acid sphingomyelinase deficiency asmd epidemiology

DelveInsight’s ‘Acid Sphingomyelinase Deficiency (ASMD) - Epidemiology Forecast to 2034’ report delivers an in-depth understanding of the disease, historical and forecasted Acid Sphingomyelinase Deficiency (ASMD) epidemiology in Spain.

Geographies Covered

• Spain

Study Period: 2021-2034

Acid Sphingomyelinase Deficiency (ASMD) Understanding

Acid Sphingomyelinase Deficiency (ASMD) is also known as Niemann-Pick disease, is a rare progressive genetic disorder that results from a deficiency of the sphingomyelinase, an enzyme acid that is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various tissues of the body.  ASMD is caused by mutations in the SMPD1 gene and is inherited in an autosomal recessive manner.  It is divided into three types based on symptom severity and appearance: ASMD type A, ASMD type A/B, and ASMD type B.

 

Niemann-Pick disease is divided into three kinds: Types A (neuronopathic), B (non-neuronopathic), and C. Although these disorders were once classified together due to similar symptoms, they are now known as distinct diseases. Types A and B of NPD are caused by mutations in the SMPD1 gene, which result in a lack of an enzyme called acid sphingomyelinase (ASM). NPD type C is caused by mutations in one of two genes and does not entail an enzyme deficiency. NPD type C is currently considered a different condition from NPD types A and B.

 

Hepatosplenomegaly is a common initial symptom of ASMD and it can range from mild to massive enlargement. Progressive enlargement of the spleen can cause low levels of platelets and white blood cells. White blood cells help fight infection, and a reduced number of these cells can leave an affected individual susceptible to infection. Platelets are specialized blood cells that allow the body to form clots to stop bleeding. A reduced number of platelets, known as thrombocytopenia, can lead to episodes of prolonged bleeding

 

Acid Sphingomyelinase Deficiency (ASMD) Diagnosis

Diagnosis of ASMD is based upon identifying characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Like clinical testing, individuals suspected of ASMD will be tested to determine whether the enzyme activity, ASM, is reduced or absent. Peripheral blood leukocytes or cultured skin fibroblasts are examined to assess residual ASM activity. The diagnosis is confirmed when a suspected sample demonstrates less than 10% of a control sample. Molecular genetic testing, and another diagnostic method, can confirm a diagnosis of ASMD. It can detect mutations in the SMPD1 gene known to cause the disorder but is available only as a diagnostic service at specialized laboratories.

Epidemiology Perspective by DelveInsight

The Acid Sphingomyelinase Deficiency (ASMD) epidemiology division provides insights about historical and current Acid Sphingomyelinase Deficiency (ASMD) patient pool and forecasted trends for Spain. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken.

 

Key Findings

In the year 2020, the diagnosed prevalent cases of Acid Sphingomyelinase Deficiency (ASMD) was 38 cases in Spain which are expected to grow during the study period, i.e., 2021-2034.

 

The disease epidemiology covered in the report provides historical as well as forecasted Acid Sphingomyelinase Deficiency (ASMD) epidemiology [segmented as Total diagnosed prevalent cases of Acid Sphingomyelinase Deficiency (ASMD) and Total treated cases of Acid Sphingomyelinase Deficiency (ASMD)] in Spain from 2021 to 2034.

Scope of the Report

• The Acid Sphingomyelinase Deficiency (ASMD) report covers a detailed overview explaining its causes, symptoms, and classification, pathophysiology, diagnosis, and treatment patterns.
• The Acid Sphingomyelinase Deficiency (ASMD) report and Model provide an overview of the risk factors and global trends of Acid Sphingomyelinase Deficiency (ASMD) in Spain.
• The report provides insight into the historical and forecasted patient pool of Acid Sphingomyelinase Deficiency (ASMD) in Spain.
• The report helps to recognize the growth opportunities in Spain concerning the patient population.
• The report assesses the disease risk and burden and highlights the unmet needs of Acid Sphingomyelinase Deficiency (ASMD).
• The report provides the segmentation of the Acid Sphingomyelinase Deficiency (ASMD) epidemiology by total diagnosed prevalent cases in Spain.
• The report provides the segmentation of the Acid Sphingomyelinase Deficiency (ASMD) epidemiology by total treated cases in Spain.

Report Highlights

• 10-Year Forecast of Acid Sphingomyelinase Deficiency (ASMD) epidemiology
• Spain Coverage
• Total Diagnosed prevalent Cases of Acid Sphingomyelinase Deficiency (ASMD)
• Total Treated Cases of Acid Sphingomyelinase Deficiency (ASMD)

KOL-Views

We interview KOL’s and SME's opinions through primary research to fill the data gaps and validate our secondary research. The opinion helps to 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.

Key Questions Answered

• What will be the growth opportunities in Spain concerning the patient population of Acid Sphingomyelinase Deficiency (ASMD)?
• What are the key findings of the Acid Sphingomyelinase Deficiency (ASMD) epidemiology across Spain and the highest number of patients during the study period (2021-2034)?
• What would be the total number of patients with Acid Sphingomyelinase Deficiency (ASMD) across Spain during the study period (2021-2034)?
• At what CAGR the patient population is expected to grow in Spain during the study period (2021-2034)?
• What are the various recent and upcoming events which are expected to improve the diagnosis of Acid Sphingomyelinase Deficiency (ASMD)?

Reasons to buy

The Acid Sphingomyelinase Deficiency (ASMD) Epidemiology report will allow the user to -

• Develop business strategies by understanding the trends shaping and driving the global Acid Sphingomyelinase Deficiency (ASMD) market
• Quantify patient populations in the global Acid Sphingomyelinase Deficiency (ASMD) market to improve product design, pricing, and launch plans
• Organize sales and marketing efforts by identifying the gender that presents the best opportunities for Acid Sphingomyelinase Deficiency (ASMD) therapeutics in each of the markets covered
• Understand the magnitude of Acid Sphingomyelinase Deficiency (ASMD) population by its age group-specificity
• The Acid Sphingomyelinase Deficiency (ASMD) epidemiology report and model were written and developed by Masters and Ph.D. level epidemiologists
• The Acid Sphingomyelinase Deficiency (ASMD) Epidemiology Model developed by DelveInsight is easy to navigate, interactive with dashboards, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports data presented in the report and showcases disease trends over a 10-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