acid sphingomyelinase deficiency asmd market insight
DelveInsight’s ‘Acid Sphingomyelinase Deficiency (ASMD) - Market Insights, Epidemiology, and Market Forecast—2030’ report delivers an in-depth understanding of the Acid Sphingomyelinase Deficiency (ASMD), historical and forecasted epidemiology as well as the Acid Sphingomyelinase Deficiency (ASMD) market trends in Spain.
The Acid Sphingomyelinase Deficiency (ASMD) market report provides current treatment practices, emerging drugs, Acid Sphingomyelinase Deficiency (ASMD) market share of the individual therapies, current and forecasted Acid Sphingomyelinase Deficiency (ASMD) market size from 2018 to 2030 segmented by Spain. The Report also covers current Acid Sphingomyelinase Deficiency (ASMD) treatment practice/algorithm, market drivers, market barriers, and unmet medical needs to curate the best of the opportunities and assesses the underlying potential of the market.
Geography Covered
- Spain
Study Period: 2018–2030
Acid Sphingomyelinase Deficiency (ASMD): Disease Understanding and Treatment Algorithm
Acid Sphingomyelinase Deficiency (ASMD) Overview
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.
Acid Sphingomyelinase Deficiency (ASMD) Treatment
There are currently no curative therapies available for ASMD. Some experimental approaches, including bone marrow transplantation, total lung lavage, and amniotic cell transplant, have been attempted but do not have a favorable benefit/risk ratio owing to their uncertain impact on short- and long-term disease outcomes and considerable risk of complications. Splenectomy may be required in cases of extensive spleen necrosis with loss of function or rupture. However, it is generally not recommended as it may exacerbate the pulmonary disease. Thus, the management of patients with ASMD is limited to supportive care and palliation, which requires a multidisciplinary approach.
No treatment approach has been reported to affect low bone density positively, and there are no effective treatments to reduce hepatosplenomegaly. Because of low platelet count and risk of hematoma or bleeding, sports involving strong physical contacts, such as soccer and wrestling, must be avoided. Many patients rarely become anemic enough to require transfusions. However, patients with clinically significant cytopenia and a history of excessive bleeding may require multiple blood transfusions.
Enzyme replacement therapy (ERT) with recombinant human ASM is a potentially disease-modifying therapeutic approach currently in clinical development for the treatment of ASMD. ERT represents a known mechanism of action that has been used successfully in other lysosomal storage disorders. Results of a 26-weeks phase 1b study in five adult patients with NPD B established initial proof of concept for the safety and efficacy of recombinant human ASM in this patient group, including reductions in sphingomyelin storage seen in liver biopsies, spleen and liver volumes, and serum chitotriosidase activity, and improvements in infiltrative lung disease, lipid profiles, platelet counts and QoL assessments.
Acid Sphingomyelinase Deficiency (ASMD) Epidemiology
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 total diagnosed prevalent cases of Acid Sphingomyelinase Deficiency (ASMD) was 38 cases in Spain which are expected to grow during the study period, i.e., 2018–2030.
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 2018 to 2030.
Acid Sphingomyelinase Deficiency (ASMD) Drug Chapters
The drug chapter segment of the Acid Sphingomyelinase Deficiency (ASMD) report encloses the detailed analysis of Acid Sphingomyelinase Deficiency (ASMD) late stage (Phase-III and Phase-II) pipeline drugs. It also helps to understand the Acid Sphingomyelinase Deficiency (ASMD) clinical trial details, expressive pharmacological action, agreements and collaborations, approval and patent details, advantages and disadvantages of each included drug, and the latest news and press releases.
Acid Sphingomyelinase Deficiency (ASMD) Emerging Drugs
Olipudase alfa (Sanofi)
Olipudase alfa, developed by Sanofi, is an investigational enzyme replacement therapy designed to replace deficient or defective enzyme acid sphingomyelinase, an enzyme that is found in special compartments within cells called lysosomes and is required to break down lipids called sphingomyelin. Olipudase alfa is currently being investigated to treat non-CNS manifestations of ASMD.
