Fabry Disease Market Size was USD 1.7 Billion in 2024, estimates DelveInsight

Fabry Disease Market

The United States dominated the Fabry Disease Treatment Market in 2024, contributing ~52% of the total 7MM market and generating approximately USD 880 million, the highest among all regions. The market is projected to grow significantly through 2034. Fabry disease is a rare X-linked disorder caused by alpha-galactosidase gene mutations, leading to progressive multi-organ damage. Improved newborn screening is aiding early diagnosis, while many adults still experience severe complications by mid-life.

Current treatment options include enzyme replacement therapies (ERTs) and chaperone therapy. Key marketed therapies—FABRAZYME, REPLAGAL, GALAFOLD, and ELFABRIO—offer diverse mechanisms to address enzyme deficiency. FABRAZYME remains the primary ERT in the US, while REPLAGAL maintains strong presence in Europe and Japan. ELFABRIO is the newest entrant, approved in the US and EU with ongoing efforts to secure monthly dosing approval.

The competitive landscape includes major players such as Amicus Therapeutics, Sanofi (Genzyme), Takeda, CHIESI–Protalix, Sangamo, and UniQure. The pipeline features promising therapies, including Venglustat, ST-920 gene therapy, and other candidates like lucerastat, 4D-310, and AMT-191—though some face efficacy or safety challenges. Additional emerging therapies, such as AceLink’s AL01211, show early potential.

Ongoing clinical advancements, gene therapy innovation, rising disease awareness, and better diagnostics are expected to drive future growth and improve outcomes for Fabry disease patients.

DelveInsight’s “Fabry Disease Market Insights, Epidemiology, and Market Forecast-2034” report delivers an in-depth understanding of 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. The Fabry Disease market report provides current treatment practices, emerging drugs, the market share of the individual therapies, and the current and forecasted Fabry Disease market size from 2020 to 2034, segmented by seven major markets. The Report also covers current Fabry Disease treatment practice/algorithm, market drivers, market barriers, and unmet medical needs to curate the best opportunities and assesses the underlying potential of the Fabry Disease market.

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Some facts of the Fabry Disease Market Report are:

• According to DelveInsight, Fabry Disease market size is expected to grow at a decent CAGR by 2034.
• As per DelveInsight analysis, the Fabry disease market size in the 7MM was approximately USD ~1700 million in 2024.
• As per the analysis conducted by DelveInsight, in 2022 the total diagnosed prevalent cases of Fabry disease was 15,290 in the 7MM and these cases are further projected to increase during the study period (2019-2034).
• Leading Fabry Disease companies working in the market are Protalix Biotherapeutics, Sanofi Genzyme, Sangamo Therapeutics, Freeline Therapeutics, 4D Molecular Therapeutics, Idorsia Pharmaceuticals, GREENOVATION BIOTECH GMBH, Shire, Takeda, Amicus Therapeutics, Protalix, uniQure, Codexis, MP6 Therapeutics, CellGenTech, and others.
• Key Fabry Disease Therapies expected to launch in the market are PRX-102 (Pegunigalsidase Alfa), Venglustat, ST-920, FLT190, 4D-310, Lucerastat, Moss-aGal, and others.
• In May 2025, All patients treated with Sangamo Therapeutics’ gene therapy candidate ST-920 (isaralgagene civaparvovec) for Fabry disease in a Phase 1/2 trial have now reached the FDA’s required one-year milestone to proceed toward accelerated approval. According to Sangamo’s recent update, a pivotal data readout is anticipated by the end of June. The FDA previously indicated that data from the ongoing Phase 1/2 STAAR trial (NCT04046224) could be sufficient for accelerated approval, potentially eliminating the need for further clinical trials and speeding the therapy’s market entry.
• In March 2025, Sangamo Therapeutics announced its agreement with the FDA on pursuing an accelerated approval pathway for ST-920 in Fabry disease, with a Biologics License Application (BLA) planned for submission in the latter half of 2025.
• In February 2025, Amicus Therapeutics presented oral sessions and posters highlighting its migalastat development programs at the 21st Annual WORLD Symposium.
• In 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 December 2024, CHIESI Farmaceutici and Protalix BioTherapeutics announced that the EMA had validated the variation submission for pegunigalsidase alfa to label a less frequent dosing regimen at a dose of 2 mg/kg body weight administered every 4 weeks in adult patients with Fabry disease.
• In September 2024, UniQure Biopharma mentioned that with the support of the designation for its Phase I/IIa clinical trial, the company is eager to rapidly generate clinical proof-of-concept data and provide initial results in 2025.
• On March 2024, Sanofi announced results of a Phase 4 study which evaluates the safety and tolerability of Fabrazyme at current approved dose with increases in the infusion rate and reduced infusion volume. This study aims to generate data to provide the guidance on how infusion rate can be safely increased and minimize the burden of the life-long treatment with Fabrazyme.
• On April 2024, 4D Molecular Therapeutics announced results of 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 caused by mutations in the GLA gene, leading to deficient activity of the α-galactosidase A enzyme. This results in the accumulation of globotriaosylceramide (Gb3) in various organs, particularly the kidneys, heart, and nervous system. Symptoms range from pain, heat intolerance, angiokeratomas, and gastrointestinal issues to serious complications such as progressive kidney failure, cardiomyopathy, arrhythmias, and stroke. The disease affects both males and females, though severity varies, with late-onset forms being more common and often diagnosed in adulthood. Early detection through newborn screening and genetic testing is improving diagnosis rates. Current treatments include enzyme replacement therapies (ERTs) such as FABRAZYME and REPLAGAL, and chaperone therapy like GALAFOLD, which aim to reduce substrate buildup and slow disease progression. Emerging therapies, including substrate reduction therapies and gene therapies, hold promise for more durable and targeted disease management.

