Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations in the CYP27A1 gene encoding a cytochrome P450 oxidase, also known as sterol 27-hydroxylase. The lack of the functional enzyme results in a reduced production of chenodeoxycholic acid (CDCA) and cholic acid (CA), components of bile, as well as accumulation of cholestanol and cholesterol in different tissues, e.g., brain, tendons, lenses, bones and vessels. No genotype–phenotype correlations have been identified, and the phenotypic manifestation can vary even between identical twins.

This report provides the current prevalent population for CTX across 18 Major Markets (USA, Canada, France, Germany, Italy, Spain, UK, Japan, Russia, Brazil, Poland, Austria, The Netherlands, Turkey, India, China, 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, several of the main symptoms and co-morbidities of CTX 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.

Main symptoms and co-morbidities for CTX include:

  • Chronic diarrhoea
  • Developmental cataracts
  • Tendon xanthomas
  • Seizures
  • Intellectual impairment
  • Osteoporosis

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 CTX market to target the development of future products, pricing strategies and launch plans.
  • Gain further insight into the prevalence of the subdivided types of CTX 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 co-morbid conditions on CTX prevalent population.
  • Identify sub-populations within CTX which require treatment.
  • Gain an understanding of the specific markets that have the largest number of CTX patients.