Note: Detailed emerging therapies assessment will be provided in the final report.
Acid Sphingomyelinase Deficiency (ASMD) Market Outlook
ASMD, a rare lysosomal storage disorder caused by mutations in the SMPD1 gene, results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. It affects both adults as well as children. There exists no approved therapy in the current scenario of the ASMD market. One of the major challenges associated with ASMD is the heterogeneous nature of the symptoms presented by the patients. It is important to note that all patients do not represent the same set of symptoms. Thus ASMD treatment is multidisciplinary, nonpharmacological, and requires the efforts of a team of specialists, i.e. pediatricians, neurologists, hepatologists, ophthalmologists, and other health care professionals. The current treatment paradigm is based upon the type of ASMD (Type A, Type A/B, and Type B) the patient has and is symptom-specific.
The recommended therapies in patients with type A disease form include physical and occupational therapy and periodic nutritional assessment. It is essential for children with the type A form to be ensured proper nutritional support; this is generally achieved by implanting a feeding (gastronomy) tube. With this procedure, a thin tube is placed into the stomach via a small incision in the abdomen, allowing for direct intake of food and/or medicine. Patients exhibiting sleep issues are generally recommended with nocturnal sedatives.
For patients exhibiting hepatosplenomegaly, splenomegaly, metabolic defects, low blood counts, hematopoietic stem cell transplantation (HSCT) is often prescribed. HSCTs help in reducing the increased volume of the liver as well as the spleen.
Key Findings
The Acid Sphingomyelinase Deficiency (ASMD) market size in Spain is expected to change during the study period 2018–2030. The therapeutic market of Acid Sphingomyelinase Deficiency (ASMD) in Spain is expected to increase during the study period (2018–2030) with a CAGR of 33.8%.
Acid Sphingomyelinase Deficiency (ASMD) Pipeline Development Activities
The drugs which are in pipeline include:
- Olipudase alfa (Sanofi)
Note: Detailed emerging therapies assessment will be provided in the final report.
Analyst Commentary
- There is no approved therapy in the current market space of ASMD – one of the significant challenges and concerns of the patients – as hardly a few companies have inclined their attention towards this specific syndrome. Therefore, this shared concern among patients and several government incentives opens the window of opportunity for pharmaceutical companies looking to capitalize on this market segment.
- The patients enrolled in the clinical trials are very few since the rarity of the disease. Minimal patients involved in a study would fail to provide better clarity on the mechanistic approach of the disease like how it spreads across the multiple organs, conversion of patients from attenuated to severe phenotype, etc.
Access and Reimbursement Scenario in Acid Sphingomyelinase Deficiency (ASMD) Therapies
Since ASMD is a rare disease, there are several challenges and benefits associated with the rare disease market. It represents an attractive global market for the pharmaceutical industry. However, certain hurdles are often faced by patients, particularly in market access and reimbursement. The level of access to RD therapies varies greatly across the world, and the reimbursement of Rare Disease therapies are also limited due to lack of supporting policies and funding, challenges of high prices, and lack of specific approaches evaluating rare disease drugs because of limited evidence and payers’ concerns about budget impact. In Europe, orphan designations and market authorization are done at the European level; however, access to these drugs is dependent on the member state policies.
The price and reimbursement decisions are one of the major challenges in Spain. Following European Commission (EC) approval, national marketing authorization is granted by the Spanish Medicines Agency (AEMPS). The P&R process in Spain starts with the generation of the Therapeutic Positioning Report (TPR), issued by the AEMPS, to establish a clinical and value positioning recommendation to the General Pharmacy Directorate within the Ministry of Health. The General Pharmacy Directorate releases a proposal to the Inter-ministerial Pricing Commission, which decides the price and reimbursement of the new drug. Spanish reimbursement evaluation criteria of ODs are the same as for any other innovative drug and are defined by law in the Royal Decree: severity of the disease, unmet needs of specific populations, therapeutic and social drug value, incremental clinical benefit considering cost-effectiveness, budget impact, the existence of alternative treatment options for the indication and degree of innovation.
