Prevalence of Cystinosis in 19 Major Markets 2017-2027

58 pages


This report provides the current prevalence of Cystinosis in 19 major markets.


Cystinosis is a rare inherited lysosomal storage disorder caused by mutations in the CTNS gene that encodes cystinosin, a lysosomal cystine–proton co-transporter. This results in an abnormal accumulation of the amino acid cystine within the lysosomes of all body cells and tissues. Although it is a monogenic, autosomal recessive disease, there are three clinical presentations of cystinosis based on the age at diagnosis and the magnitude of cellular cystine deposition

This report provides the current prevalence for cystinosis across 19 Major Markets (USA, Canada, France, Germany, Italy, Spain, UK, Poland, Austria, The Netherlands, Ireland, Turkey, Japan, South Korea, India, Australia, Brazil, Mexico, Argentina) split by gender and 5-year age cohort. Along with the current prevalence, the report also contains a disease overview of the risk factors, disease diagnosis and prognosis along with specific variations by geography and ethnicity.

Providing a value-added level of insight from the analysis team at Black Swan, the three clinical presentations of cystinosis have been quantified and presented alongside the overall prevalence figures. These sub-populations within the main disease are also included at a country level across the 10-year forecast snapshot.

This report is built using data and information sourced from the proprietary Epiomic patient segmentation database. To generate accurate patient population estimates, the Epiomic database utilises a combination of several world class sources that deliver the most up to date information form patient registries, clinical trials and epidemiology studies. All of the sources used to generate the data and analysis have been identified in the report.

Reason to buy

  • Able to quantify patient populations in global cystinosis market to target the development of future products, pricing strategies and launch plans.
  • Gain further insight into the prevalence of the subdivided types of cystinosis and identify patient segments with high potential.
  • Delivery of more accurate information for clinical trials in study sizing and realistic patient recruitment for various countries.
  • Provide a level of understanding on the impact from specific clinical presentations of the disease on cystinosis prevalence.
  • Identify sub-populations within cystinosis which require treatment.
  • Gain an understanding of the specific markets that have the largest number of cystinosis patients.

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This report provides the current prevalence of Cystinosis in 19 major markets.