Fabry Disease Market to Grow Rapidly During the Study Period (2020–2034) | DelveInsight\n\nThe Fabry disease market is growing due to rising prevalence and better diagnostics. While ERTs and GALAFOLD dominate, emerging gene therapies and new treatments show promise. However, pediatric treatment gaps and long-term efficacy remain challenges. Innovation and improved access will be key to future expansion.\n\nDelveInsight’s Fabry Disease Market Insights report includes a comprehensive understanding of current treatment practices, emerging Fabry disease drugs, market share of individual therapies, and current and forecasted Fabry disease market size from 2020 to 2034, segmented into 7MM [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan].\n\nKey Takeaways from the Fabry Disease Market Report\nAccording to DelveInsight’s analysis, the total Fabry disease market size in the 7MM was estimated to be nearly USD 1.7 billion in 2024, and it is expected to grow positively by 2034. The United States accounted for the highest Fabry disease market size, approximately 52% of the total market size in 7MM in 2024, in comparison to the other major markets, i.e., EU4 countries (Germany, France, Italy, and Spain), and the United Kingdom, and Japan. Based on DelveInsight’s assessment in 2024, the 7MM had approximately 17K diagnosed prevalent cases of Fabry disease. Prominent companies, including Idorsia Pharmaceuticals, Sanofi, Sangamo Therapeutics, UniQure Biopharma, 4D Molecular Therapeutics, and others, are actively working on innovative Fabry disease drugs. These novel Fabry disease therapies are anticipated to enter the Fabry disease market in the forecast period and are expected to change the market. Some of the key Fabry disease treatments include GALAFOLD (migalastat), ELFABRIO (PRX-102/pegunigalsidase alfa-Iwxj), FABRAZYME (agalsidase beta), REPLAGAL (agalsidase alfa), Lucerastat, Venglustat (GZ402671), Isaralgagene civaparvovec (ST-920), AMT-191, 4D-310, and others. In March 2025, Sangamo Therapeutics mentioned the alignment with the FDA on an accelerated approval pathway for ST-920 in Fabry disease, with a BLA submission expected in the second half of 2025. In February 2025, Sangamo Therapeutics announced updated data from the Phase I/II STAAR study evaluating isaralgagene civaparvovec for the treatment of Fabry disease at the 21st Annual WORLD Symposium. In February 2025, Amicus Therapeutics announced oral presentations and posters related to migalastat development programs at the 21st Annual WORLD Symposium 2025. In the January 2025 annual presentation, Sanofi mentioned that the expected date of regulatory submission for venglustat for Fabry disease is in 2026. In the January 2025 presentation, Idorsia Pharmaceuticals mentioned that the company is anticipating the Phase III Open-label Extension (OLE) study results in Q2 2025 and planning the discussion for the regulatory pathway to then be discussed with the US FDA.\n\nFabry Disease Overview\nFabry disease is a rare, inherited lysosomal storage disorder caused by mutations in the GLA gene, which leads to a deficiency or malfunction of the enzyme alpha-galactosidase A. This enzyme is essential for breaking down a fatty substance called globotriaosylceramide (Gb3 or GL-3). When the enzyme is deficient, Gb3 accumulates in the cells of blood vessels, nerves, and organs, leading to progressive damage. Fabry disease symptoms often begin in childhood and may include burning pain in the hands and feet, clusters of small, dark red skin spots, reduced ability to sweat, gastrointestinal issues, and eye abnormalities.\n\nOver time, the disease can cause serious complications such as kidney failure, heart disease, and strokes. Diagnosis involves a combination of enzyme activity assays, genetic testing to identify GLA mutations, and tissue biopsies or imaging to assess organ involvement. Early Fabry disease diagnosis and treatment, often with enzyme replacement therapy (ERT) or chaperone therapy, are critical to managing the disease and slowing its progression.\n\nFabry Disease Epidemiology Segmentation\nThe Fabry disease epidemiology section provides insights into the historical and current Fabry disease patient pool and forecasted trends for the 7MM. It helps recognize the causes of current and forecasted patient trends by exploring numerous studies and views of key opinion leaders.\n\nThe Fabry disease market report proffers epidemiological analysis for the study period 2020–2034 in the 7MM segmented into:\nTotal Diagnosed Prevalence of Fabry Disease\nGender-specific Diagnosed Prevalence of Fabry Disease\nAge-specific Diagnosed Prevalence of Fabry Disease\nPhenotype -specific Diagnosed Prevalence of Fabry Disease\n\nFabry Disease Treatment Market\nFabry disease treatment involves enzyme replacement therapy (ERT), oral chaperone therapy, and supportive medications such as ACE inhibitors and pain relievers. While ERT helps delay disease progression, comprehensive care, including lifestyle adjustments and preventive strategies, is critical for optimal management.\n\nThe treatment landscape features several major pharmaceutical companies. In the U.S., three therapies have received approval: ELFABRIO (Chiesi/Protalix), GALAFOLD (Amicus), and FABRAZYME (Sanofi-Genzyme). Europe currently leads with four approved options, while Japan offers two, REPLAGAL and GALAFOLD, and stands out for introducing agalsidase beta biosimilars, unlike other regions.\n\nERT remains a cornerstone of therapy, using agalsidase alfa and agalsidase beta to replicate α-Gal A activity and slow disease advancement. FABRAZYME (agalsidase beta), from Sanofi-Genzyme, is administered via IV infusion every two weeks. Since its 2003 FDA approval, it has become available in over 70 countries. The expiration of its patent in Japan has led to biosimilars like agalsidase beta BS (JR-051) from JCR Pharmaceuticals. REPLAGAL (agalsidase alfa), developed by Shire (now Takeda), gained approval in Europe in 2001 and Japan in 2007 but was never approved in the U.S. After facing regulatory issues, Shire withdrew its FDA application in 2012, shifting U.S. patients to alternative therapies. Nonetheless, REPLAGAL remains available in more than 35 countries.