Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disease caused by mutations in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). The disease manifests by severe hyperuricaemia resulting in motor dysfunction, intellectual disability and behavioural problems including recurrent self-injury. Many clinically relevant mutations in the HPRT1 gene have been found, suggesting that the level of residual enzyme activity is usually the key feature affecting the clinical image of the disease.
This report provides the current prevalent population for Lesch–Nyhan syndrome across 24 Major Markets (USA, Canada, France, Germany, Italy, Spain, UK, Poland, Netherlands, 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, some features of Lesch–Nyhan syndrome patients, as well as several of the main symptoms and co-morbidities 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 Lesch–Nyhan syndrome include:
- Various degree of physical disability
- Delayed growth and puberty
- Gouty arthritis with flare-ups
- Kidney and bladder stones
- Infections of self-inflicted wounds
- Megaloblastic anaemia
- Cardiovascular complications
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 Lesch–Nyhan syndrome market to target the development of future products, pricing strategies and launch plans.
- Gain further insight into the prevalence of the subdivided types of Lesch–Nyhan syndrome 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 Lesch–Nyhan syndrome’s prevalent population.
- Identify sub-populations within Lesch–Nyhan syndrome which require treatment.
- Gain an understanding of the specific markets that have the largest number of Lesch–Nyhan syndrome patients.