According to DelveInsight’s analysis, the market for Niemann-Pick disease is anticipated to increase during the forecast period (2025–2034), owing to the rise in the launch of emerging therapies and healthcare spending globally.
New York, USA, June 02, 2025 (GLOBE NEWSWIRE) — Niemann-Pick Disease Market Insights: Key Trends and Developments Across Different Types of Niemann-Pick Disease | DelveInsight
According to DelveInsight’s analysis, the market for Niemann-Pick disease is anticipated to increase during the forecast period (2025–2034), owing to the rise in the launch of emerging therapies and healthcare spending globally.
Niemann-Pick disease is a type of lysosomal storage disorder resulting from a deficiency of acid sphingomyelinase (ASMD), an enzyme responsible for breaking down sphingomyelin into ceramide and phosphocholine. Due to this enzymatic deficiency, sphingomyelin and its precursor lipids accumulate within lysosomes, particularly in macrophages. These lipid-filled macrophages build up in organs such as the liver, spleen, lungs, and brain, leading to symptoms like hepatosplenomegaly, cytopenias, respiratory issues, and neurological complications.
The disease is categorized into four subtypes: types A, B, C, and E. Niemann-Pick disease follows an autosomal recessive inheritance pattern, meaning that both gene copies must carry mutations for the disease to manifest. While there is currently no definitive cure, therapeutic approaches have advanced significantly over the last decade, evolving from early use of statins to more recent treatments involving compounds like miglustat and cyclodextrin. Current management focuses on alleviating symptoms, including seizure control, sleep aids, physical therapy for motor function, and speech therapy to help maintain communication abilities.
Discover more about the Niemann-Pick disease market in detail @ Niemann-Pick Disease Market Report
DelveInsight has recently released epidemiology-based market reports focusing on Niemann-Pick disease, including Niemann-Pick Disease A/B and Niemann-Pick Disease C. These reports include a comprehensive understanding of current treatment practices, emerging drugs, market share of individual therapies, and current and forecasted market size from 2020 to 2034, segmented into 7MM [the United States, the EU4 (Germany, France, Italy, and Spain), the United Kingdom, and Japan].
Additionally, the reports feature an examination of prominent companies working with their lead candidates in different stages of clinical development. Let’s deep dive into the assessment of these Niemann-Pick disease type markets individually.
Niemann-Pick Disease Type A/B Market
Niemann-Pick disease types A and B are genetic disorders stemming from mutations in the SMPD1 gene. These conditions are collectively classified under acid sphingomyelinase deficiency. The mutations impair or eliminate the function of the enzyme sphingomyelinase, which is crucial for breaking down sphingomyelin, a lipid found in cells. When this enzyme is deficient or dysfunctional, sphingomyelin accumulates, disrupting cellular processes and ultimately causing cell damage and death.
In the United States, the incidence of Niemann-Pick types A and B has been on the rise, likely due to better awareness, improved diagnostic tools, and wider availability of genetic testing. These advances allow for earlier detection and more accurate diagnoses, which, along with expanded access to healthcare, have contributed to increased reporting of these rare conditions. Ongoing scientific research is shedding light on the genetic and environmental influences on ASMD, a vital step toward developing targeted treatments and supportive care strategies.
Currently, there is no cure for Niemann-Pick disease. Management is primarily supportive. For type A, there are no effective treatments, and most affected children experience severe neurological decline and early mortality due to infections or disease progression. In type B, bone marrow transplants have been attempted but with only modest outcomes. However, emerging therapies, such as enzyme replacement therapy (ERT) and gene therapy, hold promise, particularly for type B. Notably, dietary changes do not prevent lipid buildup in affected tissues.
A significant advancement came with the FDA approval of XENPOZYME (olipudase alfa-rpcp)—the first disease-specific therapy for non-CNS manifestations of ASMD in both children and adults. This ERT works by supplementing the deficient acid sphingomyelinase enzyme, which helps break down sphingomyelin. Without adequate ASM, sphingomyelin accumulates in organs like the lungs, liver, and spleen, leading to serious complications and potentially early death. Clinical evaluations of Xenpozyme in both pediatric and adult populations have shown effectiveness in addressing non-neurological symptoms of ASMD types A/B and B.
XENPOZYME has also received breakthrough designations from multiple global regulatory bodies, underscoring its potential impact. While organ transplants have shown limited benefit, newer approaches like ERT and gene therapy are more promising, as they address the underlying cause and may enhance both quality of life and prognosis.
