America: The United States

Europe: Germany, France, Italy, Spain and the United Kingdom

Asia-Pacific: Japan

Mucopolysaccharidosis Type I (MPS I) Understanding and Treatment Algorithm

Mucopolysaccharidosis Type I (MPS I) Overview and Diagnosis

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.

Mucopolysaccharidosis Type I (MPS 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.

Mucopolysaccharidosis Type I (MPS I) Unmet Needs

The section “unmet needs of MPS I” outlines the critical gaps between the current state of patient care, diagnosis, and the ideal & effective management of the disease. It highlights the obstacles experienced by patients, clinicians, and researchers and identifies potential solutions for future progress.

• Delayed and inaccurate diagnosis
• Limitations in current treatments
• Bone and joint complications
• Access to specialized care
• Research and development gaps
• Need for standardized guidelines

and others…

Mucopolysaccharidosis Type I (MPS I) Epidemiology

Key Findings from Mucopolysaccharidosis Type I (MPS I) Epidemiological Analysis and Forecast

• 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 the year 2025, the United States represents the largest share, with nearly 240 cases, supported by more advanced screening systems and higher disease awareness.
• In 2025, EU4 and the UK together contribute ~400 cases, with the UK representing the largest individual European segment ~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.
• In 2025, EU4 and the UK accounted for a significant proportion of Hurler syndrome (MPS IH) cases, with approximately 240 diagnosed cases out of a total cases of MPS I in the region, reflecting the distribution of the disease based on clinical severity.

Mucopolysaccharidosis Type I (MPS I) Drug Analysis & Competitive Landscape

The MPS I drug chapter provides a detailed, market-focused review of approved therapies and the emerging pipeline across mid and late Phase clinical trials. It covers mechanism of action, clinical trial data, regulatory approvals, patents, collaborations, strategic partnerships upcoming Key catalyst for each therapy, along with their advantages, limitations, and recent developments. This section offers critical insights into the MPS I treatment landscape, supporting market assessment, competitive analysis, and growth forecasting for the MPS I therapeutics market.

Approved Therapies for Mucopolysaccharidosis Type I (MPS 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 appears colorless to pale yellow and clear to slightly opalescent. Prior to administration, it must be diluted in 0.9% Sodium Chloride Injection, USP. Developed by BioMarin Pharmaceutical and Genzyme Corporation, which Sanofi acquired later. ALDURAZYME plays a vital role in breaking down GAG by hydrolyzing IDUA residues, 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 (ALDURAZYME) is approved in the United States, Europe, and Japan for treating MPS I, providing enzyme replacement to address systemic manifestations of the disease, though with limited impact on central nervous system symptoms.

Mucopolysaccharidosis Type I (MPS 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. The anticipated planned approval in 2029/2030.
• OTL-203 has received Fast Track designations (FTD) and Rare Pediatric Disease designations (RPDD) from the US Food and Drug Administration, along with Priority Medicines (PRIME) status from the European Medicines Agency. The program originated from, and was initially developed in collaboration with, the San Raffaele Telethon Institute for Gene Therapy in Italy.

Mucopolysaccharidosis Type I (MPS I) Key Players, Market Leaders and Emerging Companies

• BioMarin Pharmaceutical
• Orchard Therapeutics
• JCR Pharmaceuticals
• Sanofi
• IMMUSOFT and others

Mucopolysaccharidosis Type I (MPS I) Drug Updates

• In July 2025, Orchard Therapeutics reported that the final patient had been treated in the registrational trial of OTL-203 for MPS-I Hurler Syndrome.
• In September 2024, JCR Pharmaceuticals presented data at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, showcasing investigational treatments for lysosomal storage disorders, including neurobehavioral and somatic improvements in MPS I patients treated with JR-171.
• In September 2022, IMMUSOFT reported that the US FDA had cleared its Investigational New Drug (IND) application for ISP-001, marking the first engineered B cell therapy to advance into clinical trials for the treatment of MPS I.
• In September 2021, the US FDA granted FTD to JCR Pharmaceuticals for JR-171, aimed at treating CNS symptoms of MPS I.

Mucopolysaccharidosis Type I (MPS 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.

Key marketed therapies shaping current management

• Laronidase (ALDURAZYME) - BioMarin Pharmaceutical/Sanofi: Laronidase (ALDURAZYME) is a recombinant human IDUA enzyme produced in CHO cells for IV infusion. It is supplied as a sterile, colorless to pale yellow solution and must be diluted before administration. The therapy breaks down accumulated glycosaminoglycans, addressing the enzyme deficiency in MPS I. ALDURAZYME carries a boxed warning for hypersensitivity reactions, including anaphylaxis, and infusion-related respiratory complications.