Note: Detailed HTA assessment will be provided in the final report.
KOL-Views
To keep up with current market trends, we take KOLs and SMEs ’ opinions working in the Acid Sphingomyelinase Deficiency (ASMD) domain through primary research to fill the data gaps and validate our secondary research. Their opinion helps to understand and validate current and emerging therapies treatment patterns or Acid Sphingomyelinase Deficiency (ASMD) market trends. This will support the clients in potential upcoming novel treatment by identifying the overall scenario of the market and the unmet needs.
Competitive Intelligence Analysis
We perform Competitively and Market Intelligence analysis of the Acid Sphingomyelinase Deficiency (ASMD) Market by using various Competitive Intelligence tools that includes – SWOT analysis, PESTLE analysis, Porter’s five forces, BCG Matrix, Market entry strategies, etc. The inclusion of the analysis entirely depends upon the data availability.
Scope of the Report
- The report covers the descriptive overview of Acid Sphingomyelinase Deficiency (ASMD), explaining its causes, signs and symptoms, pathophysiology, and currently available therapies.
- Comprehensive insight has been provided into the Acid Sphingomyelinase Deficiency (ASMD) epidemiology and treatment in Spain.
- Additionally, an all-inclusive account of both the current and emerging therapies for Acid Sphingomyelinase Deficiency (ASMD) is provided, along with the assessment of new therapies, which will have an impact on the current treatment landscape.
- A detailed review of the Acid Sphingomyelinase Deficiency (ASMD) market; historical and forecasted is included in the report, covering drug outreach in Spain.
- The report provides an edge while developing business strategies, by understanding trends shaping and driving the global Acid Sphingomyelinase Deficiency (ASMD) market.
Report Highlights
- The companies and academics are working to assess challenges and seek opportunities that could influence Acid Sphingomyelinase Deficiency (ASMD) R&D. The therapies under development are focused on novel approaches to treat/improve the disease condition.
- Currently, only one company is involved in developing therapies for Acid Sphingomyelinase Deficiency (ASMD). The launch of this emerging therapies will significantly impact the Acid Sphingomyelinase Deficiency (ASMD) market.
- A better understanding of disease pathogenesis will also contribute to the development of novel therapeutics for Acid Sphingomyelinase Deficiency (ASMD).
- Our in-depth analysis of the pipeline assets across different stages of development (Phase III and Phase II), different emerging trends, and comparative analysis of pipeline products with detailed clinical profiles, key cross-competition, launch date along with product development activities will support the clients in the decision-making process regarding their therapeutic portfolio by identifying the overall scenario of the research and development activities.
Acid Sphingomyelinase Deficiency (ASMD) Report Insights
- Patient Population
- Therapeutic Approaches
- Acid Sphingomyelinase Deficiency (ASMD) Pipeline Analysis
- Acid Sphingomyelinase Deficiency (ASMD) Market Size and Trends
- Market Opportunities
- Impact of upcoming Therapies
Acid Sphingomyelinase Deficiency (ASMD) Report Key Strengths
- 10 Years Forecast
- Spain Coverage
- Acid Sphingomyelinase Deficiency (ASMD) Epidemiology Segmentation
- Key Cross Competition
- Highly Analyzed Market
- Drugs Uptake
Acid Sphingomyelinase Deficiency (ASMD) Report Assessment
- SWOT Analysis
- Current Treatment Practices
- Unmet Needs
- Pipeline Product Profiles
- Conjoint Analysis
- Market Attractiveness
- Market Drivers and Barriers
Key Questions
Market Insights:
- What was the Acid Sphingomyelinase Deficiency (ASMD) Market share (%) distribution in 2018 and how it would look like in 2030?
