Systemic Primary Carnitine Deficiency (CDSP) is a rare autosomal recessive disorder caused by mutations in the SLC22A5 gene encoding organic cation transporter type 2 (OCTN2) that transports carnitine across cell membranes. To date, more than 160 unique mutations in the SLC22A5 gene have been reported, and the type of mutation affects the severity of symptoms, with some carriers of less severe mutations being asymptomatic.

This report provides the current prevalent population for CDSP across 19 Major Markets (USA, Canada, France, Germany, Italy, Spain, UK, Poland, Netherlands, Russia, Turkey, Japan, China, South Korea, India, Australia, Brazil, Mexico, Argentina) split by gender and 5-year age cohort. In addition to the current prevalence, the report provides an overview of the risk factors, diagnosis and prognosis of the disease, along with specific variations by geography and ethnicity.

Providing a value-added level of insight from the analysis team at Black Swan, several features of CDSP patients, as well as the main symptoms and comorbidities of the disease 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 of CDSP include:

  • Hepatic and cardiac signs and symptoms
  • Anaemia
  • Proximal muscle weakness
  • Developmental delay
  • Respiratory distress

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

  • Ability to quantify patient populations in global CDSP market to target the development of future products, pricing strategies and launch plans.
  • Further insight into the prevalence of the subdivided types of CDSP and identification of patient segments with high potential.
  • Delivery of more accurate information for clinical trials in study sizing and realistic patient recruitment for various countries.
  • Better understanding of the impact of specific co-morbid conditions on the prevalent population of CDSP patients.
  • Identification of CDSP patient sub-populations that require treatment.
  • Better understanding of the specific markets that have the largest number of CDSP patients.