DUBLIN--(BUSINESS WIRE)--The "Aicardi Goutieres Syndrome - Epidemiology Forecast - 2032" report has been added to ResearchAndMarkets.com's offering.
This 'Aicardi-Goutieres Syndrome (AGS) - Epidemiology Forecast - 2032' report delivers an in-depth understanding of the historical and forecasted epidemiology of Aicardi-Goutieres Syndrome (AGS) in the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan.
Aicardi-Goutieres Syndrome (AGS): Disease UnderstandingAicardi-Goutieres Syndrome (AGS) Overview
According to the National Organization for Rare Diseases, Aicardi-Goutieres syndrome (AGS) is an inherited disease mainly affecting the brain, immune system, and skin. The loss of white matter (leukodystrophy) and abnormal deposits of calcium (calcification) in the brain lead to early-onset severe brain dysfunction (encephalopathy) usually resulting in severe intellectual and physical disability.
There are two forms of the syndrome: a severe, early-onset form and a late-onset form with less impact on neurological function. The early-onset form affects about 20% of all Aicardi-Goutieres Syndrome (AGS) babies. The signs and symptoms vary widely among affected people.
In mild cases, symptoms appear after the first weeks or months of normal development like the decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays. However, neurological and liver abnormalities, such as liver and spleen enlargement and elevated liver enzymes are reported in severe cases.
The disease occurs due to mutations in the TREX1, RNASEH2A, RNASEH2B, SAMHD1, ADAR, IFIH1, and RNASEH2C genes that lead to a buildup of small pieces of DNA in the brain, which triggers the immune response. It is most frequently inherited in an autosomal recessive manner whereas, in a few instances, the disease results from specific de novo or inherited autosomal dominant pathogenic variants in ADAR or TREX1 and a variety of heterozygous autosomal dominant pathogenic variants in IFIH1.
It is difficult to diagnose Aicardi-Goutieres Syndrome (AGS) since several symptoms appear similar to other diseases. The diagnosis is based on the clinical symptoms of the disease, as well as characteristic brain abnormalities observed in an MRI brain scan. Additionally, Cerebrospinal fluid (CSF) is tested for increased levels of a specific immune system cell (a lymphocyte), indicating chronic lymphocytosis.
Currently, no curative therapy is available. The present treatment focuses on managing symptoms and complications based on the severity of AGS. Chest physiotherapy, treatment for respiratory complications, and anticonvulsant medications manage seizures.
Despite advances in understanding the Aicardi-Goutieres Syndrome (AGS) pathology spectrum, a systemic cure is still not developed. Hence, there is an urgent unmet medical need to diagnose better, treat, and eradicate AGS.
However, many aspects of the Aicardi-Goutieres Syndrome (AGS) pathogenesis have been clarified to hypothesize new therapeutic strategies. A few studies have highlighted the possible positive effects of JAK inhibitors and antiretroviral on the CNS and, therefore, on AGS.
Aicardi-Goutieres Syndrome (AGS) : Epidemiology
The Aicardi-Goutieres Syndrome (AGS) epidemiology division provides insights into the historical and current patient pool, along with the forecast 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 report also provides the diagnosed patient pool and their trends, along with assumptions undertaken.
Country-wise Aicardi-Goutieres Syndrome (AGS) Epidemiology
The total prevalent patient population of Aicardi-Goutieres Syndrome (AGS) in the 7MM countries was more than 850 cases in 2021.
As per the estimates, the US had the highest total prevalent patient population of Aicardi-Goutieres Syndrome (AGS) population in 2021. Among the EU5 countries, Germany had the highest total prevalent patient population of Aicardi-Goutieres Syndrome (AGS) with 89 cases, followed by France in 2021.
On the other hand, Spain had the lowest total prevalent patient population of Aicardi-Goutieres Syndrome (AGS) close to 50 cases in 2021.
Scope of the Report
- Aicardi-Goutieres Syndrome (AGS) report covers a detailed overview explaining its causes, symptoms, pathophysiology, diagnosis, and treatment patterns.
- Aicardi-Goutieres Syndrome (AGS) epidemiology report and model provide an overview of the risk factors and global trends of Aicardi-Goutieres Syndrome (AGS) in the seven major markets (7MM: US, France, Germany, Italy, Spain, UK, and Japan).
- The report provides insight into the historical and forecasted patient pool of Aicardi-Goutieres Syndrome (AGS) in seven major markets covering the United States, EU5 (Germany, Spain, France, Italy, UK), and Japan.
- The report helps recognize the growth opportunities in the 7MM concerning the patient population.
- The report assesses the disease risk and burden and highlights the unmet needs of Aicardi-Goutieres Syndrome.
- The report provides the segmentation of the Aicardi-Goutieres Syndrome epidemiology by diagnosed prevalent cases of Aicardi-Goutieres Syndrome in the 7MM.
- The report provides the segmentation of the Aicardi-Goutieres Syndrome epidemiology by type -specific cases of Aicardi-Goutieres Syndrome (AGS) in the 7MM.
- The report provides the segmentation of the Aicardi-Goutieres Syndrome epidemiology by gender- specific cases of Aicardi-Goutieres Syndrome in the 7MM.
- 11-year Forecast of Aicardi-Goutieres Syndrome epidemiology
- 7MM Coverage
- Prevalent cases of Aicardi-Goutieres Syndrome
- Type-specific cases of Aicardi-Goutieres Syndrome
- Gender-specific cases of Aicardi-Goutieres Syndrome
- Patient Segmentation
- Disease Risk and Burden
- Risk of disease by the segmentation
- Factors driving growth in a specific patient population
- The United States
- EU5 (Germany, France, Italy, Spain, and the United Kingdom)
Key Topics Covered:
1. Key Insights
2. Report Introduction
3. Aicardi-Goutieres Syndrome Epidemiology Overview at a Glance
3.1. Patient Share (%) Distribution of Aicardi-Goutieres Syndrome in 2019
3.2. Patient Share (%) Distribution of Aicardi-Goutieres Syndrome in 2032
4. Executive Summary
5. Disease Background and Overview
5.3. Signs and Symptoms
5.5.1. Differential Diagnosis
5.5.2. Diagnosis of AGS
5.6. Treatment and Management of AGS
5.6.1. Anticipatory Guidance for symptomatic management in AGS
6. Epidemiology and Patient Population
6.1. Key Findings
6.2. Total Diagnosed Prevalent Population of Aicardi-Goutieres Syndromein the 7MM
6.3. Assumptions and Rationale
6.3.1. Assumptions and Rationale
6.4. The United States
6.4.1. Total Diagnosed Prevalent Cases of Aicardi-Goutieres Syndromein the United States
6.4.2. Gender-specific Cases of Aicardi-Goutieres Syndromein the United States
6.4.3. Type-specific Cases of Aicardi-Goutieres Syndromein the United States
6.5.1. Total Diagnosed Prevalent Cases of Aicardi-Goutieres Syndromein the EU-5
6.5.6. The United Kingdom
7. Patient Journey
8. KOL Views
For more information about this report visit www.researchandmarkets.com/r/u7uzv0