DelveInsight’s “Fabry Disease Market Insights, Epidemiology, and Market Forecast-2036” report 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, EU4 (Germany, Spain, Italy, France) and the United Kingdom, and Japan.
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Key Takeaways from the Fabry Disease Market Report
- In January 2026, Idorsia Pharmaceuticals presented Phase III MODIFY trial data showing a possible signal in patients with reduced baseline kidney function; however, no statistically significant renal benefit was observed with lucerastat in adults with Fabry disease. The regulatory pathway is expected to be discussed with the US FDA.
- In Jan 2026, the FDA approved an expanded label for Cerezyme (imiglucerase) to include non-central nervous system manifestations of Type 3 Gaucher disease. While it does not treat the neurological symptoms, this expansion—based on real-world evidence from the International Collaborative Gaucher Group—allows for a broader global standard of care for the systemic symptoms of GD3.
- In December 2025, BioMarin Pharmaceutical announced a definitive agreement to acquire Amicus Therapeutics for approximately $4.8 billion. This landmark deal consolidates BioMarin’s leadership in rare diseases, adding Galafold (for Fabry disease) and the Pombiliti + Opfolda combination (for Pompe disease) to its portfolio. The acquisition is expected to accelerate BioMarin’s revenue growth by leveraging its global commercial footprint across 80 countries.
- In November 2025, Sangamo Therapeutics announced that the US FDA accepted its request for a rolling BLA review for ST-920, and in December 2025, the company initiated the rolling submission seeking accelerated approval for the treatment of adults with Fabry disease.
- In November 2025, Chiesi Global Rare Diseases and Protalix BioTherapeutics requested a re-examination from the EMA regarding a negative opinion on a new dosing regimen for Elfabrio. The companies are seeking approval for a 2 mg/kg every four weeks option, providing more flexibility for Fabry disease patients who currently rely on bi-weekly infusions.
- According to DelveInsight’s assessment, in 2025, the 7MM had approximately 18,000 diagnosed prevalent cases of Fabry disease. Increased newborn screening and genetic testing are expected to expand this pool, reaching around 58K by 2036, especially in late-onset variants that often remain undiagnosed.
- In the 7MM, the US accounted for the highest number of diagnosed prevalent cases of Fabry disease, with nearly 9,400 cases in 2025.
- In 2025, EU4 and the UK accounted for nearly 6,900 diagnosed prevalent cases of Fabry disease.
- In 2025, there were ~700 and ~1,000 diagnosed prevalent cases among male and females respectively, in Japan.
- In the US, the 10–19 years of age group had the highest number of cases, while the 40–49 years of age group accounted for the least number of cases.
- Fabry disease affects 1 in 1,000 to 40,000 people globally, with late-onset cases being more common. Adults with Fabry disease often experience progressive organ damage, leading to significant morbidity and mortality, typically by the fourth or fifth decade of life.
- The leading Fabry Disease Companies such as Amicus Therapeutics, CHIESI Farmaceutici and Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceuticals, Sangamo Therapeutics, UniQure Biopharma, Exegenesis Bio, Idorsia Pharmaceuticals, 4D Molecular Therapeutics, AceLink Therapeutics, and others.
- Promising Fabry Disease Therapies such as Venglustat, Isaralgagene civaparvovec (ST-920), Lucerastat, AMT-191, 4D-310, AL01211, EXG110, and others.
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Fabry Disease Epidemiology Segmentation in the 7MM
- 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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Marketed Fabry Disease Therapies
- FABRAZYME: Sanofi (Genzyme) FABRAZYME is FDA-approved for patients aged ≥2 years, making it the primary enzyme replacement therapy (ERT) for Fabry disease in the US. Developed by Sanofi-Genzyme, it is an ERT given via IV infusion every two weeks. Approved by the FDA in 2003, it is available in over 70 countries and remains a cornerstone of Fabry disease treatment as the first FDA-approved ERT.
- REPLAGAL: Takeda Pharmaceuticals REPLAGAL (agalsidase alfa), developed by Shire (now Takeda), was approved in Europe (2001) and Japan (2007) for patients aged 7+ years but is unavailable in the US. REPLAGAL has retained a strong foothold in the European and Japanese markets for over two decades, largely due to its well-documented efficacy and the absence of biosimilar competition.
- GALAFOLD (migalastat): Amicus Therapeutics GALAFOLD is an oral pharmacological chaperone of α-Gal A for the treatment of Fabry disease in adults who have amenable galactosidase-α gene variants. The orally administered therapeutic candidate acts as a pharmacological chaperone designed to selectively and reversibly bind with high affinity to the active sites of certain mutant forms of the lysosomal enzyme α-Gal A. GALAFOLD is the first FDA-approved oral chaperone therapy for Fabry disease (2018), effective for specific GLA mutations, benefiting 35–50% of patients.