- What would be the Acid Sphingomyelinase Deficiency (ASMD) total market size as well as market size by therapies across Spain during the study period (2018–2030)?
- What are the key findings of the market across Spain and apart from Spain which country will have the largest Acid Sphingomyelinase Deficiency (ASMD) market size during the study period (2018–2030)?
- At what CAGR, the Acid Sphingomyelinase Deficiency (ASMD) market is expected to grow in Spain during the study period (2018–2030)?
- What would be the Acid Sphingomyelinase Deficiency (ASMD) market outlook across Spain during the study period (2018–2030)?
- What would be the Acid Sphingomyelinase Deficiency (ASMD) market growth till 2030 and what will be the resultant market size in the year 2030?
- How would the market drivers, barriers, and future opportunities affect the market dynamics and subsequent analysis of the associated trends?
- Acid Sphingomyelinase Deficiency (ASMD) patient types/pool where unmet need is more and whether emerging therapies will be able to address the residual unmet need?
- How emerging therapies are performing on the parameters like efficacy, safety, route of administration (RoA), treatment duration, and frequencies based on their clinical trial results?
- Among the emerging therapies, what are the potential therapies which are expected to disrupt the Acid Sphingomyelinase Deficiency (ASMD) market?
Epidemiology Insights:
- What are the disease risks, burdens, and unmet needs of Acid Sphingomyelinase Deficiency (ASMD)?
- What is the historical Acid Sphingomyelinase Deficiency (ASMD) patient pool in Spain?
- What would be the forecasted patient pool of Acid Sphingomyelinase Deficiency (ASMD) in Spain?
- What will be the growth opportunities in Spain concerning the patient population about Acid Sphingomyelinase Deficiency (ASMD)?
- At what CAGR the population is expected to grow in Spain during the study period (2018–2030)?
- What are the various recent and upcoming events which are expected to improve the diagnosis of Acid Sphingomyelinase Deficiency (ASMD)?
Current Treatment Scenario and Emerging Therapies:
- What are the current options for the treatment of Acid Sphingomyelinase Deficiency (ASMD)?
- What are the current treatment guidelines for the treatment of Acid Sphingomyelinase Deficiency (ASMD) in Spain?
- How many companies are developing therapies for the treatment of Acid Sphingomyelinase Deficiency (ASMD)?
- How many therapies are developed by each company for the treatment of Acid Sphingomyelinase Deficiency (ASMD)?
- How many emerging therapies are in the mid-stage and late stages of development for the treatment of Acid Sphingomyelinase Deficiency (ASMD)?
- What are the key collaborations (Industry–Industry, Industry-Academia), Mergers and acquisitions, licensing activities related to the Acid Sphingomyelinase Deficiency (ASMD) therapies?
- What are the recent novel therapies, targets, mechanisms of action, and technologies developed to overcome the limitation of existing therapies?
- What are the clinical studies going on for Acid Sphingomyelinase Deficiency (ASMD) and their status?
- What are the key designations that have been granted for the emerging therapies for Acid Sphingomyelinase Deficiency (ASMD)?
- What is the global historical and forecasted market of Acid Sphingomyelinase Deficiency (ASMD)?
Reasons to buy
- The report will help in developing business strategies by understanding trends shaping and driving the Acid Sphingomyelinase Deficiency (ASMD) market.
- To understand the future market competition in the Acid Sphingomyelinase Deficiency (ASMD) market and an Insightful review of the key market drivers and barriers.
- Organize sales and marketing efforts by identifying the best opportunities for Acid Sphingomyelinase Deficiency (ASMD) in Spain.
- Identification of strong upcoming players in the market will help in devising strategies that will help in getting ahead of competitors.
- Organize sales and marketing efforts by identifying the best opportunities for the Acid Sphingomyelinase Deficiency (ASMD) market.
- To understand the future market competition in the Acid Sphingomyelinase Deficiency (ASMD) market.