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Fabry Disease Market Outlook

The Fabry Disease Therapeutics Market in the 7MM was valued at approximately USD 1,700 million in 2024, with the United States leading, accounting for ~52% (~USD 880 million) of the total market. Europe follows, led by Germany (~USD 210 million), while Spain has the lowest market share (~USD 82 million). Japan represents about USD 150 million (9%) of the 7MM market.

Fabry disease is a rare X-linked lysosomal storage disorder caused by α-GAL A enzyme deficiency, leading to progressive organ damage. Treatments include enzyme replacement therapies (ERTs)—FABRAZYME, REPLAGAL, and ELFABRIO—and the oral chaperone therapy GALAFOLD, effective in 35–50% of patients with specific GLA mutations. ERT remains central but faces limitations like frequent IV infusions and antidrug antibodies.

Emerging therapies, including venglustat, ST-920, 4D-310, and AMT-191, aim to improve enzyme delivery and offer gene therapy solutions. Rising prevalence, improved diagnostics, and pipeline innovations are driving market growth, while pediatric treatment gaps and long-term efficacy remain key challenges.

Fabry Disease Market Drivers:

1. Rising Disease Awareness & Early Diagnosis: Newborn screening programs and increased awareness lead to earlier detection and treatment initiation.
2. Limited Treatment Options: Few approved therapies (ERTs and chaperones) create strong demand for novel and more effective treatments.
3. Pipeline Innovation: Development of next-generation ERTs, substrate reduction therapies (SRTs), and gene therapies expands treatment choices.
4. Regulatory Approvals & Expansions: Approvals of therapies like ELFABRIO, GALAFOLD, and clinical progress of candidates like AMT-191 and AL01211 support market growth.
5. High Unmet Need for Better Outcomes: Progressive organ damage and complications drive demand for therapies that improve morbidity, mortality, and quality of life.

Fabry Disease Market Barriers:

1. High Treatment Costs: ERTs and emerging therapies are expensive, limiting patient access and creating reimbursement challenges.
2. Complex Disease Management: Phenotypic variability, late-onset cases, and organ-specific complications complicate therapy decisions.
3. Limited Curative Options: Current therapies manage symptoms but do not cure the disease; gene therapies are still early-stage.
4. Clinical & Development Challenges: Some emerging therapies face setbacks due to safety concerns or trial failures (e.g., lucerastat, 4D-310).
5. Small Patient Population: As a rare disease, limited patient numbers can slow commercial uptake and R&D investment.

