Hexosaminidase A deficiency (HEX A deficiency) results in a group of neurodegenerative disorders caused by the dysfunctional activity of the specific glycosphingolipid GM2 ganglioside. The disease occurs when cell membrane components known as gangliosides, accumulate to toxic levels, particularly in neurons in the brain and spinal cord, leading to the destruction of neurons and interference with biological functions. The predominant HEX A deficiency is Tay-Sachs disease (TSD) with its common acute infantile variant, which begins around six months of age and usually results in death by the age of four. Alternative variants of the pathology are the juvenile and the adult-onset TSD types.
This report provides the current prevalent population for Tay Sachs disease across 9 Major Markets (USA, France, Germany, Italy, Spain, UK, Brazil, Japan and India) 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, several of the main symptoms and co-morbidities of Tay-Sachs 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 Tay-Sachs disease include:
• Visual problems
• Low muscle tone
• Seizures
• Neuromuscular abnormalities
• Speech disturbances
• Cerebellar dysfunctions/Impaired cognitive status
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 from 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 Tay-Sachs disease’s market to target the development of future products, pricing strategies and launch plans.
• Gain further insight into the prevalence of the subdivided types of Tay-Sachs disease 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 Tay-Sachs disease prevalent population.
• Identify sub-populations within Tay-Sachs disease which require treatment.
• Gain an understanding of the specific markets that have the largest number of Tay-Sachs disease patients.
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Table of Contents
• List of Tables and Figures
• Introduction
• Cause of the Disease
• Risk Factors & Prevention
• Diagnosis of the Disease
• Variation by Geography/Ethnicity
• Disease Prognosis & Clinical Course
• Key Co-morbid Conditions /Features Associated with the Disease
• Methodology for Quantification of Patient Numbers
• Top-Line Prevalence for TSD
o Genetic Features of TSD Patients
o TSD Phenotype Classification
o Co-morbidities within Infantile TSD
o Co-morbidities within Late-Onset TSD
• Abbreviations used in the Report
• Other Black Swan Analysis Publications
• Black Swan Analysis Online Patient-Based Databases
• Patient-Based Offering
• Online Pricing Data and Platforms
• References
• Appendix
List of Tables
• Prevalence of Tay-Sachs Disease, total (000s)
• Prevalence of Tay-Sachs Disease, males (000s)
• Prevalence of Tay-Sachs Disease, females (000s)
• Prevalence of class of variant alleles of Tay-Sachs patients, total (000s)
• Prevalence of Tay-Sachs patients by phenotype, total (000s)
• Low muscle tone in infantile Tay-Sachs patients, total (000s)
• Seizures in infantile Tay-Sachs patients, total (000s)
• Visual problems in infantile Tay-Sachs patients, total (000s)
• Neuromuscular abnormalities in Late-onset Tay-Sachs Disease, total (000s)
• Speech disturbances in Late-onset Tay-Sachs Disease, total (000s)
• Impaired Cognitive status in Late-onset Tay-Sachs Disease, total (000s)
• Abbreviations and acronyms used in the report
• USA Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• USA Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• France Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• France Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• Germany Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• Germany Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• Italy Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• Italy Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• Spain Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• Spain Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• United Kingdom Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• United Kingdom Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• Brazil Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• Brazil Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• Japan Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• Japan Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
• India Prevalence of Tay-Sachs Disease by 5-yr age cohort, males (000s)
• India Prevalence of Tay-Sachs Disease by 5-yr age cohort, females (000s)
