In 2024, the United States led the Fabry Disease therapeutics market, accounting for approximately 52% of the total 7MM market and generating close to USD 880 million, making it the largest regional contributor. The market is expected to witness notable expansion through 2034. Fabry disease is a rare X-linked genetic condition caused by mutations in the alpha-galactosidase gene, resulting in gradual damage to multiple organs. While expanded newborn screening programs are enabling earlier diagnosis, many adult patients continue to suffer from serious complications by middle age.
Currently available treatments primarily include enzyme replacement therapies (ERTs) and pharmacological chaperone therapy. Widely marketed therapies such as FABRAZYME, REPLAGAL, GALAFOLD, and ELFABRIO employ different approaches to compensate for enzyme deficiency. FABRAZYME remains the most commonly used ERT in the United States, whereas REPLAGAL has a strong foothold in Europe and Japan. ELFABRIO, the latest approved therapy, has received authorization in both the US and EU, with additional regulatory efforts underway to enable monthly dosing.
The competitive environment features established players including Amicus Therapeutics, Sanofi (Genzyme), Takeda, CHIESI–Protalix, Sangamo Therapeutics, and uniQure. The development pipeline includes several promising candidates such as Venglustat, ST-920 gene therapy, and additional assets like lucerastat, 4D-310, and AMT-191, although some programs have encountered efficacy or safety hurdles. Early-stage therapies, including AceLink’s AL01211, also demonstrate initial potential.
Continued progress in clinical research, advances in gene therapy, growing disease awareness, and improvements in diagnostic practices are anticipated to fuel long-term market growth and enhance patient outcomes in Fabry disease.
DelveInsight’s “Fabry Disease Market Insights, Epidemiology, and Market Forecast – 2034” report provides a comprehensive analysis of Fabry disease, including historical and projected epidemiology and market trends across the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan. The report evaluates existing treatment paradigms, emerging therapies, individual drug market shares, and Fabry Disease market size forecasts from 2020 to 2034 across the seven major markets. Additionally, it examines current treatment algorithms, key growth drivers, market constraints, and unmet needs to identify future opportunities and assess the overall potential of the Fabry Disease market.
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Key Highlights from the Fabry Disease Market Report
- DelveInsight projects that the Fabry Disease market will grow at a steady CAGR through 2034.
- Based on DelveInsight’s estimates, the Fabry Disease market across the 7MM was valued at approximately USD 1.7 billion in 2024.
- In 2022, the total number of diagnosed prevalent Fabry Disease cases in the 7MM was estimated at 15,290, with patient numbers expected to rise during the 2019–2034 study period.
- Major companies operating in the Fabry Disease market include Protalix Biotherapeutics, Sanofi Genzyme, Sangamo Therapeutics, Freeline Therapeutics, 4D Molecular Therapeutics, Idorsia Pharmaceuticals, GREENOVATION BIOTECH GMBH, Shire, Takeda, Amicus Therapeutics, uniQure, Codexis, MP6 Therapeutics, CellGenTech, and others.
- Key Fabry Disease therapies anticipated to enter the market include PRX-102 (Pegunigalsidase alfa), Venglustat, ST-920, FLT190, 4D-310, Lucerastat, Moss-aGal, and additional candidates.
Recent Developments
- February 2026: Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today announced detailed data from the registrational Phase 1/2 STAAR study evaluating isaralgagene civaparvovec, or ST-920, a wholly owned gene therapy product candidate for the treatment of Fabry disease.
- January 2026: Idorsia Ltd (SIX: IDIA) announces the publication of results from the pivotal Phase 3 MODIFY study and its open-label extension (OLE) evaluating lucerastat, an oral substrate reduction therapy, in adults with Fabry disease. The data, published in Nature Communications, titled “Lucerastat, an oral therapy for Fabry disease: Results from a pivotal phase 3 study and its open-label extension”, reinforce lucerastat’s potential to address key unmet needs in Fabry disease, particularly in patients with renal impairment.
- January 2026: Chiesi Global Rare Diseases, a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people living with rare diseases, and Protalix BioTherapeutics, Inc. (NYSE American: PLX), a biopharmaceutical company focused on the discovery, development, production and commercialization of innovative therapeutics for rare diseases with significant unmet needs, today announced an update on pegunigalsidase alfa. The Committee for Medicinal Product for Human Use (CHMP) of the European Medicines Agency (EMA) has issued a positive opinion recommending approval of the 2mg/kg every-4-weeks (E4W) dosing regimen for pegunigalsidase alfa in Fabry disease adult patients stable with an enzyme replacement therapy. This positive opinion follows the CHMP’s re-examination of the company’s application for the additional dosing regimen.