Fabry Disease Epidemiology

In 2024, the United States recorded approximately 9,200 diagnosed prevalent cases of Fabry disease, accounting for nearly 52% of the total 7MM population. The EU4 and the UK together contributed around 38%, while Japan represented roughly 10% of the diagnosed population. Within Europe, Germany reported the highest number of diagnosed cases (~2,170), whereas Spain reported the lowest.

In the US, the burden was driven largely by the late-onset phenotype (~5,860 cases), compared with about 3,300 cases of the classic phenotype. By age distribution, prevalence peaked in the 10–19 year group (~1,920 cases), followed by 20–29 years (~1,780), 30–39 years (~1,700), 40–49 years (~1,430), and approximately 1,180 cases each in the and 50+ years groups.

These trends highlight the strong predominance of late-onset disease and the significant concentration of cases in younger age groups, emphasizing the critical need for early detection and timely intervention in Fabry disease management.

Fabry Disease Epidemiology Segmentation

• Total Fabry Disease Diagnosed Prevalent Cases
• Fabry Disease Gender-specific Diagnosed Prevalent Cases
• Fabry Disease Age-specific Diagnosed Prevalent Cases
• Fabry Disease Phenotype -specific Diagnosed Prevalent Cases

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As per DelveInsight’s assessments, in the 7MM Fabry Disease is more prevalent in males than in females but there are some differences at the regional level

Fabry Disease Competitive Landscape

• Venglustat (Sanofi/Genzyme):

Venglustat is an investigational oral substrate reduction therapy designed to inhibit glucosylceramide synthase, thereby reducing the accumulation of glycosphingolipids implicated in Fabry disease pathology. Its oral route offers a potential alternative to existing intravenous enzyme replacement therapies. The program is advancing through late-stage evaluation, with pivotal Phase III trial data expected in the second half of 2025. If results are positive, Sanofi is projected to pursue regulatory filings in 2026, positioning Venglustat as a key contender in the next wave of Fabry disease treatments.

• Lucerastat (Idorsia):

Lucerastat is a small-molecule SRT targeting glucosylceramide synthase, intended for broad applicability across Fabry disease phenotypes regardless of genotype. While its initial Phase III MODIFY trial did not meet its primary endpoint, the therapy continues in long-term assessment through an Open-Label Extension study, with results expected in Q2 2025. Lucerastat has secured orphan drug designation in both the US and EU, and its regulatory review is ongoing in Japan, keeping it relevant as a potential adjunct or alternative therapy pending supportive long-term data.

• ST-920 / Isaralgagene civaparvovec (Sangamo):

ST-920 is a next-generation liver-directed AAV2/6 gene therapy engineered to deliver a functional GLA gene, enabling continuous endogenous production of α-Gal A following a single intravenous infusion. Early and mid-stage clinical data have demonstrated durable enzyme activity and favorable safety. Sangamo is now engaging in accelerated approval pathway discussions with the FDA, with a Biologics License Application (BLA) targeted for the second half of 2025. Parallel interactions with the EMA suggest potential global positioning as one of the first gene therapies for Fabry disease.

• AMT-191 (UniQure Biopharma):

AMT-191 is an investigational AAV5-based gene therapy designed to introduce a functional α-Gal A transgene for one-time, long-term correction of the underlying enzymatic deficiency. The first-in-human Phase I/IIa study is progressing, with the second cohort’s enrollment expected to begin in Q1 2025 following encouraging initial safety evaluations. The program benefits from both orphan drug and fast-track designations from the FDA, reflecting its potential to address unmet needs and accelerate development toward a transformative, durable treatment option.

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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.

Learn more about the emerging Fabry Disease therapies & key companies @ Fabry Disease Treatment Market

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

About DelveInsight

DelveInsight is a leading Life Science market research and business consulting company recognized for its off-the-shelf syndicated market research reports and customized solutions to firms in the healthcare sector.

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