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.
Some of the key facts of the Fabry Disease Market Report:
In 2024, the Fabry disease market was the largest in the United States among the 7MM (US, EU5, and Japan), valued at approximately USD 880 million. This figure is projected to rise at a notable CAGR throughout the forecast period (2020–2034).
In 2024, there were approximately 9,200 diagnosed prevalent cases of Fabry disease in the United States. The U.S. represented about 52% of the total diagnosed cases across the 7 major markets (7MM) in 2024, while the combined population of the EU4 countries and the UK accounted for roughly 38%, and Japan contributed around 10% of the overall share.
Treatment for Fabry disease primarily involves Enzyme Replacement Therapies (ERTs) and chaperone therapy. Currently marketed therapies — including FABRAZYME (Sanofi [Genzyme]), REPLAGAL (Takeda Pharmaceuticals), GALAFOLD (Amicus Therapeutics), and ELFABRIO (Chiesi Farmaceutici and Protalix Biotherapeutics) — provide patients with a range of options to address enzyme deficiencies, helping to alleviate symptoms and slow disease progression.
FABRAZYME is approved by the FDA for patients aged two years and older and serves as the leading ERT in the U.S. market. Meanwhile, REPLAGAL is available for patients aged seven and above in Europe but has not been approved in the U.S. Despite this, REPLAGAL has maintained strong market presence in Europe and Japan for over 20 years, supported by consistent efficacy and minimal competition from biosimilars.
A new addition to the treatment landscape, ELFABRIO, has been approved for adult Fabry patients in both the U.S. and Europe. It currently follows a bi-weekly dosing regimen, with efforts underway to gain approval for monthly dosing by the EMA.
The Fabry disease treatment market is promising, with several late- and mid-stage therapies under development, including Substrate Reduction Therapies (SRTs) and gene therapies. Leading candidates with positive efficacy and safety data include venglustat (Sanofi [Genzyme]) and ST-920 (Sangamo Therapeutics). Other potential therapies such as lucerastat (Idorsia Pharmaceuticals), 4D-310 (4D Molecular Therapeutics), and AMT-191 (uniQure) are also in development, though their outlook remains uncertain. For instance, 4D-310 faced regulatory holds due to safety issues, lucerastat did not achieve its primary trial endpoint, and AMT-191 remains in early-stage trials without efficacy data.
In February 2025, uniQure Biopharma completed patient enrollment in the first cohort of its Phase I/IIa AMT-191 trial, with positive safety evaluations from the Independent Data Monitoring Committee (IDMC) for the initial patients.
Beyond these emerging therapies, AL01211 from AceLink Therapeutics — an oral glucosylceramide synthase inhibitor — has shown promise in lowering globotriaosylceramide levels and stabilizing symptoms. Although AL01211 has received regulatory clearance to initiate Phase II trials in the U.S. and China, clinical trials in the broader 7MM region have yet to begin.
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.
In February 2025, Amicus Therapeutics presented oral sessions and posters highlighting its migalastat development programs at the 21st Annual WORLD Symposium.
In their January 2025 presentation, Idorsia Pharmaceuticals shared that they expect the Phase III Open-label Extension (OLE) study results in Q2 2025 and plan to discuss the regulatory pathway with the US FDA thereafter.
In January 2025, Sanofi announced that the regulatory submission for venglustat for Fabry disease is anticipated in 2026.
In October 2024, Amicus Therapeutics revealed it had entered into a licensing agreement with Teva Pharmaceuticals, settling patent litigation related to Teva’s Abbreviated New Drug Application (ANDA) for a generic version of GALAFOLD. Under the agreement, Teva will be permitted to launch its generic version in the U.S. starting January 2037.
In December 2024, CHIESI Farmaceutici and Protalix BioTherapeutics announced that the EMA had accepted the variation submission for pegunigalsidase alfa, proposing a less frequent dosing schedule of 2 mg/kg every four weeks for adult Fabry disease patients.
Earlier, in October 2024, Chiesi Global Rare Diseases reported the publication of Phase III BRIGHT study results, demonstrating the outcomes of ELFABRIO administered at 2 mg/kg every four weeks over 52 weeks in adult Fabry disease patients who had previously been treated with biweekly doses of agalsidase alfa or beta.
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 on the current and emerging therapies.
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.
Got queries? Click here to know more about the Fabry Disease Market Landscape.
Fabry Disease Overview
Fabry disease is a rare genetic disorder caused by a deficiency of the enzyme alpha-galactosidase A, which impairs the body’s ability to break down certain fatty substances. This enzyme deficiency results in the buildup of globotriaosylceramide (GL-3) within cells, leading to progressive damage to key organs such as the heart, kidneys, and nervous system. Symptoms typically appear during childhood and may include burning sensations in the hands and feet, the development of skin lesions known as angiokeratomas, digestive problems, and reduced ability to sweat.
Fabry Disease Market Outlook
Fabry disease is a rare X-linked lysosomal storage disorder caused by a mutation in the galactosidase-α gene, leading to impaired α-GAL A enzyme function. Newborn screening (NBS) has significantly improved the estimation of prevalence and facilitated earlier diagnosis, enabling timely treatment. The US holds the largest market share, followed by Europe and Japan.
Treatment options include enzyme replacement therapy (ERT), oral chaperone therapy, and supportive medications such as ACE inhibitors and analgesics. While ERT can help delay complications, a comprehensive approach that includes lifestyle changes and preventative treatments is crucial for effective disease management.
The Fabry disease treatment market is dominated by major pharmaceutical companies. In the US, three therapies are approved: ELFABRIO (Chiesi/Protalix), GALAFOLD (Amicus), and FABRAZYME (Sanofi-Genzyme). Europe leads with four approved treatments, while Japan has two, REPLAGAL and GALAFOLD, and also offers agalsidase beta biosimilars, which are not available in other major markets.
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)
Lucerastat: Idorsia Pharmaceuticals
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
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
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
Click here to read more about Fabry Disease Market Outlook 2034.
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.
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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