Fabry Disease Treatment Market – Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Drugs (Agalsidase Beta, Migalastat, Others), By Treatment (Enzyme Replacement Therapy (ERT), Chaperone Treatment, Substrate Reduction Therapy (SRT), others), By Route of Administration (Oral, Parenteral, others), By Distribution Channel (Hospital pharmacies, Retail pharmacies, Online Pharmacies), By Region & Competition, 2021-2031F

Forecast Period	2027-2031
Market Size (2025)	USD 1.94 Billion
CAGR (2026-2031)	6.37%
Fastest Growing Segment	Online Pharmacies
Largest Market	North America
Market Size (2031)	USD 2.81 Billion

Market Overview

The Global Fabry Disease Treatment Market will grow from USD 1.94 Billion in 2025 to USD 2.81 Billion by 2031 at a 6.37% CAGR. The Global Fabry Disease Treatment Market encompasses the provision of enzyme replacement therapies (ERT) and chaperone treatments designed to address the deficiency of alpha-galactosidase A caused by genetic mutations. The market is primarily driven by the increasing implementation of newborn screening programs and favourable regulatory frameworks that incentivise the development of orphan drugs. These drivers facilitate earlier patient identification and encourage pharmaceutical investment in rare disease portfolios. According to the Fabry International Network, in 2025, the organisation coordinated 61 member associations across 57 countries, reflecting the expanding global diagnostic and advocacy infrastructure that underpins growing market demand.

However, the expansion of the market is significantly impeded by the high cost of lifelong therapy, which creates substantial reimbursement barriers. The financial burden placed on healthcare systems and patients restricts accessibility to approved treatments, particularly in regions with limited public health funding, presenting a persistent challenge to broader market penetration.

Key Market Drivers

The Robust Clinical Pipeline of Novel Therapeutics and Gene Therapies stands as a transformative driver, shifting the market trajectory from chronic enzyme management toward potential one-time curative interventions. Pharmaceutical developers are aggressively pursuing gene editing and mRNA technologies to address the root genetic cause of alpha-galactosidase A deficiency, thereby aiming to eliminate the lifelong burden of bi-weekly infusions. This rapid therapeutic evolution is evidenced by significant regulatory milestones in clinical trials. According to Sangamo Therapeutics, in May 2025, the company confirmed that all patients treated in the Phase 1/2 STAAR study of their gene therapy candidate ST-920 had successfully reached the 12-month follow-up mark required to support a Biologics License Application for accelerated approval. Such advancements signal a nearing commercial reality for curative options, attracting substantial investment into the sector.

Simultaneously, the Sustained Demand for Enzyme Replacement Therapies (ERT) continues to anchor the market’s immediate financial performance, driven by established efficacy profiles and expanding patient identification. As newborn screening programs increase the diagnosed pool, the uptake of standard-of-care infusion therapies remains the primary revenue generator for the industry. According to Sanofi, in January 2025, sales of the foundational ERT Fabrazyme reached €269 million in the fourth quarter of 2024 alone, representing a 12.4% increase largely attributed to improved treatment compliance and new patient starts. While ERT remains dominant, the overall market is also bolstered by high-value alternative modalities; according to Amicus Therapeutics, in February 2025, the oral chaperone Galafold generated full-year 2024 net product sales of $458.1 million, reflecting an 18% year-over-year growth that underscores the robust and diversifying economic health of the global treatment landscape.

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Key Market Challenges

The high cost of lifelong enzyme replacement and chaperone therapies creates a severe economic barrier that directly hampers the growth of the Global Fabry Disease Treatment Market. Although clinical demand is rising due to better diagnostics, the exorbitant per-patient expense forces healthcare payers and insurance bodies to implement strict cost-containment measures. these measures often manifest as rigorous prior authorization requirements, delayed coverage decisions, or outright denials of reimbursement. As a result, a disconnect emerges between regulatory approval and actual commercial uptake, preventing pharmaceutical developers from accessing the full addressable patient population and stalling revenue expansion.

This impact is quantifiable in the widening delays between drug approval and patient access. According to the European Federation of Pharmaceutical Industries and Associations, in 2025, the average waiting time for patients to access innovative medicines across Europe increased to 578 days, while only 29% of centrally approved treatments were fully available through public reimbursement systems. These statistics illustrate how financial and reimbursement hurdles act as a functional cap on market penetration, restricting the provision of approved therapies to only a fraction of eligible patients despite the availability of effective treatments.

Key Market Trends

The Introduction of Second-Generation Long-Acting Biobetter ERTs is fundamentally reshaping the standard of care by addressing the significant treatment burden associated with traditional bi-weekly infusions. Unlike first-generation enzyme replacement therapies, these novel PEGylated formulations utilize chemical modifications to extend plasma half-life and reduce immunogenicity, thereby offering patients the potential for less frequent dosing and improved long-term adherence. This shift toward optimized biologics is rapidly capturing market share from legacy treatments as healthcare providers prioritize therapies that balance efficacy with lifestyle convenience. According to Chiesi Farmaceutici, in April 2025, the company’s Global Rare Diseases business unit reported full-year 2024 revenues of €763 million, a 41% increase driven largely by the successful commercial expansion of its long-acting therapy Elfabrio.