- ELFABRIO (pegunigalsidase alfa): CHIESI Farmaceutici and Protalix Biotherapeutics ELFABRIO is a pegylated ERT for Fabry disease, approved for adult Fabry patients in the EU and US. It currently follows a bi-weekly regimen, with efforts underway for monthly dosing approval (EMA validation). PRX-102 is a plant cell culture-expressed and chemically modified stabilized version of the recombinant α Gal A enzyme with unique pharmacokinetic parameters.
Emerging Fabry Disease Therapies
- Isaralgagene civaparvovec (ST-920): Sangamo Therapeutics ST-920 is a liver-tropic rAAV 2/6 vector carrying the cDNA for human alpha-galactosidase-A that is delivered through a single dose IV infusion. The drug aims to deliver a working copy of the galactosidase-α gene to the liver so that liver cells can start producing functional alpha-galactosidase-A. ST-920 has the potential as a one-time, durable treatment option for Fabry disease. ST-920 is the potential gene therapy in the development of Fabry disease, with its expected approval by Q2 2026 in the US.
- Venglustat: Sanofi (Genzyme) Venglustat is a novel, oral investigational therapy that has the potential to slow the progression of certain diseases by inhibiting abnormal glycosphingolipids accumulation. The drug inhibits the enzymatic conversion of ceramide to glucosylceramide, reducing available substrate for the synthesis of more complex glycosphingolipids. It is getting evaluated in Phase III for Fabry disease, with expected approval by 2027 in the US.
To know more about Fabry Disease treatment guidelines, visit @ Fabry Disease Treatment Market Landscape
Fabry Disease Therapies and Companies
- Venglustat: Sanofi (Genzyme)
- Lucerastat: Idorsia Pharmaceuticals
- Isaralgagene civaparvovec (ST-920): Sangamo Therapeutics
- AMT-191: UniQure Biopharma
- 4D-310: 4D Molecular Therapeutics
- AL01211: AceLink Therapeutics
- EXG110: Exegenesis Bio
Fabry Disease Market Dynamics The Fabry disease market dynamics have undergone significant changes over the years. The aging population and improved diagnostic techniques, particularly newborn screening, have expanded the patient pool. Advancements in medical research and development have brought new treatments including enzyme replacement therapies, chaperone therapy, and promising gene therapies to the market. The transition toward one-time therapies (gene therapy) has the potential to disrupt the recurring ERT model. However, reimbursement challenges and durability data will determine long-term market penetration. Growing awareness and improved diagnostic techniques are crucial for early detection and better patient outcomes.
Learn more about the FDA-approved drugs for Fabry Disease @ Drugs for Fabry Disease Treatment
Scope of the Fabry Disease Market Report
- Coverage- 7MM
- Study Period- 2022-2036
- Forecast Period- 2026-2036
- Fabry Disease Companies- Amicus Therapeutics, CHIESI Farmaceutici and Protalix Biotherapeutics, Sanofi (Genzyme), Takeda Pharmaceuticals, Sangamo Therapeutics, UniQure Biopharma, Exegenesis Bio, Idorsia Pharmaceuticals, 4D Molecular Therapeutics, AceLink Therapeutics, and others
- Fabry Disease Therapies- Venglustat, Isaralgagene civaparvovec (ST-920), Lucerastat, AMT-191, 4D-310, AL01211, EXG110, and others
- Fabry Disease Unmet Needs, KOL’s views, Analyst’s views, Fabry Disease Market Access and Reimbursement
Table of Content
- Key Insights
- Report Introduction
- Executive Summary
- Key Events
- Epidemiology and Market Forecast Methodology of Fabry Disease
- Fabry Disease Market Overview at a Glance
- Disease Background and Overview
- Epidemiology and Patient Population of Fabry Disease in the 7MM
- Patient Journey of Fabry Disease
- Marketed Therapies of Fabry Disease
- Emerging Therapies of Fabry Disease
- Fabry Disease: 7MM Analysis
- Unmet Needs of Fabry Disease
- SWOT Analysis of Fabry Disease
- KOL Views of Fabry Disease
- Market Access and Reimbursement
- Appendix
- DelveInsight Capabilities
- Disclaimer
- About DelveInsight
About DelveInsight
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It also offers Healthcare Consulting Services, which benefits in market analysis to accelerate the business growth and overcome challenges with a practical approach.
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