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Fabry Disease Market Research Report Information Infromation By Type (Type 1 and Type 2), By Diagnosis & Treatment (Diagnosis (Blood Test, Urine Test, Thyroid Test, Lung Function Test, Imaging (Electrocardiogram (EKG), Echocardiogram, Brain MRI, CT Scan, and Others), Hearing And Eye Examination, and Others), Treatment (Enzyme Replacement Therapy, Gene Therapy, Pharmaceutical Diagnosis & Treatmentulations Containing Agalsidase Alfa, Analgesics, Anticonvulsants, Nonsteroidal Anti-Inflammatory Drugs (NSAIDs), and Others), By End Users (Hospita


ID: MRFR/HC/5599-HCR | 90 Pages | Author: Kinjoll Dey| April 2024

Global Fabry Disease Market Overview


Fabry Disease Market Size was valued at USD 2.1 billion in 2022 and is projected to grow from USD 2.26 Billion in 2023 to USD 4.12 billion by 2032, exhibiting a compound annual growth rate (CAGR) of 7.8% during the forecast period (2023 - 2032). The growing prevalence of Fabry diseases and the rising adoption of novel therapies are a few market drivers boosting the market growth.Fabry Disease MarketSource: Secondary Research, Primary Research, MRFR Database and Analyst Review


Fabry Disease Market Trends



  • Growing prevelance of Fabry Disease to propel market growth


Fabry disease, an inherited disorder, causes A type of fat called globotriaosylceramide to accumulate in the body's cells. Fabry disease is characterized by episodes of pain, especially in the hands and feet, clusters of tiny, dark-red skin spots called angiokeratomas, a decreased ability to sweat, cloudiness or streaks in the front of the eye, issues with the gastrointestinal system, ringing in the ears, and hearing loss. According to estimates published by Fabry Institute, an educational platform developed and funded by Takeda Pharmaceutical Company Limited, 1 in 20,000 females and 1 in 40,000 males are thought to be affected by Fabry disease. Furthermore, a study on lysosomal storage disorders conducted in Australia estimated that there were 1 in 117,000 live births with Fabry disease. Thus, this factor is driving the market CAGR.


Growing R&D activities for a better understanding of the genomics of the disease and its impacts is also one of the key market drivers. Various research institutes and companies are investing in research and development activities on Fabry disease. According to a research study published on Fabry disease, it was estimated that A total of 199 different organizations contributed funding to the study of FD. A total of 1141 research grants (g) on FD were awarded, with private funding making up 48.47% and public funding making up 51.53%. Government funding contributed the most FD grants (g = 485), followed by corporate sponsors (g = 458), educational institutions (g = 76), medical facilities (g = 8), foundations (g = 64), charitable organizations (g = 23), and societies (g = 12). Governmental organizations from countries like Japan, Germany, South Korea, Canada, Brazil, China, the EU, Italy, and Spain were also significant financial backers of FD research. Protalix Biotherapeutics, an Israeli company developing Pegunigalsidase alfa as a potential advantageous replacement for ERT, is a more recent participant in the field of FD-related research.


Figure 1: Fabry Disease Clinical SignsFabry Disease Clinical SignsSource: Secondary Research, Primary Research, MRFR Database and Analyst Review


Increasing R&D activities have also led to a growing pipeline for Fabry disease. Companies are conducting various clinical trials to test their product effectiveness. For instance, Protalix conducted a Phase III study, an open-label switchover study will evaluate the safety, efficacy, and pharmacokinetics of pegunigalsidase alf (PRX-102) 2 mg/kg given every 4 weeks for 52 weeks in Fabry patients who had previously received ERT: agalsidase alf or agalsidase beta for at least 3 years. Such treatments that will be launched in the coming years will accelerate Fabry Disease market revenue globally.


Fabry Disease Market Segment Insights


Fabry Disease Type Insights


The Fabry Disease Market segmentation, based on type, includes type 1 and type 2. The type 1 segment held the majority share in 2022 in the Fabry Disease Market data. The higher prevalence of Type 2 Fabry disease and growing R&D activities fuel the market's growth. According to the study published by Chien in 2012, the type 2 later-onset phenotype is 3–10 times more common than the type 1 phenotype and can affect as many as 1–4 percent of males in some populations. Moreover, an estimated one in 40,000 males is thought to have type 1 classic Fabry disease


Fabry Disease Diagnosis & Treatment Insights


The Fabry Disease Market segmentation, based on diagnosis & treatment, includes diagnosis and treatment. The diagnosis segment is further fragmented into blood tests, urine tests, thyroid tests, lung function tests, imaging, hearing and eye examination, and others. The treatment segment is categorized into enzyme replacement therapy, gene therapy, pharmaceutical diagnosis & treatmentulations containing agalsidase alfa, analgesics, anticonvulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and others. The treatment segment dominated the market growth in 2022 and is projected to be the faster-growing segment during the forecast period, 2022-2030. Some factors attributing to the growth include increased adoption of novel therapies and favorable reimbursement policies. Moreover, initiatives taken by the companies in the market for conducting R&D activities are also aiding the growth of the fabry disease market. The enzyme replacement therapy segment held the largest share based on the treatment type. The increased demand for enzyme replacement therapies for the treatment of Fabry disease is a key factor fueling the market's expansion. This is due to the fact that treatments using enzyme replacement, like Fabrazyme, target the Fabry disease's root cause.