And more

Overall, in MPS I, the launch targeted biologics, improved diagnosis through autoantibody testing (e.g., Anti-AChR), and increasing disease awareness are expected to drive steady growth in the 7MM MPS I market from 2022-2036, with strong commercial implications for both marketed products and emerging pipelines.

• Among the 7MM, the United States accounted for the largest market size of MPS I, valued at approximately USD 75 million in 2025.
• The EU4 and the UK combined represented a significant market segment, with a total market size of approximately USD 70 million in 2025, driven by steady demand for enzyme replacement therapies.
• Japan accounted for a market size of approximately USD 10 million in 2025, representing the smallest but a growing portion of the total 7MM market.
• The most meaningful recent shift in the treatment landscape has been the focus on addressing the limitations of systemic ERT. While laronidase (ALDURAZYME) remains the standard of care across EU markets, the emergence of next-generation therapies like OTL-203 (Stem cell gene therapy) represents a significant leap. These advanced mechanisms aim 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.

Drug Class/Insights into Leading Emerging and Marketed Therapies in Mucopolysaccharidosis Type I (MPS I) (2022-2036 Forecast)

The treatment landscape of MPS I is rapidly evolving, with a diverse pipeline spanning Stem cell gene therapy, Recombinant DNA, IDUA Gene therapy, Engineered B cell therapy and Large-molecule, collectively aiming to deliver more targeted, durable, and potentially disease-modifying outcomes beyond conventional immunosuppression.

• Enzyme Replacement Therapy (ERT): With laronidase only delivers IDUA into circulation, with limited BBB penetration and a short half-life. HSCT modifies disease progression by improving cognitive outcomes, survival, growth, and organ function, though its impact on skeletal abnormalities, joint contractures, and corneal clouding is limited.
• Stem cell gene therapy: It is the standard of care for severe MPS I, especially in children under two, and an optional intervention for attenuated forms. It facilitates enzyme production by donor-derived cells, which cross the Blood-Brain Barrier (BBB) and differentiate into enzyme-secreting microglial cells, mitigating CNS involvement.

Mucopolysaccharidosis Type I (MPS I) Drug Uptake

This section focuses on the uptake rate of potential drugs expected to be launched in the market during the forecast period (2026-2036). The analysis covers the MPS I drug’s uptake, performance at peak, factors affecting performance during prime years of growth, patient uptake by therapy, and anticipated sales generated by each drug.

The emergence of next-generation therapies is expanding the treatment paradigm in MPS I, with a focus on overcoming the blood-brain barrier (BBB) to treat debilitating CNS complications. Lepunafusp alfa (JR-171), developed by JCR Pharmaceuticals, is an advanced BBB penetrating recombinant fusion protein designed to deliver the deficient IDUA enzyme directly into the brain. By leveraging the proprietary J-Brain Cargo platform to target transferrin receptors, it addresses the critical unmet need of neurological decline that standard ERTs fail to reach. Positioned as a transformative asset, it has successfully cleared Phase I/II clinical hurdles and is advancing through global development with an anticipated medium uptake trajectory, signaling a significant shift toward comprehensive systemic and cognitive disease management.

Market Access and Reimbursement of Approved therapies in Mucopolysaccharidosis Type I (MPS I)

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved 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.

Reimbursement is a crucial factor that affects the drug’s access to the market. Often, the decision to reimburse comes down to the price of the drug relative to the benefit it produces in treated patients. To reduce the healthcare burden of these high-cost therapies, many payment models are being considered by payers and other industry insiders.

Mucopolysaccharidosis Type I (MPS I) Therapies Price Scenario & Trends

Pricing and analogue assessment of MPS I therapies highlights evolving price dynamics structures. This section summarizes the cost of approved treatments, closest and most appropriate analogue selection for emerging therapies, and understanding of how pricing influences market access, adherence, and long-term uptake.

• Pricing of Mucopolysaccharidosis Type I (MPS I) Approved Drugs

Laronidase (ALDURAZYME), priced at approximately USD 680,000 annually, is highlighted in the Medicaid Managed Care Organization (MCO) FFY 2022 Drug Utilization Review (DUR) Annual Report as a new non-preferred drug, in alignment with Fee-for-Service (FFS) policies and established class criteria. While ALDURAZYME is approved for the treatment of conditions such as mucopolysaccharidosis, its high cost contributes to it not always being considered a first-line or readily accessible option. As a result, its use may require additional approval steps, including prior authorization, and may involve higher cost-sharing for beneficiaries. This classification is intended to promote the use of more cost-effective alternatives while still ensuring access to necessary therapies when clinically appropriate.

