Fabry Disease Market Summary
The Fabry Disease Treatment Market was valued at approximately USD 1.7 billion in 2024, with the US accounting for ~52% (~USD 880 million) of the 7MM market. Fabry disease is a rare X-linked disorder caused by alpha-galactosidase mutations, leading to globotriaosylceramide accumulation and severe complications like kidney and heart failure. Early diagnosis via newborn screening is improving treatment outcomes. Current therapies include Enzyme Replacement Therapies (ERTs) such as FABRAZYME (Sanofi) and REPLAGAL (Takeda), chaperone therapy GALAFOLD (Amicus), and the next-generation ERT ELFABRIO (CHIESI/Protalix). The pipeline features promising substrate reduction and gene therapies, including Venglustat (Sanofi) and ST-920 (Sangamo), while others like AMT-191 and AL01211 are in early trials. Key players—Amicus, Sanofi, Takeda, CHIESI, Sangamo, and UniQure—are advancing therapies. Growing disease awareness, improved diagnostics, and innovative treatments are expected to drive significant market growth through 2034.
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, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. Fabry Disease leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, including the kidneys, heart, and nervous system. Fabry Disease symptoms can include chronic pain, angiokeratomas, heat intolerance, corneal opacities, and gastrointestinal issues. Fabry Disease diagnosis typically involves enzyme assay testing and genetic analysis to confirm mutations in the GLA gene. Fabry Disease primarily affects males, but female carriers can also exhibit Fabry Disease-related complications due to X-linked inheritance.
Fabry Disease progression can result in life-threatening complications such as Fabry Disease-induced renal failure, Fabry Disease-related cardiomyopathy, and Fabry Disease-associated stroke. Fabry Disease treatment includes enzyme replacement therapy (ERT) and pharmacological chaperones that help reduce Gb3 accumulation. Fabry Disease management also involves symptomatic care and regular monitoring of Fabry Disease biomarkers. Fabry Disease awareness is increasing due to advances in Fabry Disease research and clinical trials focused on gene therapy and novel treatment approaches. Early Fabry Disease screening can significantly improve patient outcomes. Fabry Disease specialists, including nephrologists, cardiologists, and geneticists, play a crucial role in personalized care. Comprehensive Fabry Disease education is essential for early detection, timely intervention, and better quality of life.
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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:
- Rising Disease Awareness & Early Diagnosis: Newborn screening programs and increased awareness lead to earlier detection and treatment initiation.
- Limited Treatment Options: Few approved therapies (ERTs and chaperones) create strong demand for novel and more effective treatments.
- Pipeline Innovation: Development of next-generation ERTs, substrate reduction therapies (SRTs), and gene therapies expands treatment choices.
- Regulatory Approvals & Expansions: Approvals of therapies like ELFABRIO, GALAFOLD, and clinical progress of candidates like AMT-191 and AL01211 support market growth.
- 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:
- High Treatment Costs: ERTs and emerging therapies are expensive, limiting patient access and creating reimbursement challenges.
- Complex Disease Management: Phenotypic variability, late-onset cases, and organ-specific complications complicate therapy decisions.
- Limited Curative Options: Current therapies manage symptoms but do not cure the disease; gene therapies are still early-stage.
- Clinical & Development Challenges: Some emerging therapies face setbacks due to safety concerns or trial failures (e.g., lucerastat, 4D-310).
- 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 had approximately 9,200 diagnosed prevalent cases of Fabry disease, representing ~52% of the total 7MM population. The EU4 and UK accounted for ~38%, and Japan for ~10%. Within Europe, Germany had the highest diagnosed cases (~2,170), while Spain had the lowest.
In the US, the classic Fabry phenotype affected about 3,300 patients, whereas the late-onset phenotype accounted for ~5,860 cases. Age-wise, the highest prevalence was in the 10–19 years group (~1,920 cases), followed by 20–29 years (~1,780), 30–39 years (~1,700), 40–49 years (~1,430), and below 10 years and 50+ (~1,180 each).
This highlights the predominance of late-onset cases and a concentration in younger populations, underscoring the importance of early diagnosis and 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): Oral therapy inhibiting glucosylceramide synthesis to reduce glycosphingolipid accumulation. Phase III data expected in H2 2025, with regulatory submission anticipated in 2026.
- Lucerastat (Idorsia): Small-molecule substrate reduction therapy (SRT) targeting glucosylceramide synthase. Phase III Open-Label Extension results expected Q2 2025; orphan drug designation in US/EU, under review in Japan.
- ST-920 / Isaralgagene civaparvovec (Sangamo): Liver-targeted AAV2/6 gene therapy delivering functional α-Gal A via single IV infusion. Accelerated approval pathway discussions with FDA; BLA expected H2 2025; EMA discussions ongoing.
- AMT-191 (UniQure Biopharma): AAV5 gene therapy delivering α-GAL A transgene for one-time treatment. Phase I/IIa progressing; second cohort enrollment planned Q1 2025; FDA granted orphan 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
About DelveInsight
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