Acid Sphingomyelinase Deficiency Market

• In 2023, the acid sphingomyelinase deficiency market size was valued around USD 120 million. The US and Europe dominated this market, together contributing over 90% of the total share.
• Acid sphingomyelinase deficiency, previously classified as Niemann-Pick disease types A, A/B, and B, represents a rare and progressively debilitating genetic disorder associated with high morbidity and mortality rates.
• The estimated prevalence of acid sphingomyelinase deficiency is approximately 2,000 patients in the United States, Europe (EU4 and the UK), and Japan.
• In the United States, the Acid sphingomyelinase deficiency patient population is estimated to be under 200, with pediatric cases constituting roughly two-thirds of this demographic.
• The acid sphingomyelinase deficiency disease market is projected to expand significantly, primarily fueled by the introduction of enzyme replacement therapy.
• In 2022, after securing regulatory approvals in Japan and Europe, Sanofi's XENPOZYME received FDA approval as the first enzyme replacement therapy for treating non-CNS manifestations of acid sphingomyelinase deficiency in both children and adults.
• In 2023, the United States contributed to about 60% of XENPOZYME's global sales, highlighting its dominant market presence and the strong demand within the US for this therapy.
• Lack of patients in acid sphingomyelinase deficiency clinical trials, high cost of drug development, and other factors are the major barriers to the Acid sphingomyelinase deficiency market.
• Limited pipeline activity in the acid sphingomyelinase deficiency field is evident, likely due to the disorder's rarity, a lack of recent epidemiological data, and significant knowledge gaps.

DelveInsight’s "Acid sphingomyelinase deficiency Market Insight, Epidemiology, and Market Forecast – 2034" report delivers an in-depth understanding of the acid sphingomyelinase deficiency historical and forecasted epidemiology as well as the acid sphingomyelinase deficiency market trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

The Acid sphingomyelinase deficiency therapeutics market report offers an in-depth analysis of current treatment practices, market share of individual therapies, and the projected acid sphingomyelinase deficiency market size from 2020 to 2034, segmented across seven major markets. Additionally, the report examines treatment algorithms and unmet medical needs, identifying key opportunities and assessing the market's underlying potential.

Acid Sphingomyelinase Deficiency Treatment Market

Acid Sphingomyelinase Deficiency Overview

Acid sphingomyelinase deficiency, formerly recognized as Niemann-Pick disease types A, A/B, and B, is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene, leading to a deficiency in acid sphingomyelinase. This enzyme deficiency results in the accumulation of sphingomyelin within cells, primarily affecting the mononuclear phagocytic system. The liver, spleen, lungs, nervous system, and skeletal system are the most impacted organs.

Acid Sphingomyelinase Deficiency Diagnosis

Acid sphingomyelinase deficiency diagnosis begins with a clinical evaluation, identifying symptoms based on type—severe Type A with early neurodegeneration and hepatosplenomegaly, or milder Type B with lung and bone involvement but minimal neurological effects. Diagnosis is confirmed through an enzyme assay measuring acid sphingomyelinase activity in blood or skin cells, supported by liver function and lipid profile tests. Genetic testing of the SMPD1 gene identifies specific mutations, enabling carrier testing and prenatal diagnosis. Imaging studies assess organ involvement, while biopsies are rarely needed. Differential diagnosis excludes similar lysosomal disorders like Gaucher disease. Although newborn screening for acid sphingomyelinase deficiency is not yet routine, ongoing research may soon enable earlier detection and improved outcomes. 

Further details related to diagnosis will be provided in the report…

Acid Sphingomyelinase Deficiency Treatment

Historically, ASMD treatment has been supportive, focusing on symptom management and improving quality of life through regular monitoring and addressing complications like respiratory issues and organ enlargement. The recent development of XENPOZYME (olipudase alfa), a recombinant form of the acid sphingomyelinase enzyme, marks a significant advancement. This therapy aims to reduce sphingomyelin buildup and prevent organ damage, with promising results in clinical trials and approval in the US, Europe, and Japan. Ongoing research into gene therapy, though still experimental, offers potential for long-term treatment or even a cure. Effective acid sphingomyelinase deficiency management typically involves a multidisciplinary team, including geneticists, neurologists, pulmonologists, and other specialists, to address the disease’s diverse symptoms and complications.

Further details related to treatment will be provided in the report…

Acid Sphingomyelinase Deficiency Epidemiology

The acid sphingomyelinase deficiency epidemiology chapter in the acid sphingomyelinase deficiency market report provides historical as well as forecasted epidemiology segmented by the Total Diagnosed Cases of Acid Sphingomyelinase Deficiency, and Total Treated Cases of Acid Sphingomyelinase Deficiency in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2020 to 2034.

• The global acid sphingomyelinase deficiency incidence is estimated to range from 0.4 to 0.6 cases per 100,000 newborns. These figures are likely underestimated, suggesting that the actual incidence may be higher.
• Acid sphingomyelinase deficiency impacts both males and females equally, showing no significant gender disparity in its prevalence.
• Patients with Niemann-Pick disease type A disease develop symptoms as early as age 3 months. Niemann-Pick disease type B has a variable age of presentation but frequently appears early in childhood, when hepatosplenomegaly is detected and symptoms of lung involvement may occur.

