Market Research Report
Alagille syndrome - Epidemiology Forecast-2030
|Published by||DelveInsight Business Research LLP||Product code||952554|
|Published||Content info||80 Pages
Delivery time: 1-2 business days
|Alagille syndrome - Epidemiology Forecast-2030|
|Published: August 1, 2020||Content info: 80 Pages||
DelveInsight's 'Alagille syndrome - Epidemiology Forecast-2030' report delivers an in-depth understanding of the Alagille syndrome, historical and forecasted epidemiology in the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan.
Alagille syndrome is a genetic disorder that is caused by a mutation in either JAG1 or NOTCH 2 gene. These genes are located on chromosomes 20 and 1, respectively; this mutation is an autosomal dominant mutation with a large section of the population acquiring it de novo. It is a rare disease with an incidence of 1 in 30,000 and is characterized by high phenotypic variability. Alagille syndrome is generally associated with cholestasis, jaundice, pruritus, congenital heart defects, kidney defects, bone disorders like butterfly vertebrae, among others; a large number of patients require liver transplantation due to complications.
Many unmet needs are associated with this disorder; this disease is difficult to diagnose due to the unavailability of a reliable biomarker. Moreover, the current treatment available is symptomatic and do not address the underlying cause of the disease. Therefore, it becomes imperative that such needs are fulfilled to have an efficient and reliable method to treat this disease.
The Alagille syndrome epidemiology division provides insights about the historical and current patient pool, along with the forecasted trend for every seven major countries. It helps recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the our report also provides the diagnosed patient pool and their trends along with assumptions undertaken.
The total prevalent cases of Alagille syndrome patients are increasing in 7MM during the study period, i.e. 2017-2030.
The disease epidemiology covered in the report provides historical as well as forecasted Alagille syndrome symptoms epidemiology segmented as the Total Prevalent cases of Alagille syndrome, Gender-specific cases of Alagille syndrome, Age-specific cases of Alagille syndrome. The report includes the prevalent scenario of Alagille syndrome symptoms in 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan from 2017 to 2030.
The epidemiology segment also provides the Alagille syndrome epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.
The total prevalent cases of Alagille syndrome associated in 7MM countries were 17,486 in 2017.
We interview KOLs, and SME's opinion through primary research to fill the data gaps and validate our secondary research. The opinion helps understand the total patient population and current treatment pattern. This will support the clients in potential upcoming novel treatment by identifying the overall scenario of the indications.
The Alagille syndrome epidemiology report will allow the user to -
Study Period: 2017-2030.
Alagille syndrome is caused by a mutation in JAG1 or Notch2 gene. Almost 90% of cases are due to mutations in JAG1 (20p12), an additional 5-7% are due to deletions incorporating JAG1, and about 1% is due to mutations in NOTCH2 (1p13). ALGS may be referred to as type 1 (JAG1-associated) or type 2 (NOTCH2-associated).
Wathen et al. did a sequential screening of 247 clinically well-defined patients and found that JAG1 mutations were there in 232 out of 247 patients studied, and 83 of the mutations were novel. This increase in the mutation rate was accomplished by combining rigorous clinical phenotyping, with a combination of mutation detection techniques, including fluorescence in situ hybridization (FISH), genomic and cDNA sequencing, and quantitative PCR. Eighty-five percent of patients have bile duct paucity, 96% have chronic cholestasis, 97% have a cardiac murmur, 51% have vertebral anomalies, 96% have facies, and 40% have renal disease