In the realm of rare diseases, Fabry Disease stands out as a significant challenge for patients and healthcare providers alike. This genetic disorder, characterized by the deficiency of an enzyme called alpha-galactosidase A (α-GAL A), leads to the accumulation of glycolipids in various organs, causing progressive and potentially life-threatening complications.

Fabry Disease Market Share was valued at USD 2.1 billion in 2022 and is projected to grow from USD 2.26 Billion in 2023 to USD 3.55 billion by 2030, exhibiting a compound annual growth rate (CAGR) of 7.8% during the forecast period (2023 - 2030). Technological advancements, strong pipeline, advancements in healthcare facilities, and favorable funding policies are expected to drive the market growth over the forecast period. Owing to the increasing awareness about Fabry disease, new and existing market players are coming up with better treatment approaches. For instance, in 2018, 2018, Amicus Therapeutics launched Galafold capsules 123mg for the treatment of patients aged 16 years and older with a confirmed diagnosis of Fabry disease and who have an amenable mutation.

However, diverse range of symptoms, and related complications can restrain the market growth over the assessment period.

Regional Analysis:

Geographically, the Americas is expected to dominate the global market owing to the increasing technological advancements and rising research and development activities. Gastrointestinal manifestations such as abdominal pain, diarrhea and nausea are significant burden in a patient with Fabry disease. So, for the advanced treatment of these patients SmartPill testing procedure is developed to gain additional understanding of Fabry disease manifestation via motility abnormalities in order to improve symptom targeted therapy. This device is currently under clinical trial and the sponsor of this study is Massachusetts General Hospital.

Europe is expected to hold the second largest market share. Nearly 2.2 in 10,000 people in the European Union (EU) are affected with Fabry disease and Fabrazyme (agalsidase beta), Galafold (migalastat) and Replagal (agalsidase alfa) are the three authorized drugs used for the treatment of Fabry disease.

Asia-Pacific is expected to be the fastest growing market owing to the improving healthcare infrastructure.

Moreover, the Middle East and Africa region is expected to hold the least market share in the global Fabry disease market.


The Global Fabry Disease Market outlook has been segmented into type, diagnosis & treatment and end user.

The market, on the basis of type, has been segmented into type-1 and type-2. The type-2 Fabry disease holds the major market share due to the high occurrence of type-2 Fabry disease i.e. 1 in 1,500 to 4000 males.

The market, by diagnosis & treatment, has been segmented into diagnosis and treatment. The diagnosis segment is further classified as blood test, urine test, thyroid test, lung function test, and imaging. The imaging segment includes electrocardiogram (EKG), echocardiogram, brain MRI, CT scan and others. The treatment segment is further classified as enzyme replacement therapy, gene therapy, pharmaceutical formulations containing agalsidase alfa, analgesics, anticonvulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and others.

The market, by end user, has been segmented into hospitals & clinics, diagnostic centers, research & academic institutes, and others.

Key Players:
Some of the prominent players in the global Fabry disease market are Amgen Inc., Amicus Therapeutics, Inc., AVROBIO, Inc., Idorsia Pharmaceuticals Ltd, Protalix, Bristol-Myers Squibb Company, GlaxoSmithKline, iBio, Inc., Neuraltus Pharmaceuticals, Inc., Novartis AG, Pfizer Inc., Sanofi, Shire, Takeda Pharmaceutical Company Limited, Teva Pharmaceutical Industries Ltd and others.


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