Fabry Disease Market Analysis: Epidemiology Insights, Therapies, Companies, By Delveinsight Amicus Therapeutics, CHIESI Farmaceutici And Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceut

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"Fabry Disease Market Analysis"The Fabry Disease Treatment Market Size was valued ~USD 1,700 million in 2024 and is anticipated to grow with a significant CAGR during the study period (2020-2034).

Emerging therapies for Fabry Disease, including Venglustat, Isaralgagene civaparvovec (ST-920), AMT-191, and others, are anticipated to drive market growth in the coming years.

DelveInsight has released a new report,“Fabry Disease – Market Insights, Epidemiology, and Market Forecast 2034,” providing comprehensive insights into the disease, covering historical and projected epidemiology as well as market trends across the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan.

Discover about the Fabry Disease market report

Some of the key facts of the Fabry Disease Market Report:

• Fabrazyme is currently the only FDA-approved enzyme replacement therapy (ERT) for Fabry disease in the U.S., indicated for patients aged 2 years and older. In contrast, Replagal-approved in Europe for patients 7 years and above-remains unavailable in the U.S. Nevertheless, Replagal has sustained a strong presence in Europe and Japan for more than two decades, supported by its proven efficacy and the absence of biosimilar competition.

• A newer ERT, Elfabrio, has recently entered the Fabry disease market. Approved in both the U.S. and EU for adults, it is administered bi-weekly, although a monthly dosing regimen is currently under review by the EMA.

• The treatment pipeline for Fabry disease continues to expand with promising mid- and late-stage therapies, including substrate reduction therapies (SRTs) and gene therapies. Leading candidates showing encouraging efficacy and safety include venglustat (Sanofi/Genzyme) and ST-920 (Sangamo Therapeutics).

• Other therapies in development are lucerastat (Idorsia), 4D-310 (4D Molecular Therapeutics), and AMT-191 (UniQure). Each, however, faces challenges: lucerastat did not meet its primary endpoint, 4D-310 has been subject to safety-related clinical holds, and AMT-191 remains in early development with no efficacy data available. As of February 2025, UniQure completed enrollment in the first cohort of its Phase I/IIa trial for AMT-191, with initial safety data reviewed by the Independent Data Monitoring Committee (IDMC).

• Another emerging therapy is AL01211 from AceLink Therapeutics, an oral small-molecule glucosylceramide synthase inhibitor. It has demonstrated potential in lowering globotriaosylceramide accumulation and alleviating symptoms. While Phase II trials have been approved in the U.S. and China, studies in the 7MM markets have not yet commenced.

• In 2024, the United States recorded about 9,200 diagnosed prevalent cases of Fabry disease, accounting for roughly 52% of the total cases across the seven major markets (7MM). The EU4 and the UK together represented around 38%, while Japan contributed close to 10%.

• The future of Fabry disease treatment appears promising, particularly with the advancement of gene therapies, which may significantly improve efficacy. At the same time, greater disease awareness and better diagnostic tools will be essential for earlier detection and improved outcomes.

• Key companies active in the Fabry disease space include Amicus Therapeutics, CHIESI Farmaceutici, Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceuticals, Sangamo Therapeutics, UniQure Biopharma, and others.

• Promising therapies under development include Venglustat, Isaralgagene civaparvovec (ST-920), AMT-191, Elfabrio (PRX-102/pegunigalsidase alfa), Galafold (migalastat), and additional candidates.

Fabry Disease Overview

Fabry disease is a rare inherited disorder caused by a deficiency of the enzyme alpha-galactosidase A, which disrupts the breakdown of certain fatty substances. This leads to the accumulation of globotriaosylceramide (GL-3) in cells, gradually damaging organs such as the heart, kidneys, and nervous system. Symptoms often begin in childhood and may include burning pain in the hands and feet, clusters of small skin lesions (angiokeratomas), digestive issues, and reduced sweating.

As the disease advances, it can result in serious complications including kidney failure, cardiovascular disease, and stroke. While there is currently no definitive cure, enzyme replacement therapy (ERT) and chaperone therapy can help alleviate symptoms, slow disease progression, and improve quality of life. Early diagnosis and timely intervention are crucial to reducing long-term complications and enhancing outcomes for patients.

Fabry Disease Market Outlook

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the galactosidase-α gene, which impair the function of the α-GAL A enzyme. The adoption of newborn screening (NBS) has improved early diagnosis and prevalence estimates, enabling more timely intervention. In terms of market size, the U.S. leads, followed by Europe and Japan.

