Fabry Disease Market: Epidemiology, Therapies, Companies, DelveInsight | Amicus Therapeutics, CHIESI Farmaceutici and Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceuticals, Sangamo Therapeutics, UniQure Biopharma

Fabry Disease emerging therapies, such as Venglustat, Isaralgagene civaparvovec (ST-920), AMT-191, and others, are expected to boost the Fabry Disease Market in the upcoming years.

DelveInsight has launched a new report on "Fabry Disease - Market Insights, Epidemiology, and Market Forecast-2034" that delivers an in-depth understanding of the Fabry Disease, historical and forecasted epidemiology as well as the Fabry Disease market trends in the United States, EU5 (Germany, Spain, Italy, France, and United Kingdom) and Japan.

Discover about the Fabry Disease market report @ https://www.delveinsight.com/report-store/fabry-disease-market?utm_source=openpr&utm_medium=pressrelease&utm_campaign=kpr

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

**FABRAZYME** is the only FDA-approved enzyme replacement therapy (ERT) for **Fabry disease** in the U.S. for patients aged 2 years and older. Meanwhile, **REPLAGAL**-approved in Europe for patients 7 years and above-remains unavailable in the U.S. Despite this, REPLAGAL has maintained a strong presence in Europe and Japan for over 20 years due to its proven efficacy and lack of biosimilar alternatives.
A next-generation ERT, **ELFABRIO**, has recently entered the Fabry disease market. Approved in both the U.S. and EU for adults, it currently requires bi-weekly administration, though a monthly dosing schedule is under EMA review.
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 with encouraging efficacy and safety profiles include **venglustat** (Sanofi/Genzyme) and **ST-920** (Sangamo Therapeutics).
Other therapies in development include **lucerastat** (Idorsia), **4D-310** (4D Molecular Therapeutics), and **AMT-191** (UniQure). However, these face various hurdles: lucerastat failed to meet its main endpoint, 4D-310 encountered safety-related clinical holds, and AMT-191 remains in early development with no efficacy data yet. 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).
Among other emerging candidates is **AL01211** from AceLink Therapeutics-an oral small-molecule glucosylceramide synthase inhibitor. It has shown promise in reducing globotriaosylceramide buildup and managing symptoms. Though Phase II trials have been approved in the U.S. and China, clinical activity in the 7MM markets has yet to begin.
In 2024, the United States recorded approximately 9,200 diagnosed prevalent cases of Fabry disease. That year, the U.S. accounted for the largest share-about 52%-of the total diagnosed cases across the 7 major markets (7MM). In comparison, the combined regions of the EU4 and the UK represented around 38% of the total cases, while Japan contributed roughly 10% of the diagnosed Fabry disease population.
Overall, the future of Fabry disease management looks promising, especially with the emergence of **gene therapies**, which could significantly enhance treatment efficacy. Meanwhile, increased disease awareness and improved diagnostic tools remain essential for earlier intervention and improved patient outcomes.
Key Fabry Disease companies such as Amicus Therapeutics, CHIESI Farmaceutici and Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceuticals, Sangamo Therapeutics, UniQure Biopharma, and others are evaluating new drugs for Fabry Disease to improve the treatment landscape.
Promising Fabry Disease therapies include Venglustat, Isaralgagene civaparvovec (ST-920), AMT-191, ELFABRIO (PRX-102/pegunigalsidase alfa), GALAFOLD (migalastat), and others.

Fabry Disease Overview

Fabry disease is a rare genetic condition caused by a deficiency of the enzyme alpha-galactosidase A, which impairs the body's ability to break down certain fatty substances. As a result, globotriaosylceramide (GL-3) builds up in cells across various organs, leading to progressive damage in the heart, kidneys, and nervous system. Symptoms typically emerge in childhood and may include burning sensations in the hands and feet, skin abnormalities (angiokeratomas), gastrointestinal discomfort, and reduced ability to sweat.

As the condition progresses, it can lead to severe health issues such as kidney failure, cardiovascular disease, and stroke. Although there is no definitive cure, enzyme replacement therapy (ERT) and chaperone therapy can help manage symptoms, slow disease progression, and enhance quality of life. Timely diagnosis and proactive treatment are essential to minimizing long-term complications and improving patient outcomes.

Fabry Disease Market Outlook

Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the *galactosidase-α* gene, impairing the function of the α-GAL A enzyme. Newborn screening (NBS) has enhanced early diagnosis and prevalence estimates, supporting timely intervention. The U.S. leads in market size, followed by Europe and Japan.

Treatment primarily involves enzyme replacement therapy (ERT), oral chaperone therapy, and supportive medications like ACE inhibitors and pain relievers. While ERT slows disease progression, comprehensive care-including lifestyle changes and preventive strategies-is crucial for effective management.

The treatment landscape includes several approved therapies: ELFABRIO, GALAFOLD, and FABRAZYME in the U.S.; four options in Europe; and two (REPLAGAL and GALAFOLD) in Japan. Japan is unique in offering agalsidase beta biosimilars, such as JR-051 by JCR Pharmaceuticals, following FABRAZYME's patent expiry.

FABRAZYME (agalsidase beta), by Sanofi-Genzyme, has been FDA-approved since 2003 and is distributed globally. REPLAGAL (agalsidase alfa), by Shire (now Takeda), remains widely used in Europe and Japan despite not gaining 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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Related Reports:

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.

Contact Info:

Kritika Rehani, Assistant Manager, Marketing & Branding
krehani@delveinsight.com
info@delveinsight.com
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+14699457679

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.

This release was published on openPR.