August 2021 Amicus Therapeutics, a company that specializes in finding, developing, and delivering novel treatments for rare diseases, announced today that the European Commission had approved the use of Galafold (migalastat) in adolescents with Fabry disease who are 12 to 16 years old and weigh less than 45 kg and have an amenable mutation. Galafold is already approved in many countries worldwide, including the U.S., EU, and Japan, for adults with an amenable variant or mutation.


Fabry Disease End Users Insights


The Fabry Disease Market data, based on end users, include hospitals & clinics, diagnostic centers, research & academic institutes, and others. The hospitals & clinics segment dominated the Fabry Disease market revenue in 2022 and is projected to be the faster-growing segment during the forecast period, 2022-2030. Hospitals & clinics are nowadays shifting towards adopting an advanced infrastructure by adopting technologically advanced equipments. Moreover, rising government support for the development of the hospital infrastructure and the availability of all types of skilled professionals that can provide accurate knowledge related to the disease is anticipated to be a key factor boosting the growth of this segment.


Figure 2: Fabry Disease Market, by End User, 2022 & 2030 (USD Billion)Fabry Disease Market, by End User, 2022 & 2030Source: Secondary Research, Primary Research, MRFR Database and Analyst Review


Fabry Disease Regional Insights


By region, the study provides market insights into North America, Europe, Asia-Pacific, and the Rest of the World. North America Fabry Disease market accounted for USD 1.8 billion in 2022 with a share of around 45.80% and is expected to exhibit a significant CAGR growth during the study period. Drug companies are increasing their R&D expenditures in rare diseases due to government healthcare policies that are more favorable and health insurance programs that cover expensive medications like Fabrazyme. Additionally, the market for Fabry disease in this region is expanding due to the accessibility of cutting-edge therapeutics used in its treatment..


Further, the major countries studied in the market report are: The U.S., Canada, Germany, France, the UK, Italy, Spain, China, Japan, India, Australia, South Korea, and Brazil.


Figure 3: FABRY DISEASE MARKET SHARE BY REGION 2022 (%)FABRY DISEASE MARKET SHARE BY REGION 2022Source: Secondary Research, Primary Research, MRFR Database and Analyst Review


Europe Fabry Disease market accounts for the second-largest market share. A growing patient population and increased use of cutting-edge treatments like chaperone therapy have fueled the market's growth. Moreover, the UK Fabry Disease market held the largest market share, and the Germany Fabry Disease market was the fastest-growing market in the region.


Asia Pacific Fabry Disease Market is expected to grow at the fastest CAGR from 2022 to 2030. There are several opportunities for companies in this region due to rising healthcare costs and expanding infrastructure. Moreover, growing government support is also one of the key factors anticipated to aid the market growth during the forecast period. Further, the China Fabry Disease market held the largest market share, and the India Fabry Disease market was the fastest-growing market in the region.


Fabry Disease Key Market Players & Competitive Insights


Major market players are investing & funding to support the R&D activities such that they can launch new medicines in the market. Companies are also taking initiatives to grow their market share, with key market developments such as new product launches, increased investments, growing product pipelines, and collaboration with other companies. Players in the Fabry Disease industry must offer more effective solutions and help in the treatment.


One of the business strategies adopted by companies in the global Fabry Disease industry is collaborating with research institutes to conduct studies to understand the genetics of Fabry disease. The Fabry Disease markets major players such as Amgen Inc., Amicus Therapeutics Inc., Bristol-Myers Squibb Company, GlaxoSmithKline, iBio,  Neuraltus Pharmaceuticals, Novartis AG, Pfizer Inc., AVROBIO, Idorsia Pharmaceuticals Ltd, Protalix, Sanofi, Shire, Takeda Pharmaceutical Company Limited, and Teva Pharmaceutical Industries Ltd are heavily focused on conducting clinical trials to test their treatment solutions.


Amicus Therapeutics Inc is a biotechnology business that leads the way in cutting-edge therapies for a variety of rare diseases. The business is utilising our cutting-edge technological platforms to create treatments for human genetic illnesses. In August 2018, Amicus Therapeutic’s “Galafold”, the first oral therapy to treat Fabry disease, a rare, occasionally fatal condition in which fat accumulation damages several organs, received approval from U.S. health regulators.