Simultaneously, the Development of Novel Substrate Reduction Therapies is diversifying the treatment landscape by establishing an oral therapeutic avenue for patients ineligible for chaperone options. By inhibiting glucosylceramide synthase, these small molecules prevent the accumulation of globotriaosylceramide upstream of the enzymatic defect, offering a distinct mechanism of action that may provide superior tissue penetration compared to exogenous enzymes. Pharmaceutical developers are prioritizing rigorous long-term data generation to validate this approach for stabilizing cardiac and renal function. According to Sanofi, in April 2025, the company advanced its pivotal Phase 3 CARAT study for the oral inhibitor venglustat, which is designed with a total study duration of up to 5.3 years to assess sustained efficacy in reducing left ventricular mass.

Segmental Insights

The online pharmacies segment is currently identified as the fastest-growing distribution channel within the Global Fabry Disease Treatment Market. This accelerated expansion is primarily driven by the increasing adoption of oral chaperone therapies, which allow patients to manage their condition at home rather than requiring frequent clinical visits for intravenous infusions. Consequently, patients are prioritizing the convenience and streamlined accessibility of digital procurement for their lifelong maintenance medications. Furthermore, the implementation of rigorous verification standards by healthcare regulatory bodies regarding telepharmacy has enhanced the credibility of these platforms, ensuring the secure delivery of authentic therapeutics.

Regional Insights

North America maintains the leading position in the global Fabry disease treatment market, driven by established healthcare infrastructure and high diagnosis rates. The region benefits from substantial investment in research and development alongside the strong presence of key pharmaceutical manufacturers. Additionally, favorable reimbursement policies and patient assistance programs significantly improve access to costly orphan drugs. The United States Food and Drug Administration supports market growth through accelerated approval pathways for new therapies. This combination of regulatory support and commercial availability ensures the region remains the primary revenue generator globally.

Recent Developments

• In October 2024, Chiesi Global Rare Diseases announced the publication of results from the Phase 3 BRIGHT study, which evaluated a novel dosing regimen for its enzyme replacement therapy. The data assessed the safety and efficacy of pegunigalsidase alfa administered at 2 mg/kg every four weeks in adult patients who had previously received biweekly treatments of other therapies. The findings indicated that the investigational four-week dosing schedule maintained clinical stability in patients, suggesting a potential alternative to the standard two-week administration. This development highlighted the company's commitment to exploring more convenient treatment intervals for the global Fabry disease community.
• In October 2024, Sangamo Therapeutics announced that it had reached an alignment with the U.S. Food and Drug Administration regarding an accelerated approval pathway for its investigational gene therapy, isaralgagene civaparvovec. The regulatory agency agreed that data from the ongoing Phase 1/2 STAAR study could serve as the primary basis for a Biologics License Application, thereby eliminating the requirement for an additional registrational trial. The company confirmed its expectation to submit the application in the second half of 2025. This regulatory milestone represented a significant advancement in accelerating the potential delivery of this one-time treatment to patients with Fabry disease.
• In September 2024, uniQure N.V. announced that the U.S. Food and Drug Administration had granted Orphan Drug Designation to AMT-191, its investigational gene therapy for the treatment of Fabry disease. This special status was awarded shortly after the company initiated patient dosing in a Phase 1/2a clinical trial within the United States. AMT-191 is developed as a one-time, intravenously administered therapy that delivers a transgene to the liver to produce the alpha-galactosidase A enzyme. The designation provided the company with various development incentives, supporting its strategy to advance a differentiated therapeutic option for patients suffering from this rare genetic disorder.
• In August 2024, 4D Molecular Therapeutics reported that the U.S. Food and Drug Administration had lifted the clinical hold on its Phase 1/2 INGLAXA clinical trial. The study was established to evaluate the safety and efficacy of 4D-310, an investigational genetic medicine specifically designed for the treatment of Fabry disease cardiomyopathy. Following this regulatory clearance, the company announced its plans to resume patient enrollment and dosing at clinical sites. This decision allowed the biotechnology firm to continue gathering critical data on the therapy's potential to address the cardiac manifestations of the disease, which remain a major cause of morbidity.

Key Market Players

• Genzyme Corporation
• Takeda Pharmaceutical Company Limited
• Amicus Therapeutics, Inc
• ISU ABXIS Co Ltd.
• JCR Pharmaceuticals Co., Ltd.
• Protalix BioTherapeutics Inc.
• Chiesi Farmaceutici S.p.A.
• Freeline Therapeutics Holdings PLC
• Yuhan Corporation
• M6P Therapeutics Inc.

By Drugs	By Treatment	By Route of Administration	By Distribution Channel	By Region
Agalsidase Beta Migalastat Others	Enzyme Replacement Therapy (ERT) Chaperone Treatment Substrate Reduction Therapy (SRT) others	Oral Parenteral others	Hospital pharmacies Retail pharmacies Online Pharmacies	North America Europe Asia Pacific South America Middle East & Africa

Report Scope:

In this report, the Global Fabry Disease Treatment Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Fabry Disease Treatment Market, By Drugs:

• Agalsidase Beta
• Migalastat
• Others

• Fabry Disease Treatment Market, By Treatment:

• Enzyme Replacement Therapy (ERT)
• Chaperone Treatment
• Substrate Reduction Therapy (SRT)
• others

• Fabry Disease Treatment Market, By Route of Administration:

• Oral
• Parenteral
• others

• Fabry Disease Treatment Market, By Distribution Channel:

• Hospital pharmacies
• Retail pharmacies
• Online Pharmacies

• Fabry Disease Treatment Market, By Region:

• North America
• United States
• Canada
• Mexico
• Europe
• France
• United Kingdom
• Italy
• Germany
• Spain
• Asia Pacific
• China
• India
• Japan
• Australia
• South Korea
• South America
• Brazil
• Argentina
• Colombia
• Middle East & Africa
• South Africa
• Saudi Arabia
• UAE