Fabry Disease - Market Insight, Epidemiology And Market Forecast - 2032

Key Highlights:

• In 2022, the market size of Fabry Disease was highest in the US among the 7MM, accounting for approximately USD 625 million which is further expected to increase by 2032.
• The products which have been approved or likely to hit the market during our study period 2023-2032 include Venglustat (GZ402671), Isaralgagene civaparvovec (ST 920), and PRX-102 (Elfabrio) in the 7MM.

This “Fabry Disease- Market Insights, Epidemiology and Market Forecast- 2032” 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, and France) and the United Kingdom, and Japan.

The Fabry Disease market report provides current treatment practices, emerging drugs, market size, and market share of the individual therapies, and current and forecasted 7MM from 2019 to 2032. The report also covers current Fabry Disease treatment practices/algorithms and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the market.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2019-2032

Fabry Disease Understanding and Treatment Algorithm

Fabry disease (FD) is an inherited condition characterized by lysosomal dysfunction associated with the X chromosome. It is caused by mutations in the alpha-galactosidase-A gene (GLA gene), located in chromosome Xq22.1, which encodes the alpha-galactosidase A (AGA) enzyme. FD is considered one of the most prevalent lysosomal storage diseases, second only to Gaucher Disease. The disease is characterized by specific neurological, cutaneous, renal, cardiovascular, cochleovestibular, and cerebrovascular manifestations.

Fabry Disease is classified as the Type 1 classic and Type 2 later-onset based on the disease phenotype. Both sub-types result in renal failure, and/or cardiac disease, and early death.

Signs and symptoms of Fabry Disease Chronic neuropathic pain, gastrointestinal disturbances, angiokeratoma, progressive renal impairment, cardiomyopathy, and stroke are observed among the patients. In addition, the symptoms that appear during childhood or adolescence may vary according to age. Gastrointestinal symptoms such as nausea, vomiting, diarrhea, abdominal discomfort and pain, and weight loss are also observed among the patients.

Fabry Disease Diagnosis

Usually, family screening is mainly recommended for the diagnosis of the disease. Enzyme assay is also recommended for measuring the amount of a-GAL enzyme activity in the blood. It is used for conducting a definitive diagnosis of Fabry Disease. Diagnosis in women is made through biopsied tissues of urinary sediment in females. Cultured amniotic fluid cells, chorionic villus sampling, and amniocentesis are used for diagnosing Fabry Disease in prenatal.

Fabry Disease Treatment

The Fabry disease causes multi-organ dysfunction, and patients need a comprehensive, multi-disciplinary treatment plan that is individually tailored and includes specific therapies that target abnormal substrate accumulation and adjuvant therapies that address end-organ damage.

Enzyme replacement therapy (ERT) is the cornerstone for the treatment of Fabry disease, and synthetic enzyme, produced by recombinant DNA technology, is infused intravenously. The treatment also includes chaperone therapy which was approved in 2018 in the US.

A few emerging therapies, like Venglustat (Sanofi), Isaralgagene civaparvovec (ST 920) (Sangamo Therapeutics), etc., are being investigated for the disease.

In a nutshell, it is estimated that the Fabry Disease treatment space will experience significant changes during the forecast period of 2023-2032, owing to the launch of novel therapies in clinical development for the management of Fabry Disease. However, the challenges of pricing and reimbursement, along with associated side effects, are two major factors likely to influence the market success of the upcoming therapies.

Fabry Disease Epidemiology

As the market is derived using a patient-based model, the Fabry Disease epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by Diagnosed Prevalent cases of Fabry Disease, Gender-specific Diagnosed Prevalent cases of Fabry Disease, Age-specific Diagnosed Prevalent Cases of Fabry Disease, and Phenotype-specific Diagnosed Prevalent Cases of Fabry Disease in the 7MM covering, the United States, EU4 countries (Germany, France, Italy, and Spain), United Kingdom, and Japan from 2019 to 2032.

• There were 15,290 diagnosed prevalent cases of Fabry Disease estimated to have occurred in the 7MM in 2022 of which 8,355 of the accounted cases were estimated to be from the US alone and these cases are anticipated to increase during the forecast period.
• The diagnosed prevalent cases of Fabry Disease were further divided into Phenotype-specific cases. The Phenotype-specific diagnosed prevalent cases of Fabry Disease are categorized into Classic and Late-onset with 6,939, and 8,351 cases respectively in the 7MM in 2022 which will further increase in 2032.
• The age-specific cases of Fabry Disease were categorized into less than 10 years, 10-19 years, 20-29 years, 30-39 years, 40-49 years, and 50+ years, with 343, 498, 204, 204, 229 and 212 cases in Japan in 2022.