\n\nELFABRIO (pegunigalsidase alfa), a pegylated ERT developed by Chiesi/Protalix, is FDA-approved for Fabry disease. While ERT improves clinical outcomes, challenges such as frequent infusions, difficulties with venous access, risk of infections, and complications in children persist. Additionally, the development of antidrug antibodies (ADAs) can hinder treatment effectiveness. To overcome these barriers, chaperone therapy has emerged as an alternative approach.\n\nChaperone therapy stabilizes misfolded enzymes, enhancing their proper function and cellular trafficking. It has applications in various lysosomal storage disorders, including Gaucher, Pompe, and Fabry diseases. GALAFOLD (migalastat), approved by the FDA in 2018, is the first oral chaperone therapy for Fabry disease. It targets specific GLA gene mutations, offering benefits to 35–50% of patients by stabilizing α-Gal A and promoting the breakdown of GL-3.\n\nFabry Disease Emerging Drugs and Companies\nThe Fabry disease pipeline possesses some drugs in the development stage to be approved in the near future. The emerging landscape holds a diverse range of therapeutic alternatives for treatment, including venglustat (Sanofi (Genzyme)), lucerastat (Idorsia Pharmaceuticals), ST-920 (Sangamo Therapeutics), 4D-310 (4D Molecular Therapeutics), AMT-191 (UniQure) and others, and others in different lines of treatment. The launch of these Fabry disease medications is expected to create a positive impact on the market.\n\nST-920 is a liver-targeting recombinant AAV 2/6 vector that delivers the human α-galactosidase A cDNA via a one-time intravenous infusion. Its goal is to introduce a functional copy of the α-galactosidase A gene into liver cells, enabling them to produce the active enzyme. ST-920 is being developed as a potentially long-lasting, single-dose therapy for Fabry disease to improve patient outcomes.\n\nIn a March 2025 update, Sangamo Therapeutics reported that it had reached an agreement with the FDA on an accelerated approval pathway for ST-920 in Fabry disease, with a Biologics License Application (BLA) submission planned for the second half of 2025.\n\nVenglustat is an investigational oral therapy designed to slow disease progression by blocking the buildup of abnormal glycosphingolipids. It works by inhibiting the conversion of ceramide into glucosylceramide, thereby reducing the substrate needed for creating complex glycosphingolipids.\n\nDuring its January 2025 annual presentation, Sanofi shared that it expects to submit a regulatory application for venglustat in Fabry disease in 2026, and that Phase III trial results are anticipated in the second half of 2025.\n\nThe anticipated launch of these emerging Fabry disease drugs are poised to transform the Fabry disease market landscape in the coming years. As these cutting-edge therapies continue to mature and gain regulatory approval, they are expected to reshape the Fabry disease market landscape, offering new standards of care and unlocking opportunities for medical innovation and economic growth.\n\nFabry Disease Market Dynamics\nThe Fabry disease market dynamics are anticipated to change in the coming years. ERT such as FABRAZYME and REPLAGAL provides patients with a synthetic version of the missing enzyme to manage symptoms and reduce organ damage, and with improved genetic testing and newborn screening programs enabling earlier diagnosis particularly in at-risk populations patients can begin ERT sooner, enhancing quality of life and life expectancy; meanwhile, ongoing research into advanced treatments like gene therapy, which aims to provide a permanent cure by introducing a functional α-Gal A gene, as well as small molecule therapies and substrate reduction therapies (SRT) like venglustat and lucerastat, offers promising alternatives and adjunct options that could further improve patient outcomes globally.\n\nFurthermore, many potential therapies are being investigated for the treatment of Fabry disease, and it is safe to predict that the treatment space will significantly impact the Fabry disease market during the forecast period. Moreover, the anticipated introduction of emerging therapies with improved efficacy and a further improvement in the diagnosis rate is expected to drive the growth of the Fabry disease market in the 7MM.\n\nHowever, several factors may impede the growth of the Fabry disease market. Fabry disease presents with highly variable symptoms across individuals, often leading to misdiagnosis or delayed diagnosis particularly in milder cases complicating the establishment of standardized care protocols; this variability, combined with genetic diversity, makes personalized treatment challenging, as therapies like GALAFOLD are only effective for patients with amenable mutations, limiting their applicability, while the high cost of treatments such as ERT, GALAFOLD, and potential gene therapies further restricts access, especially in regions with limited healthcare resources, ultimately resulting in poorer patient outcomes.\n\nMoreover, Fabry disease treatment poses a significant economic burden and disrupts patients’ overall well-being and QOL. Furthermore, the Fabry disease market growth may be offset by failures and discontinuation of emerging therapies, unaffordable pricing, market access and reimbursement issues, and a shortage of healthcare specialists. In addition, the undiagnosed, unreported cases and the unawareness about the disease may also impact the Fabry disease market growth.

Fabry Disease Market to Grow Rapidly During the Study Period (2020–2034) | DelveInsight

The Fabry disease market is projected to grow significantly from 2020 to 2034, driven by rising prevalence, improved diagnostics, and emerging therapies. Key players like Sanofi, Sangamo Therapeutics, and Idorsia Pharmaceuticals are advancing treatments, including gene therapies and oral chaperone drugs. Challenges include pediatric treatment gaps, high costs, and limited access in low-resource regions. The market is segmented into 7MM (United States, EU4, UK, Japan) with the U.S. accounting for 52% of the 2024 market size.