Recent Developments in Acid Sphingomyelinase Deficiency Clinical Trials

• On November 13, 2024, ClearPoint Neuro, Inc., a global therapy-enabling platform company, announced that the U.S. FDA granted marketing authorization for its SmartFlow Neuro Cannula through the De Novo pathway. This cannula is designed for the intraputaminal administration of PTC Therapeutics' gene therapy, KEBILIDI™ (eladocagene exuparvovec-tneq), for the treatment of aromatic L-amino acid decarboxylase (AADC) deficiency. This marks the first-ever FDA approval of a device used to deliver gene therapy directly to specific regions of the brain.

Acid Sphingomyelinase Deficiency Drug Chapters

The Acid Sphingomyelinase Deficiency drugs market is growing, driven by innovative therapies targeting this rare genetic lipid storage disorder. The drug chapter segment of the acid sphingomyelinase deficiency drugs market report encloses a detailed analysis of the approved drug. The drug chapter also helps understand the acid sphingomyelinase deficiency clinical trial details, expressive pharmacological action, agreements and collaborations, and the latest news and press releases.

Explore the latest insights on Acid Sphingomyelinase Deficiency pipeline in 2025. Stay ahead with cutting-edge treatment developments!

Acid Sphingomyelinase Deficiency Approved Drug

XENPOZYME (olipudase alfa): Sanofi

XENPOZYME, a hydrolytic lysosomal sphingomyelin-specific enzyme replacement therapy, is designed to replace deficient or defective acid sphingomyelinase (ASM), an enzyme that allows for the breakdown of the lipid sphingomyelin. In individuals with acid sphingomyelinase deficiency, the deficiency in the ASM enzyme leads to sphingomyelin accumulation in various tissues. XENPOZYME is not expected to cross the blood-brain barrier or modulate CNS manifestations of acid sphingomyelinase deficiency. XENPOZYME has not been studied in patients with acid sphingomyelinase deficiency type A.

XENPOZYME is adminstered intravenously every two weeks, and its administration requires a dose escalation phase followed by a maintenance phase.

In August 2022, the US FDA approved XENPOZYME as first disease-specific treatment for acid sphingomyelinase deficiency. In the US, XENPOZYME received Breakthrough Therapy designation (BTD), which expedites the development and review of drugs intended to treat serious or life-threatening diseases and conditions. The FDA evaluated XENPOZYME under Priority Review, which is reserved for medicines that represent potentially significant improvements in efficacy or safety in treating serious conditions.. In March 2022, XENPOZYME was approved in Japan under the SAKIGAKE (or “pioneer”) designation, marking the first approval for olipudase alfa anywhere in the world. In June 2022, the European Commission (EC) approved XENPOZYME for use in Europe.

Detailed therapy assessment will be provided in the final report.

Acid sphingomyelinase deficiency Drug Class Insight

Enzyme replacement therapy (ERT) for acid sphingomyelinase deficiency is a pivotal treatment that restores deficient sphingomyelinase enzyme activity, thereby mitigating the accumulation of sphingomyelin and alleviating disease symptoms. Administered via intravenous infusion, ERT has been shown to reduce hepatosplenomegaly, improve hematological parameters, and stabilize neurological functions. While effective, ERT requires ongoing administration and is associated with potential side effects such as infusion reactions and allergic responses. The current Acid sphingomyelinase deficiency market includes FDA-approved therapies like olipudase alfa, and research continues to refine treatment protocols and explore combination strategies to enhance patient outcomes and manage long-term treatment challenges.

Detailed drug class insight assessment will be provided in the final report.

Acid Sphingomyelinase Deficiency Market Outlook

The Acid sphingomyelinase deficiency therapeutics market remains in its early stages, with significant unmet needs and ongoing research efforts. The rarity of the disease and the high costs associated with drug development pose challenges, but the development of novel therapies and increasing awareness offer promising opportunities for addressing this complex condition. Continued investment in research and development, along with strategic collaborations, will be key to advancing treatment options and improving patient outcomes.

Detailed market assessment will be provided in the final report.

Key Findings

• The introduction of new and effective therapies, including enzyme replacement therapies, is a significant driver of Acid sphingomyelinase deficiency market growth. Enhanced awareness among healthcare professionals and the public is leading to more frequent diagnoses and treatment.
• In 2023, the US represented the largest Acid sphingomyelinase deficiency market, with a market size exceeding USD 55 million. This substantial Acid sphingomyelinase deficiency market size is reflective of the high prevalence of acid sphingomyelinase deficiency in the US, along with a well-established infrastructure for rare disease diagnosis and treatment. The Acid sphingomyelinase deficiency market is anticipated to grow significantly from 2024 to 2034.
• In Europe, the Acid sphingomyelinase deficiency market size was estimated to be nearly USD 35 million in 2023. XENPOZYME's presence in Europe has significantly impacted the Acid sphingomyelinase deficiency market, as it represents a crucial therapeutic option for patients.
• The challenges such as high treatment costs and the rarity of the disease will need to be addressed to fully realize the Acid sphingomyelinase deficiency market's potential.