Industry Experts and Physician Views for Mucopolysaccharidosis Type I (MPS I)

To keep up with MPS I market trends, we take Key Opinion Leaders (KOLs) and Subject Matter Experts (SMEs) opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts were contacted for insights on the MPS I emerging therapies, evolving treatment landscape, patient adherence to conventional therapies, therapy switching trends, drug adoption and uptake, accessibility challenges, and epidemiology and real-world prescription patterns including MD, PhD, Instructor, Postdoctoral Researcher, Professor, Researcher, and others.

The analysts engaged with 8+ key opinion leaders (KOLs) across major markets to capture country-level insights in mucopolysaccharidosis type I (MPS I) Leading centers such as University of California and Royal College of Physicians, among others, were consulted to validate clinical practices, treatment patterns, and emerging therapeutic perspectives.

Their opinion helps understand and validate current and emerging MPS I, therapies, highlight unmet medical needs, provide epidemiological context, and support strategic decisions for Market access, therapy adoption, and pipeline prioritization in MPS I.

Qualitative Analysis: SWOT and Attribute Analysis

We perform qualitative and market Intelligence analysis using various approaches, such as SWOT analysis and attribute analysis.

In the SWOT analysis of MPS I, 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. Attribute analysis analyzes emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

The team of analysts analyzes promising emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, route of administration, and order of entry. In efficacy, the trial’s primary and secondary outcome measures are evaluated, whereas the therapies’ safety is evaluated, wherein the acceptability, tolerability, and adverse events are majorly observed. In addition, the scoring is also based on the route of administration, order of entry, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Scope of the Report

• The report covers a segment of key events, an executive summary, a descriptive overview of MPS I, explaining their causes, signs and symptoms, pathogenesis, and currently available treatments.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of the diagnosis rate, and disease progression along treatment guidelines.
• Additionally, an all-inclusive account of both the current and emerging treatments, along with the elaborative profiles of late-stage and prominent therapies, will have an impact on the current treatment landscape.
• A detailed review of the MPS I 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 in shaping and driving the 7MM MPS I market.

Report Insights

• Mucopolysaccharidosis Type I (MPS I) Patient Population Forecast
• Mucopolysaccharidosis Type I (MPS I) Therapeutics Market Size
• Mucopolysaccharidosis Type I (MPS I) Pipeline Analysis
• Mucopolysaccharidosis Type I (MPS I) Market Size and Trends
• Mucopolysaccharidosis Type I (MPS I) Market Opportunity (Current and forecasted)

Report Key Strengths

• Epidemiology‑Based (Epi‑based) Bottom‑up Forecasting
• Artificial Intelligence (AI)-enabled Market Research Report
• 11-year forecast
• Mucopolysaccharidosis Type I (MPS I) Market Outlook (North America, Europe, Asia-Pacific)
• Patient Burden Trends (by geography)
• Mucopolysaccharidosis Type I (MPS I) Treatment Addressable Market (TAM)

Mucopolysaccharidosis Type I (MPS I) Competitive Landscape

• Mucopolysaccharidosis Type I (MPS I) Major Companies Insights
• Mucopolysaccharidosis Type I (MPS I) Price trends and Analogue Assessment
• Mucopolysaccharidosis Type I (MPS I) Therapies Drug Adoption/Uptake
• Mucopolysaccharidosis Type I (MPS I) Therapies Peak Patient Share analysis

Report Assessment

• Mucopolysaccharidosis Type I (MPS I) Current Treatment Practices
• Mucopolysaccharidosis Type I (MPS I) Unmet Needs
• Mucopolysaccharidosis Type I (MPS I) Clinical Development Analysis
• Mucopolysaccharidosis Type I (MPS I) Emerging Drugs Product Profiles
• Mucopolysaccharidosis Type I (MPS I) Market Attractiveness
• Mucopolysaccharidosis Type I (MPS I) Qualitative Analysis (SWOT and Attribute analysis)

FAQs

Market Insights

• What was the MPS I market size, the market size by therapies, market share (%) distribution in 2025, and what would it look like by 2036? What are the contributing factors for this growth?
• What are the anticipated pricing variations among different geographies for the emerging therapies in the future?
• What can be the future treatment paradigm of MPS I?
• What are the disease risks, burdens, and unmet needs of MPS I? What will be the growth opportunities across the 7MM concerning the patient population with MPS I?
• Who is the major future competitor in the market, and how will the competitors affect their market share?
• What are the current options for the treatment of MPS I?
• What are the current guidelines for treating MPS I in the US, Europe, and Japan?

Reasons to Buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the MPS I market.
• Bottom up forecasting builds from the affected population to product forecasts, delivering a robust, data driven approach ideal for new therapies and novel classes.
• Insights on patient burden/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 and ranking of class-wise potential current and emerging therapies under the attribute analysis section to provide visibility around leading classes.
• To understand KOLs’ perspectives on 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.

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