Looking ahead, the Niemann-Pick type A/B landscape is expected to evolve significantly between 2025 and 2034, driven by increasing case identification and ongoing research and development. These advances could lead to transformative changes in treatment and care for patients living with these rare disorders.
Dive deeper for rich insights into the Niemann-Pick Disease Type A Market Trends and Analysis
Niemann-Pick Disease Type C Market
Niemann-Pick disease type C (NPC) is a rare, progressively debilitating genetic disorder characterized by the improper transport of cholesterol and other lipids within cells, leading to their accumulation in various tissues, including the brain. In 2023, the United States recorded the highest number of NPC cases among the 7MM. Among its genetic subtypes, NPC1 accounted for the majority of cases.
Managing NPC typically requires a multidisciplinary approach involving pediatricians, neurologists, ophthalmologists, pulmonologists, gastroenterologists, and other specialists to ensure comprehensive care. Support for the family, including psychosocial services and genetic counseling, is also crucial.
Treatment is largely symptom-specific. For instance, dysphagia (difficulty swallowing) should be regularly assessed due to the risk of aspiration. Early management may involve dietary modifications, such as softening food and thickening liquids, with speech therapists helping to improve swallowing. As the disease progresses, a gastrostomy tube might be necessary for nutrition and medication delivery.
NPC treatment includes both disease-specific and symptomatic therapies targeting neurological, visceral, and psychiatric symptoms. Two notable drugs currently available are AQNEURSA (levacetylleucine) and MIPLYFFA (arimoclomol), each aimed at alleviating neurological symptoms but with distinct eligibility requirements.
MIPLYFFA, approved by the FDA in September 2024, is the first oral treatment for NPC and is used alongside miglustat in patients aged two and older. It marks a major milestone in NPC therapy. An ongoing sub-study of the completed CT-ORZY-NPC-002 trial (NCT02612129) is investigating its safety in children under two. An EMA Marketing Authorization Application is expected in the second half of 2025.
AQNEURSA is currently the only FDA-approved monotherapy for neurological symptoms of NPC in both adults and children weighing at least 15 kg. Approval was based on results from the IB1001-301 Phase III trial (NCT05163288), which showed significant improvement on the functional SARA (fSARA) scale within 12 weeks. Patients treated with AQNEURSA experienced meaningful functional gains (mean difference of -0.4; p < 0.001), and the drug was generally well-tolerated, with common side effects including abdominal pain, dysphagia, respiratory infections, and vomiting.
A pivotal study on N-Acetyl-L-Leucine in NPC remains active. Additionally, AQNEURSA Cares provides eligible patients with financial and educational support. Research is also ongoing into AQNEURSA’s potential for other neurodegenerative and neurodevelopmental disorders, signaling IntraBio’s intent to expand its therapeutic portfolio.
Looking ahead, the NPC treatment landscape is expected to evolve with growing awareness and advancements in drug development. Emerging therapies such as Trappsol Cyclo (Cyclo Therapeutics), Nizubaglustat (Azafaros A.G.), and others are poised to reshape the future of NPC care.
For a comprehensive view of the NPC market, check out the Niemann-Pick Disease Type C Market Assessment
Related Reports
Niemann-Pick Disease Epidemiology
Niemann-Pick Disease Epidemiology Forecast – 2034 report delivers an in-depth understanding of the disease, historical and forecasted Niemann-Pick disease epidemiology in the 7MM, i.e., the United States, EU5 (Germany, Spain, Italy, France, and the United Kingdom), and Japan.
Niemann-Pick Disease Pipeline
Niemann-Pick Disease Pipeline Insight – 2024 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Niemann-Pick disease companies, including Cyclo Therapeutics, Azafaros, IntraBio, among others.
Niemann-Pick Disease Type A Pipeline
Niemann-Pick Disease Type A Pipeline Insight – 2024 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Niemann-Pick disease type A companies, including Mandos LLC, Cyclo Therapeutics, Orphazyme, IntraBio Inc, Synaptogenix, among others.
Niemann-Pick Disease Type C Pipeline
Niemann-Pick Disease Type C Pipeline Insight – 2024 report provides comprehensive insights about the pipeline landscape, pipeline drug profiles, including clinical and non-clinical stage products, and the key Niemann-Pick disease type C companies, including Zevra Therapeutics, Inc, Azafaros, Cyclo Therapeutics, IntraBio, SOM Biotech, ENDECE, among others.
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