Current treatment mainly consists of enzyme replacement therapy (ERT), oral chaperone therapy, and supportive medications such as ACE inhibitors and pain relievers. While ERT helps slow disease progression, effective management requires comprehensive care that also includes lifestyle modifications and preventive strategies.

The therapeutic landscape features several approved options: ELFABRIO, GALAFOLD, and FABRAZYME in the U.S.; four available therapies in Europe; and two-REPLAGAL and GALAFOLD-in Japan. Notably, Japan is distinct in offering agalsidase beta biosimilars, such as JR-051 by JCR Pharmaceuticals, following the patent expiration of FABRAZYME.

FABRAZYME (agalsidase beta), developed by Sanofi Genzyme, has been FDA-approved since 2003 and is distributed worldwide. REPLAGAL (agalsidase alfa), produced by Shire (now Takeda), remains a widely used treatment in Europe and Japan, although it never received FDA approval in the U.S.

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Fabry Disease Marketed Drugs

• GALAFOLD (migalastat): Amicus Therapeutics

• ELFABRIO (PRX-102/pegunigalsidase alfa): CHIESI Farmaceutici and Protalix Biotherapeutics

Fabry Disease Emerging Drugs

• Venglustat: Sanofi (Genzyme)

• Isaralgagene civaparvovec (ST-920): Sangamo Therapeutics

• AMT-191: UniQure Biopharma

Scope of the Fabry Disease Market Report

• Study Period: 2020-2034

• Coverage: 7MM [The United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan]

• Key Fabry Disease Companies: Amicus Therapeutics, CHIESI Farmaceutici and Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceuticals, Sangamo Therapeutics, UniQure Biopharma, and others

• Key Fabry Disease Therapies: Venglustat, Isaralgagene civaparvovec (ST-920), AMT-191, ELFABRIO (PRX-102/pegunigalsidase alfa), GALAFOLD (migalastat), and others

• Fabry Disease Therapeutic Assessment: Fabry Disease current marketed and Fabry Disease emerging therapies

• Fabry Disease Market Dynamics: Fabry Disease market drivers and Fabry Disease market barriers

• Competitive Intelligence Analysis: SWOT analysis, PESTLE analysis, Porter's five forces, BCG Matrix, Market entry strategies

• Fabry Disease Unmet Needs, KOL's views, Analyst's views, Fabry Disease Market Access and Reimbursement

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Key benefits of the Fabry Disease Market Report:

Fabry Disease market report covers a descriptive overview and comprehensive insight of the Fabry Disease Epidemiology and Fabry Disease market in the 7MM (the United States, EU5 (Germany, Spain, France, Italy, UK) & Japan).

The Fabry Disease market report provides insights into the current and emerging therapies.

The Fabry Disease market report provides a global historical and forecasted market covering drug outreach in 7MM.

The Fabry Disease market report offers an edge that will help in developing business strategies by understanding trends shaping and driving the Fabry Disease market.

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Table of Contents

1. Report Introduction

2. Executive Summary

3. SWOT analysis

4. Fabry Disease Patient Share (%) Overview at a Glance

5. Fabry Disease Market Overview at a Glance

6. Fabry Disease Disease Background and Overview

7. Fabry Disease Epidemiology and Patient Population

8. Country-Specific Patient Population of Fabry Disease

9. Fabry Disease Current Treatment and Medical Practices

10. Unmet Needs

11. Fabry Disease Emerging Therapies

12. Fabry Disease Market Outlook

13. Country-Wise Fabry Disease Market Analysis (2020–2034)

14. Market Access and Reimbursement of Therapies

15. Market drivers

16. Market barriers

17. Appendix

18. Fabry Disease Report Methodology

19. DelveInsight Capabilities

20. Disclaimer

21. About DelveInsight

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Fabry Disease Pipeline Insights, DelveInsight

"Fabry Disease Pipeline Insight, 2024" report by DelveInsight outlines comprehensive insights of present clinical development scenarios and growth prospects across the Fabry Disease market. A detailed picture of the Fabry Disease pipeline landscape is provided, which includes the disease overview and Fabry Disease treatment guidelines.

About DelveInsight

DelveInsight is a leading Business Consultant and Market Research firm focused exclusively on life sciences. It supports Pharma companies by providing comprehensive end-to-end solutions to improve their performance.

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