Fabry Disease Drug Chapters

The drug chapter segment of the Fabry Disease report encloses a detailed analysis of Fabry Disease late-stage and mid-stage (Phase-III and Phase-II) pipe drugs. It also helps to understand the Fabry Disease clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, advantages and disadvantages of each included drug, and the latest news and press releases.

Marketed Drugs (Included Information)

ELFABRIO (PRX-102): Chiesi and Protalix Biotherapeutics

PRX-102 (pegunigalsidase alfa), a PEGylated enzyme replacement therapy (ERT) to treat Fabry disease, is a plant cell culture-expressed, and chemically modified stabilized recombinant version of the a-Galactosidase-A enzyme. It is a PEGylated enzyme replacement therapy which means that it has been modified with a polymer called polyethylene glycol (PEG). These modifications make the drug more stable and help it to last longer in the body. Elfabrio works by replacing the missing alpha-galactosidase A enzyme, which is responsible for breaking down Gb3. The active substance in Elfabrio, pegunigalsidase alfa, is a copy of the human enzyme, produced by a method known as ‘recombinant DNA technology.

On May 10, 2023, Chiesi Global Rare Diseases, and Protalix Biotherapeutics, announced that the US FDA has approved ELFABRIO (pegunigalsidase alfa) in the United States for the treatment of adult patients with Fabry disease.

Detailed marketed therapies list will be provided in the final report.

Emerging Drugs

Venglustat: Sanofi Genzyme

Venglustat (also known as ibiglustat) is an orally administered small molecule being developed by Sanofi Genzyme to treat Fabry disease. It is an inhibitor of an enzyme called glucosylceramide synthase (GCS) and modifies the enzyme substrates. When Venglustat inhibits GCS, it prevents the synthesis of GL-1, thereby reducing the substrate of the following reactions that lead to the formation of Gb3 and its accumulation in the absence of a-galactosidase A. Due to this mechanism of action Venglustat is called substrate reduction therapy (Sanofi, 2021). This molecule is currently in the Phase III stage of clinical development for Fabry disease. The company also expects to file a submission by 2025.

Detailed emerging therapies list will be provided in the final report.

Fabry Disease Market Outlook

Treatment of Fabry disease consists of enzyme replacement therapy (ERT), oral chaperone therapy, and adjunctive treatments including ACE inhibitors or angiotensin receptor blockers, antiplatelet drugs, and analgesics. Studies have shown that ERT can delay, but not always prevent, some of the clinical complications of FD. Currently, the effective management of Fabry disease requires a multidisciplinary approach with comprehensive therapy of intravenously administered ERT or chaperone therapy and adjunct therapies, including lifestyle modifications and prophylactic medications.

The major market player in the Fabry Disease therapeutic market is Sanofi Genzyme.

ST-920 (isaralgagene civaparvovecis) is an innovative gene therapy being developed by Sangamo Therapeutics to treat Fabry disease. It utilizes a sophisticated approach involving an adeno-associated virus (AAV) vector carrying a specialized GLA gene construct. The GLA gene construct is driven by a proprietary liver-specific promoter developed by Sangamo. The primary objective of this gene therapy is to empower the patient's liver to produce a consistent and prolonged supply of the a-Gal A enzyme.

The company is investigating this gene therapy in Phase I/II STAAR clinical trials in patients with Fabry disease (Sangamo Therapeutics, 2021c).

• The total market size of Fabry Disease in the 7MM is approximately USD 1,306 million in 2022 and is projected to increase during the forecast period (2023-2032)
• The market size of Fabry Disease in the 7MM will increase at a CAGR of about 6.3% due to increasing awareness of the disease and the launch of the emerging drug
• Among EU countries, the UK and Italy accounts for the maximum market size of USD 158, and USD 150 million in 2022 while Spain occupies the bottom of the ladder in the same year with USD 44 million.
• Japan accounts for a market size of USD 125 million in 2022, but these dynamics are expected to change in the forecast period.

Fabry Disease Drug Uptake

This section focuses on the rate of uptake of the potential drug expected to get launched in the market during the study period 2019-2032. For example, we estimate the drug Venglustat will be launched in the year 2026 in the US. Currently, Grass Venglustat is in Phase III of the clinical trial stage.

Fabry Disease Pipeline Development Activities

The report provides insights into different therapeutic candidates in Phase III, Phase II, and Phase I stage. It also analyzes key players involved in developing targeted therapeutics.

Pipeline Development Activities

The report covers detailed information on collaborations, acquisition and merger, licensing, and patent details for Fabry Disease emerging therapies.

