Aicardi Goutieres Syndrome - Epidemiology Forecast - 2032

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 Understanding

Aicardi-Goutieres Syndrome (AGS) Overview

According to the National Organization for Rare Diseases, Aicardi-Goutières 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.

Key Findings

The disease epidemiology covered in the report provides historical and forecasted Aicardi-Goutieres Syndrome (AGS) epidemiology segmented as the diagnosed prevalent cases of Aicardi-Goutieres Syndrome (AGS), Type-specific cases of Aicardi-Goutieres Syndrome (AGS), and Gender-specific cases of Aicardi-Goutieres Syndrome (AGS). The report includes the diagnosed prevalent scenario of Aicardi-Goutieres Syndrome (AGS) in the 7MM covering the United States, EU5 countries (Germany, France, Italy, Spain, and the United Kingdom), and Japan from 2019 to 2032.

Country-wise Aicardi-Goutieres Syndrome (AGS) Epidemiology

The epidemiology segment also provides the Aicardi-Goutieres Syndrome (AGS) epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

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.

Report Highlights

• 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

KOL Views

The publisher interviews KOLs and obtain SME's opinions 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 treatments by identifying the overall scenario of the indications.

Key Questions Answered

• What are the major factors that will drive the change in patient population in Aicardi-Goutieres Syndrome during the forecast petiod (2019-2032)?
• What are the key findings pertaining to the Aicardi-Goutieres Syndrome epidemiology across 7MM, and which country will have the highest number of patients during the forecast period (2019-2032)?
• What would be the total number of patients with Aicardi-Goutieres Syndrome across the 7MM during the forecast period (2019-2032)?
• Among the EU5 countries, which country will have the highest number of patients during the forecast period (2019-2032)?
• At what CAGR is the patient population expected to grow in the 7MM forecast period (2019-2032)?
• What are the disease risk, burdens, and unmet needs of Aicardi-Goutieres Syndrome?
• What are the currently available treatments for Aicardi-Goutieres Syndrome?

Reasons to Buy

Aicardi-Goutieres Syndrome Epidemiology report will allow the user to:

• Develop business strategies by understanding the trends shaping and driving the global Aicardi-Goutieres Syndrome market
• Quantify patient populations in the global Aicardi-Goutieres Syndrome market to improve product design, pricing, and launch plans
• Understand the magnitude of the Aicardi-Goutieres Syndrome population by its diagnosed prevalent cases.
• Understand the magnitude of the Aicardi-Goutieres Syndrome population by its type-specific cases of Aicardi-Goutieres Syndrome.
• Understand the magnitude of the Aicardi-Goutieres Syndrome population by its gender- specific cases of Aicardi-Goutieres Syndrome.
• The Aicardi-Goutieres Syndrome epidemiology report and model were written and developed by Masters and PhD level epidemiologists
• The Aicardi-Goutieres Syndrome Epidemiology Model developed by the publisher is easy to navigate, interactive with dashboards, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports the data presented in the report and showcases disease trends over an 11-year forecast period using reputable sources

Key Assessments

• Patient Segmentation
• Disease Risk and Burden
• Risk of disease by the segmentation
• Factors driving growth in a specific patient population

Geographies Covered

• The United States
• EU5 (Germany, France, Italy, Spain, and the United Kingdom)
• Japan

Study Period: 2019-2032