Takeda is a Japanese-based, multinational biopharmaceutical company with a strong focus on research and development ("R&D"). They share our commitment to patients, our people, and the environment and are dedicated to discovering, developing, and delivering treatments that can change people's lives. Takeda concentrates its R&D efforts on four therapeutic areas: gastroenterology ("GI"), rare genetics and hematology, oncology, and neuroscience. Takeda Pharmaceutical Company Limited. In 2020, China approved using REPLAGAL (agalsidase alfa), an enzyme replacement therapy for the treatment.


Key Companies in the Fabry Disease market includes



  • Amgen Inc.

  • Amicus Therapeutics Inc.

  • Bristol-Myers Squibb Company

  • GlaxoSmithKline

  • iBio

  • Neuraltus Pharmaceuticals

  • Novartis AG

  • Pfizer Inc.

  • AVROBIO

  • Idorsia Pharmaceuticals Ltd

  • Protalix

  • Sanofi

  • Shire

  • Takeda Pharmaceutical Company Limited

  • Teva Pharmaceutical Industries Ltd, among others


Fabry Disease Industry Developments


February 2022: Takeda has acquired from Sumitomo Dainippon Pharma the rights to manufacture, market, and sell REPLAGAL in Japan.


September 2022: AceLink Therapeutics' AL01211 was designated by the US Food and Drug Administration (FDA) as an orphan drug to treat Fabry disease.


Fabry Disease Market Segmentation


Fabry Disease Type Outlook (USD Billion, 2018-2030)



  • Type 1

  • Type 2


Fabry Disease Diagnosis & Treatment Outlook (USD Billion, 2018-2030)




  • Diagnosis

    • Blood Test

    • Urine Test

    • Thyroid Test

    • Lung Function Test


    • Imaging

      • Electrocardiogram (EKG)

      • Echocardiogram

      • Brain MRI

      • CT Scan

      • Others



    • Hearing And Eye Examination

    • Others




  • Treatment

    • Enzyme Replacement Therapy

    • Gene Therapy

    • Pharmaceutical Diagnosis & Treatmentulations Containing Agalsidase Alfa

    • Analgesics

    • Anticonvulsants

    • Nonsteroidal Anti-Inflammatory Drugs (NSAIDs)






    • Others



Fabry Disease End Users Outlook (USD Billion, 2018-2030)



  • Hospitals & Clinics

  • Diagnostic Centers

  • Research & Academic Institutes

  • Others


Fabry Disease Regional Outlook (USD Billion, 2018-2030)




  • North America



    • US

    • Canada




  • Europe



    • Germany

    • France

    • UK

    • Italy

    • Spain

    • Rest of Europe




  • Asia-Pacific



    • China

    • Japan

    • India

    • Australia

    • South Korea

    • Australia

    • Rest of Asia-Pacific




  • Rest of the World




    • Middle East




    • Africa




    • Latin America





Report Attribute/Metric Details
Market Size 2022 USD 2.1 billion
Market Size 2023 USD 2.26 billion
Market Size 2032 USD 4.12 billion
Compound Annual Growth Rate (CAGR)  7.8% (2023-2032)
Base Year 2022
Market Forecast Period 2023-2032
Historical Data 2018 - 2021
Market Forecast Units Value (USD Billion)
Report Coverage Revenue Forecast, Market Competitive Landscape, Growth Factors, and Trends
Segments Covered Type, Diagnosis & Treatment, End Users and Region
Geographies Covered North America, Europe, Asia Pacific, and Rest of the World
Countries Covered The U.S, Canada, Germany, France, UK, Italy, Spain, China, Japan, India, Australia, South Korea, and Brazil
Key Companies Profiled Amgen Inc., Amicus Therapeutics Inc., Bristol-Myers Squibb Company, GlaxoSmithKline, iBio,  Neuraltus Pharmaceuticals, Novartis AG, Pfizer Inc., AVROBIO, Idorsia Pharmaceuticals Ltd, Protalix, Sanofi, Shire, Takeda Pharmaceutical Company Limited, and Teva Pharmaceutical Industries Ltd.
Key Market Opportunities Growing R&D activities
Key Market Dynamics Strong product pipeline Growing incidences of fabry diseases


Frequently Asked Questions (FAQ) :

The Fabry Disease Market size was valued at USD 2.1 Billion in 2022.

The global market is projected to grow at a CAGR of  7.8% during the forecast period, 2023-2032.

North America had the largest share of the global market

The key players in the market are Amgen Inc., Amicus Therapeutics Inc., Bristol-Myers Squibb Company, GlaxoSmithKline, iBio,  Neuraltus Pharmaceuticals, Novartis AG, Pfizer Inc., AVROBIO, Idorsia Pharmaceuticals Ltd, Protalix, Sanofi, Shire, Takeda Pharmaceutical Company Limited, and Teva Pharmaceutical Industries Ltd.

The diagnosis category dominated the market in 2022.

The hospitals & clinics had the largest share of the global market.

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