- November 2025: Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicine company, today announced that the U.S. Food and Drug Administration (FDA) has accepted Sangamo’s request for a rolling submission and review of the Biologics License Application (BLA) for isaralgagene civaparvovec, or ST-920, a wholly owned investigational gene therapy for the treatment of adults with Fabry disease.
- May 2025: All patients treated with Sangamo Therapeutics’ gene therapy ST-920 (isaralgagene civaparvovec) in a Phase 1/2 study achieved the FDA-mandated one-year follow-up milestone, allowing progression toward accelerated approval. A pivotal data readout is expected by the end of June. The FDA has previously indicated that data from the ongoing STAAR trial (NCT04046224) may be sufficient for accelerated approval, potentially eliminating the need for additional trials.
- March 2025: Sangamo Therapeutics confirmed alignment with the FDA on pursuing an accelerated approval strategy for ST-920, with plans to submit a Biologics License Application (BLA) in the second half of 2025.
- February 2025: Amicus Therapeutics presented oral and poster sessions showcasing its migalastat development programs at the 21st Annual WORLD Symposium.
- January 2025: Idorsia Pharmaceuticals announced expectations to receive Phase III open-label extension study results in Q2 2025, followed by regulatory discussions with the US FDA.
- January 2025: Sanofi indicated that regulatory submissions for venglustat in Fabry disease are planned for 2026.
- December 2024: CHIESI Farmaceutici and Protalix BioTherapeutics reported EMA validation of a variation submission for pegunigalsidase alfa, enabling a reduced dosing frequency of 2 mg/kg every four weeks in adult Fabry patients.
- September 2024: uniQure stated that regulatory designations for its Phase I/IIa study would support rapid generation of proof-of-concept data, with initial results anticipated in 2025.
- March 2024: Sanofi released Phase 4 study results evaluating the safety of increasing infusion rates and reducing infusion volume for Fabrazyme at approved doses.
- April 2024: 4D Molecular Therapeutics announced results from an open-label Phase 1/2a trial of gene therapy 4D-310 in adults with Fabry disease and cardiac involvement.
Fabry Disease Overview
Fabry disease is a rare X-linked lysosomal storage disorder resulting from mutations in the GLA gene, leading to insufficient activity of the α-galactosidase A enzyme. This deficiency causes accumulation of globotriaosylceramide (Gb3) in multiple organs, including the kidneys, heart, and nervous system. Clinical manifestations range from neuropathic pain, heat intolerance, angiokeratomas, and gastrointestinal symptoms to severe outcomes such as renal failure, cardiomyopathy, arrhythmias, and stroke. Although both males and females are affected, disease severity varies, with late-onset forms being more prevalent and frequently diagnosed in adulthood. Advances in newborn screening and genetic testing are improving early detection. Current management includes ERTs like FABRAZYME and REPLAGAL and chaperone therapy such as GALAFOLD. Novel approaches, including substrate reduction and gene therapies, are expected to offer more sustained and targeted disease control.
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Fabry Disease Market Outlook
The Fabry Disease therapeutics market across the 7MM was valued at approximately USD 1.7 billion in 2024, with the United States contributing about 52% (USD ~880 million). Europe followed, led by Germany (~USD 210 million), while Spain represented the smallest share (~USD 82 million). Japan accounted for roughly USD 150 million, or 9% of the total market.
ERTs—FABRAZYME, REPLAGAL, and ELFABRIO—along with the oral chaperone therapy GALAFOLD, remain the backbone of treatment. GALAFOLD is effective in approximately 35–50% of patients with amenable GLA mutations. Despite their effectiveness, ERTs face challenges including frequent intravenous administration and the development of antidrug antibodies.
Pipeline therapies such as venglustat, ST-920, 4D-310, and AMT-191 aim to enhance enzyme delivery and introduce gene-based solutions. Growing prevalence, improved diagnostic capabilities, and continued pipeline innovation are key market growth drivers, while unmet pediatric needs and uncertainties around long-term efficacy remain significant challenges.
Fabry Disease Market Drivers
- Increased awareness and early diagnosis through expanded newborn screening programs
- Limited number of approved therapies, creating demand for innovative options
- Robust pipeline activity involving next-generation ERTs, SRTs, and gene therapies
- Regulatory approvals and label expansions for therapies like ELFABRIO and GALAFOLD
- High unmet medical need driven by progressive organ damage and reduced quality of life
Fabry Disease Market Barriers
- High costs associated with ERTs and advanced therapies
- Complexity in disease management due to phenotypic variability
- Lack of curative treatments; gene therapies remain in early development
- Clinical setbacks and safety concerns for certain pipeline candidates
- Small patient population limiting commercial scalability
Fabry Disease Epidemiology
In 2024, approximately 9,200 diagnosed prevalent Fabry Disease cases were reported in the United States, representing nearly 52% of the total 7MM population. The EU4 and the UK accounted for around 38%, while Japan contributed approximately 10%. Germany reported the highest number of diagnosed cases in Europe (~2,170), whereas Spain reported the lowest.