KOL-Views

To keep up with the current market trends, we take KOLs and SMEs' opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on Fabry Disease's evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, drug uptake along with challenges related to accessibility, include Louis Pradel University Hospital, Lyon, France; Hospital General de Tomelloso, Tomelloso, Spain, and the Toyama Medical and Pharmaceutical University, Japan.

This analysts connected with 50+ KOLs to gather insights, however, interviews were conducted with 15+ KOLs in the 7MM. Centers such as the Tulane University School of Medicine, New Orleans, Louisiana, US, and the University Hospital Heidelberg, Heidelberg, Germany, etc. were contacted. Their opinion helps to understand and validate current and emerging therapies and treatment patterns or Fabry Disease market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the market and the unmet needs.

Qualitative Analysis

The publisher performs Qualitative and market Intelligence analysis using various approaches, such as SWOT analysis. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst's discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Market Access and Reimbursement

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Scope of the Report

• The report covers a segment of key events, an executive summary, descriptive overview of Fabry Disease, explaining its causes, signs and symptoms, pathogenesis, and currently available therapies.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, and disease progression along with treatment guidelines.
• Additionally, an all-inclusive account of both the current and emerging therapies along with the elaborative profiles of late-stage and prominent therapies will have an impact on the current treatment landscape.
• A detailed review of the Fabry Disease market; historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the report, covering the 7MM drug outreach.
• The report provides an edge while developing business strategies, by understanding trends, through SWOT analysis and expert insights/KOL views, patient journey, and treatment preferences that help in shaping and driving the 7MM Fabry Disease market.

Fabry Disease Report Insights

• Patient Population
• Therapeutic Approaches
• Pipeline Analysis
• Fabry Disease Market Size and Trends
• Existing and future Market Opportunity

Fabry Disease Report Key Strengths

• 10 Years Forecast
• 7MM Coverage
• Fabry Disease Epidemiology Segmentation
• Key Cross Competition
• Drug Uptake and Key Market Forecast Assumptions

Fabry Disease Report Assessment

• Current Treatment Practices
• Unmet Needs
• Pipeline Product Profiles
• Market Attractiveness
• Qualitative Analysis (SWOT Analysis)

Key Questions Answered

Market Insights:

• What was the Fabry Disease total market size, the market size by therapies, and market share (%) distribution in 2019, and how it would all look in 2032? What are the contributing factors for this growth?
• What will be the impact on the market with the launch of ELFABRIO?
• How much market will be captured by ELFABRIO after its launch?
• What are the pricing variations among different geographies for Fabrazyme, Replagal, and Galafold?
• How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends?

Epidemiology Insights:

• What are the disease risk, burdens, and unmet needs of Fabry Disease? What will be the growth opportunities across the 7MM with respect to the patient population pertaining to Fabry Disease?
• What is the historical and forecasted Fabry Disease patient pool in the United States, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan?
• How many male and female patients are of Fabry Disease?
• How many patients of Fabry Disease are in the age group of less than 10-19 years, 20-29 years, 30-39 years, 40-49, and above 50 years?
• What factors are affecting the increase in the diagnosis of Fabry Disease?

Current Treatment Scenario, Marketed Drug, and Emerging Therapies:

• What are the current options for the standard of care for Fabry Disease? What are the current treatment guidelines for the treatment of Fabry Disease in the US and Europe?
• How many companies are developing therapies for the treatment of Fabry Disease?
• How many emerging therapies are in the mid-stage and late stage of development for the treatment of Fabry Disease?
• What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitation of existing therapies?
• What are the patents of emerging therapies for Fabry Disease?
• What will be the impact on the market after the expected patent expiry of the emerging drug?
• What is the cost burden of marketed therapies on patients?
• Patient acceptability in terms of preferred treatment options as per real-world scenarios?
• What are the country-specific accessibility issues of recommended therapies? Focus on reimbursement policies.
• What are the 7MM historical and forecasted market of Fabry Disease?

Reasons to Buy

• The report will help in developing business strategies by understanding the latest trends and changing treatment dynamics driving the Fabry Disease Market
• Insights on patient burden/disease prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years
• To understand the existing market opportunity in varying geographies and the growth potential over the coming years.
• Distribution of historical and current patient share based on real-world prescription data along with reported sales of current products in the US, EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan.
• Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
• Detailed analysis and potential of current and emerging therapies to provide visibility around leading emerging drugs.
• Highlights of Access and Reimbursement policies for Fabrazyme, Replagal, Galafold, and Elfabrio.
• To understand the perspective of Key Opinion Leaders around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet need of the existing market so that the upcoming players can strengthen their development and launch strategy.