Mucopolysaccharidosis Treatment Market Size & Share Analysis - Growth Trends and Forecast (2026 - 2031)

Global Mucopolysaccharidosis Treatment Market Trends and Insights

Expanding Newborn Screening Mandates

Mandatory inclusion of MPS I and MPS II in state panels has shortened diagnostic journeys from a median of 4.2 years to under six months, with 47 U.S. jurisdictions now screening for MPS I and 18 for MPS II.^{[1]Health Resources and Services Administration, “Recommended Uniform Screening Panel,” hrsa.gov} Early identification allows ERT before irreversible organ damage, lifting five-year survival from 68% to 91% in screened cohorts.^{[2]Genetics in Medicine, “Early ERT Outcomes,” gimjournal.org} Payers now see pre-symptomatic therapy lowering lifetime hospitalization costs by USD 1.2 million per patient, a dynamic that is motivating policymakers in the European Union to consider adding additional subtypes to national screening programs.

Regulatory Momentum for BBB-Penetrant ERT Approvals

Japan’s March 2024 green light for pabinafusp alfa ushered in the first enzyme engineered to traverse the blood-brain barrier. Seventy-two percent of patients showed stabilization or gains on Vineland Adaptive Behavior Scales after 52 weeks, a benchmark unmet by previous idursulfase regimens. ArmaGen’s fusion construct for MPS I entered late-stage U.S. trials in November 2024, with interim cerebrospinal fluid enzyme data expected mid-2026. These advances expand the addressable market because neuronopathic phenotypes represent 42% of cases but historically accounted for only 18% of ERT spending.

Surging Venture Investment in CNS-Targeted Gene Therapies

Developers raised USD 890 million across 2024-2025, with 63% earmarked for mucopolysaccharidosis programs. REGENXBIO’s USD 150 million January 2025 financing supports RGX-121’s filing, while Sangamo closed a USD 120 million injection from Pfizer to push ST-920 into the clinic. Trial infrastructure is scaling in lockstep, doubling global study sites from 34 to 67 between 2023 and 2025, which cut median enrollment time by more than half.

Rapid Adoption of Home-Infusion Models in High-Income Markets

Home delivery of ERT rose from 12% of total infusions in 2022 to 28% in 2025 across OECD countries. A 1,847-patient registry found no anaphylaxis and identical mild reaction rates to those in hospital settings, while cutting per-infusion cost from USD 3,200 to USD 1,800. BioMarin’s 2024 U.S. program lifted adherence to 94% and reduced emergency visits 38% within six months.

Reimbursement Caps for Ultra-High-Cost Orphan Biologics

England’s cost watchdog declined ERT funding with ICERs above GBP 1 million per QALY, and Germany cut galsulfase prices 22% after downgrading its benefit rating.^{[3]Institute for Quality and Efficiency in Health Care, “Galsulfase Benefit Assessment,” iqwig.de} Gene-therapy list prices of USD 2.5-4 million are triggering five-year outcome-based contracts, extending market-access timelines by up to 18 months.

Manufacturing Yield Bottlenecks for High-Dose AAV Vectors

Only four global CDMOs can routinely manufacture AAV9 batches above 1 × 10¹⁵ genomes, doubling lead times to 26 months and pushing RGX-121’s BLA from late 2024 into H2 2025. Vector production is climbing to 48% of list price, eroding commercial margins.

Segment Analysis

By Treatment Modality: Gene Therapy Gains Despite ERT Dominance

Enzyme replacement therapy held 73.81% of the mucopolysaccharidosis treatment market share in 2025, anchored by decades of longitudinal safety data and established reimbursement pathways. Gene therapy, however, is forecast to surge at a 9.26% CAGR through 2031, signaling a pivot toward one-time curative vectors that circumvent lifelong infusions. REGENXBIO’s RGX-121 achieved its primary endpoint in 19 of 21 evaluable patients, making a late-2026 FDA filing plausible. Stem-cell transplants remain a niche, with roughly 80 procedures annually worldwide, although Sangamo’s autologous zinc-finger approach could triple the addressable cohort.

The mucopolysaccharidosis gene therapy market is projected to accelerate once manufacturing constraints ease, yet payers are scrutinizing the post-treatment monitoring, which adds USD 80,000-120,000 per patient over 15 years. ERT incumbents face mounting price pressure; BioMarin’s laronidase revenue slipped 6% in 2024 despite moderate patient growth. Orchard’s OTL-203 produced 88% event-free survival at three-year follow-up, securing EMA PRIME status in January 2025.

Note: Segment shares of all individual segments available upon report purchase

By MPS Type: Sanfilippo Subtypes Drive Growth

MPS IV accounted for 33.17% of 2025 revenue, reflecting Vimizim’s prevalence of 1 in 200,000 births. The mucopolysaccharidosis treatment market, driven by MPS III, is growing fastest, thanks to intrathecal gene therapies that stabilize neurodegeneration. Lysogene’s AAV-SGSH delivered sustained enzyme activity with early cognitive stabilization in 14 of 17 patients. Abeona’s ABO-102 produced similar biochemical durability, though transient dorsal-root-ganglia MRI changes highlight safety vigilance.

MPS I and MPS II still account for 38% of consolidated revenue, but growth is tapering as biosimilar entrants near patent cliffs. Galsulfase generated USD 143 million in 2024, but ultra-rare conditions such as MPS VII remain sub-USD 30 million programs due to a prevalence of fewer than 1 in 1,000,000. Gene-therapy developers are increasingly targeting neuronopathic subtypes with dire natural histories, a strategy that both commands premium pricing and accelerates regulatory timelines.

By End User: Home Infusion Reshapes Delivery

Hospitals retained 45.72% of 2025 volume, driven by initiation doses and complex comorbidity management. Home infusion, nevertheless, is expanding at 11.66% yearly as insurers embrace bundled payments that lock in 12% ERT discounts in exchange for at-home administration mandates. Mucopolysaccharidosis treatment market share in home settings is set to rise steadily as more payers adopt Anthem’s model and EMA guidance standardizes caregiver training.

A 2024 claims analysis found that patients receiving ERT at home averaged 2.1 yearly hospitalizations, compared with 3.8 for peers receiving hospital-infused ERT, largely because remote monitoring detected reactions earlier. Specialty clinics serve 28% of demand and remain pivotal for physiotherapy and orthopedic coordination, whereas research centers account for 12% aligned with gene-therapy trials.

Note: Segment shares of all individual segments available upon report purchase

Geography Analysis

North America delivered 41.43% of 2025 revenue, underpinned by widespread newborn screening, high diagnosis rates, and favorable reimbursement. Europe followed at 32%, aided by national rare-disease plans that centralize procurement and negotiate volume rebates. The mucopolysaccharidosis treatment market in Asia-Pacific is forecast to grow the fastest, at a 13.42% CAGR through 2031, as Japan, China, and South Korea expand coverage.

Japan’s approval of pabinafusp alfa drove first-year sales of JPY 4.2 billion (USD 28 million). China’s CANbridge filed MPS I and II therapies in late 2024, targeting an estimated 1,200 diagnosed patients. South Korea reimbursed elosulfase alfa in January 2025, reflecting growing political will to fund ultra-rare therapies. Latin America and MEA combined represented 11% of 2025 revenue, constrained by diagnostic delays and fragmented payer systems; however, Brazil’s inclusion of laronidase and idursulfase into its high-cost drug program in April 2024 expanded access to roughly 340 patients.