In the US, late-onset Fabry disease accounted for the majority of cases (~5,860), compared to about 3,300 classic phenotype cases. By age, prevalence peaked among individuals aged 10–19 years (~1,920 cases), followed by 20–29 years (~1,780), 30–39 years (~1,700), 40–49 years (~1,430), and roughly 1,180 cases each in the 50+ age group.
These patterns underscore the dominance of late-onset disease and the importance of early diagnosis and intervention.
Fabry Disease Epidemiology Segmentation
- Total diagnosed prevalent Fabry Disease cases
- Gender-specific diagnosed prevalence
- Age-specific diagnosed prevalence
- Phenotype-specific diagnosed prevalence
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Fabry Disease Competitive Landscape (Selected Therapies)
Venglustat (Sanofi/Genzyme): An oral substrate reduction therapy targeting glucosylceramide synthase, designed to decrease glycosphingolipid accumulation. Phase III data are expected in H2 2025, with potential regulatory submissions in 2026.
Lucerastat (Idorsia): A small-molecule SRT with broad genotype applicability. Despite missing its primary endpoint in the Phase III MODIFY trial, long-term extension results are anticipated in Q2 2025.
ST-920 / Isaralgagene civaparvovec (Sangamo): A liver-directed AAV gene therapy delivering a functional GLA gene via single IV infusion. Accelerated approval discussions are ongoing, with a BLA submission planned for H2 2025.
AMT-191 (uniQure): An AAV5-based gene therapy designed for one-time correction of enzyme deficiency. Phase I/IIa development is progressing, supported by orphan drug and fast-track designations.
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Fabry Disease Pipeline Therapies and Key Companies
- PRX-102 (Pegunigalsidase alfa): Protalix Biotherapeutics
- Venglustat: Sanofi Genzyme
- ST-920: Sangamo Therapeutics
- FLT190: Freeline Therapeutics
- 4D-310: 4D Molecular Therapeutics
- Lucerastat: Idorsia Pharmaceuticals
- Moss-aGal: GREENOVATION BIOTECH GMBH
Fabry Disease Therapeutics Assessment
Major key companies are working proactively in the Fabry Disease Therapeutics market to develop novel therapies which will drive the Fabry Disease treatment markets in the upcoming years are Protalix Biotherapeutics (NYSE: PLX), Sanofi Genzyme (EPA: SAN), Sangamo Therapeutics (NASDAQ: SGMO), Freeline Therapeutics (NASDAQ: FRLN), 4D Molecular Therapeutics (NASDAQ: FDMT), Idorsia Pharmaceuticals (SWX: IDIA), GREENOVATION BIOTECH GMBH, Shire (formerly NASDAQ: SHPG), Takeda (TSE: 4502), Amicus Therapeutics (NASDAQ: FOLD), uniQure (NASDAQ: QURE), Codexis (NASDAQ: CDXS), MP6 Therapeutics, CellGenTech, Protalix (NYSE: PLX) and others.
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Fabry Disease Report Key Insights
1. Fabry Disease Patient Population
2. Fabry Disease Market Size and Trends
3. Key Cross Competition in the Fabry Disease Market
4. Fabry Disease Market Dynamics (Key Drivers and Barriers)
5. Fabry Disease Market Opportunities
6. Fabry Disease Therapeutic Approaches
7. Fabry Disease Pipeline Analysis
8. Fabry Disease Current Treatment Practices/Algorithm
9. Impact of Emerging Therapies on the Fabry Disease Market
Table of Contents
1. Key Insights
2. Executive Summary
3. Fabry Disease Competitive Intelligence Analysis
4. Fabry Disease Market Overview at a Glance
5. Fabry Disease Disease Background and Overview
6. Fabry Disease Patient Journey
7. Fabry Disease Epidemiology and Patient Population
8. Fabry Disease Treatment Algorithm, Current Treatment, and Medical Practices
9. Fabry Disease Unmet Needs
10. Key Endpoints of Fabry Disease Treatment
11. Fabry Disease Marketed Products
12. Fabry Disease Emerging Therapies
13. Fabry Disease Seven Major Market Analysis
14. Attribute Analysis
15. Fabry Disease Market Outlook (7 major markets)
16. Fabry Disease Access and Reimbursement Overview
17. KOL Views on the Fabry Disease Market
18. Fabry Disease Market Drivers
19. Fabry Disease Market Barriers
20. Appendix
21. DelveInsight Capabilities
22. Disclaimer
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