Fabry Disease Epidemiology Study

Fabry Disease Epidemiology Study Objective:

To determine the prevalence and incidence of Fabry Disease among individuals in a defined population. This objective outlines the primary aim of the study, which is to establish the frequency of Fabry Disease within a specific age group and geographic area, while also seeking to understand potential factors contributing to its development. Moreover, the report is having geographic coverage including North America, Europe and rest of the world however customisation can be made in the geographic coverage.

Fabry Disease Study USP:

• This epidemiological study on Fabry Disease stands out due to its comprehensive approach in establishing precise prevalence rates, identifying novel risk factors, and exploring geographical variations in a diverse population.


• By integrating advanced imaging techniques with robust statistical analyses, the study aims to provide actionable insights to identify treatment opportunities, target population, and an overview on public health initiatives aimed at mitigating the impact of Fabry Disease related health problems.


• Through meticulous data collection and rigorous methodology, the study not only contributes to the scientific understanding of Fabry Disease but also serves as a foundation for future research events and healthcare policymaking in addressing this increasing Fabry Disease cases.

Fabry Disease related Study Overview:

The study Defines Fabry Disease as an advanced form of disease. The significance of studying Fabry Disease epidemiology is due to its increasing prevalence in different age populations.

Fabry Disease Study Design:

Population: The target population and the sampling method (e.g., random sampling from healthcare registries or population databases)

Data Collection: Detail methods for identifying Fabry Disease cases (e.g., clinical examination, imaging studies) and demographic data (age, sex, ethnicity).

Fabry Disease Epidemiological Parameters:

Prevalence: Prevalence rates considered per 1,000 or 10,000 population.

Incidence: Determine annual incidence rates per 1,000 person-years.

Risk Factors: Analyse associations between Fabry Disease and potential risk factors

Geographical Variations: Compare prevalence or incidence rates across different regions or countries.        

Fabry Disease study summary:

Fabry Disease study summarizes the prevalence, incidence, possible risk factors, and geographic variations of the Fabry Disease worldwide.

Fabry Disease overview:

Fabry disease is a rare, inherited X-linked lysosomal storage disorder caused by deficiency or malfunction of enzyme alpha-galactosidase A. this enzyme is responsible for breaking down a specific type of fat called globotriaosylceramide (GL-3 or Gb3), deficiency of alpha galactosidase A leads to accumulation of Gb3, specially in blood vessels and tissues, causing symptoms like skin growths, pain in the extremities, poor vision, kidney failure, and heart disease.

Fabry disease is segmented into two types including classic and late onset Fabry disease. Classic Fabry disease, known as type 1 Fabry disease is characterised by GLA gene mutation with very less or almost no alpha- Gal A activity, with less than 1%, with no Gb3 in body, leading to accumulation of fat molecule in young age, causing more severe disease. Other type of Fabry Disease is Late onset Fabry disease, which manifest after age of 30 years, people with this condition have greater residual alpha Gal-A enzyme activity compared to people with classic Fabry disease with more than 1% and usually has slower disease progression.

Fabry disease is second most prevalent genetic metabolic storage disease globally, according to the study published in PubMed Central, 0.89 to 2.5 cases per 100000 individuals are estimated worldwide. Incidence rates are observed to range from 1 in 476,000 to 1 in 117,000 for the disease.

Treatment options available for the Fabry disease include Enzyme Replacement Therapy, Gene Therapy, Pharmaceutical Diagnosis and treatment Containing Agalsidase Alfa, Analgesics, Anticonvulsants, Nonsteroidal Anti-Inflammatory Drugs (NSAIDs). Key market players manufacturing the therapeutics for the treatment of Fabry disease include, 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.

Fabry Disease Demographic and Environmental Risk Factors:

Age and Sex:  since it is X linked disorder it affects majorly to males, who often experience more severe symptoms. According to the Fabry disease epidemiology data published in NCBI statPearls approximately 1:22,000 to 1:40,000 males are observed with Fabry disease mutations. Fabry disease is a progressive disorder and symptoms affecting kidney, heart, brain are mostly observed when patients are age 30 to 45 years. The clinical manifestations of classic Fabry disease usually start appearing in childhood or adolescence, Neuropathic pain due to Fabry Disease is observed to appear in childhood and has been reported to affect 77% of men and 70% of women in adulthood.

Ethnicity:  Fabry disease is Pan-ethnic. According to one of study of reported in science direct, in 2025, 90% whites are observed to have Fabry disease, 4% south Asians, 1% blacks and 2% mixed ethnic groups are observed with the Fabry disease.

Risk Factors causing Fabry Disease: Mutation in the galactosidase alpha genes encoding for alpha GAL enzyme, involved in breaking fatty substances is responsible to develop Fabry disease. Individuals inheriting the GLA gene mutated or defective in nature, which is not producing enough alpha GAL enzyme, causing build up of fatty substances in blood vessels is another factor causing the disease.

Fabry Disease Market Scope:

Drivers: Growing prevalence 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

Restraints: High cost of the treatment, limited patient population, challenges in early diagnosis, strict regulatory requirements, side effects of current therapies, limited awareness are some of the factors which can contribute to hamper the growth of the market involved in manufacturing the therapeutics for the treatment of the Fabry disease.