KOL- Views on Acid sphingomyelinase deficiency

To keep up with current Acid sphingomyelinase deficiency market trends, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research. Industry Experts contacted for insights on the acid sphingomyelinase deficiency evolving treatment landscape, patient reliance on conventional therapies, patient therapy switching acceptability, and drug uptake, along with challenges related to accessibility, including pediatric neurologists, geneticists, pediatric endocrinologists, hematologists and others.

DelveInsight’s analysts connected with 10+ KOLs to gather insights; however, interviews were conducted with 5+ KOLs in the 7MM. Centers such as the Boston Children's Hospital, Centers for Disease Control and Prevention, National Institute of Neurological Disorders and Stroke (NINDS), The Children's Hospital of Philadelphia etc., were contacted. Their opinion helps understand and validate current and emerging therapy treatment patterns or acid sphingomyelinase deficiency market trends. This will support the clients in potential upcoming novel treatments by identifying the overall scenario of the Acid sphingomyelinase deficiency market and the unmet needs.

Qualitative Analysis

We perform Qualitative and market Intelligence analysis using various approaches, such as SWOT. In the SWOT analysis, strengths, weaknesses, opportunities, and threats in terms of disease diagnosis, patient awareness, patient burden, competitive landscape, cost-effectiveness, and geographical accessibility of therapies are provided. These pointers are based on the Analyst’s discretion and assessment of the patient burden, cost analysis, and existing and evolving treatment landscape.

Scope of the Acid Sphingomyelinase Deficiency Market Report

• The Acid sphingomyelinase deficiency market report covers a segment of key events, an executive summary, and a descriptive overview of acid sphingomyelinase deficiency, explaining its causes, signs, symptoms, pathogenesis, and currently used therapies.
• Comprehensive insight into the epidemiology segments and forecasts, disease progression, and treatment guidelines has been provided.
• A detailed review of the ASMD market, historical and forecasted market size, market share by therapies, detailed assumptions, and rationale behind our approach is included in the Acid sphingomyelinase deficiency market report, covering the 7MM drug outreach.
• The Acid sphingomyelinase deficiency market report provides an edge while developing business strategies by understanding trends through SWOT analysis and KOL views, patient journey, and treatment preferences that help shape and drive the ASMD market.

Acid Sphingomyelinase Deficiency Market Report Insights

• ASMD Patient Population
• ASMD Therapeutic Approaches
• ASMD Treatment Options
• ASMD  Pipeline Analysis
• ASMD  Market Size
• Acid sphingomyelinase deficiency Market Trends
• Existing and Future Acid sphingomyelinase deficiency Market Opportunity 

Acid Sphingomyelinase Deficiency Market Report Key Strengths

• Eleven Years Forecast
• The 7MM Coverage 
• Acid Sphingomyelinase Deficiency Epidemiology Segmentation
• Key Acid sphingomyelinase deficiency Market Forecast Assumptions

Acid Sphingomyelinase Deficiency Market Report Assessment

• Current ASMD Treatment Practices
• ASMD Unmet Needs
• ASMD Market Attractiveness
• Qualitative Analysis (SWOT)
• ASMD Market Drivers
• ASMD Market Barriers

FAQs

• What was the ASMD market size, the market size by therapies, market share (%) distribution in 2020, and what would it look like by 2034? What are the contributing factors for this growth?
• What can be the future treatment paradigm for acid sphingomyelinase deficiency?
• What are the disease risks, burdens, and unmet needs of acid sphingomyelinase deficiency? What will be the growth opportunities across the 7MM concerning the patient population with acid sphingomyelinase deficiency?
• What are the current options for the treatment of acid sphingomyelinase deficiency? What are the current guidelines for treating acid sphingomyelinase deficiency in the 7MM?
• What are the recent novel therapies, targets, mechanisms of action, and technologies being developed to overcome the limitations of existing ASMD therapies? 
• What is the patient share in acid sphingomyelinase deficiency?

Reasons to Buy Acid Sphingomyelinase Deficiency Market Forecast Report

• The Acid sphingomyelinase deficiency market report will help develop business strategies by understanding the latest trends and changing treatment dynamics driving the acid sphingomyelinase deficiency market.
• Insights on patient burden/Acid sphingomyelinase deficiency prevalence, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• Understand the existing Acid sphingomyelinase deficiency market opportunities in varying geographies and the growth potential over the coming years.
• Identifying strong Acid sphingomyelinase deficiency companies in the Acid sphingomyelinase deficiency market will help devise strategies to help get ahead of competitors.
• To understand Key Opinion Leaders’ perspectives around the accessibility, acceptability, and compliance-related challenges of existing treatment to overcome barriers in the future.
• Detailed insights on the unmet needs of the existing Acid sphingomyelinase deficiency market so that the upcoming players can strengthen their development and launch strategy.