Niemann-Pick Disease Type C - Market Insight, Epidemiology And Market Forecast - 2034

Key Highlights:

• Niemann-Pick disease type C (NPC) is an irreversible, and chronically debilitating lysosomal storage disorder characterized by defects in intracellular cholesterol transport, causing accumulation of cholesterol and glycosphingolipids in organs and the nervous system, and leading to visceral, neurological, and psychiatric symptoms.
• Diagnosis of NPC typically involves blood testing, neuroimaging, genetic analysis, and sometimes a skin biopsy. Clinical features such as progressive vertical supranuclear gaze palsy (VSGP), gelastic cataplexy, ataxia, dystonia, and dementia are highly indicative of the disease.
• In 2024, the total diagnosed prevalent cases of Niemann-Pick Disease Type C (NPC) were approximately 1000 in the 7MM, highlighting its ultra-rare nature.
• As per DelveInsight analysis, the US showed the highest number of prevalent cases of NPC, accounting for approximately 40% of the total prevalent cases of NPC in the 7MM in 2024.
• In 2024, the FDA approved MIPLYFFA (arimoclomol, in combination with miglustat) and AQNEURSA (levacetylleucine, for patients weighing =15 kg), expanding treatment options for NPC beyond miglustat, the first therapy shown to slow neurological progression.
• Symptom management may include therapies for dysphagia, seizures, cataplexy, movement disorders, and sleep issues, with supportive care such as rehabilitation and family resources. Low-fat or low-cholesterol diets do not alter neurological progression.
• In 2024, the US dominated the NPC market among the 7MM, capturing approximately 60% of the total 7MM market share.
• In 2024, EU4 and the UK together represented nearly 25% of the total NPC market across the 7MM, highlighting their significant role as key contributors to overall market demand despite a smaller patient base compared to the US.
• In July 2025, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion recommending marketing authorisation for AQNEURSA to treat neurological manifestations of NPC.
• In July 2025, Azafaros announced the initiation of two global Phase III studies with Nizubaglustat in NPC and GM1/GM2 gangliosidoses, respectively.
• The recent approvals of AQNEURSA and MIPLYFFA mark a milestone in Niemann-Pick disease type C, expanding treatment beyond symptomatic care with targeted therapies that address neurological progression.
• The NPC therapeutic pipeline includes Trappsol Cyclo by Cyclo Therapeutics, oral small-molecule candidate nizubaglustat (AZ-3102) by Azafaros, and early-stage candidate Adrabetadex (VTS-270), reflecting a diversified approach targeting distinct disease mechanisms.

Report Summary

• The report offers extensive knowledge regarding the epidemiology segments and predictions, presenting a deep understanding of the potential future growth in diagnosis rates, disease progression, and treatment guidelines. It provides comprehensive insights into these aspects, enabling a thorough assessment of the subject matter.
• Additionally, an all-inclusive account of the current management techniques and emerging therapies and the elaborative profiles of late-stage (Phase III and Phase II) and prominent therapies that would impact the current treatment landscape and result in an overall market shift has been provided in the report.
• The report also encompasses a comprehensive analysis of the Niemann-Pick Disease Type C (NPC) market, providing an in-depth examination of its historical and projected market size (2020-2034). It also includes the market share of therapies, detailed assumptions, and the underlying rationale for our methodology. The report also includes drug outreach coverage in the 7MM region.
• The report includes qualitative insights that provide an edge while developing business strategies by understanding trends through SWOT analysis and expert insights/KOL views, including experts from various hospitals and prominent universities, patient journey, and treatment preferences that help shape and drive the 7MM Niemann-Pick Disease Type C (NPC) market.

Niemann-Pick Disease Type C (NPC) Drug Chapters

The section dedicated to drugs in the Niemann-Pick Disease Type C (NPC) report provides an in-depth evaluation of late-stage pipeline drugs (Phase III and Phase II) related to NPC. The drug chapters section provides valuable information on various aspects related to clinical trials of NPC, such as the pharmacological mechanisms of the drugs involved, designations, approval status, patent information, and a comprehensive analysis of the pros and cons associated with each drug. Furthermore, it presents the most recent news updates and press releases on drugs targeting NPC.

Marketed Therapies

AQNEURSA (levacetylleucine): IntraBio

AQNEURSA (levacetylleucine), formerly IB1001, is indicated for the treatment of neurological manifestations of NPC in adults and pediatric patients weighing =15 kg. The active substance of AQNEURSA, levacetylleucine, is a modified leucine derivative that targets neurological dysfunction. Though its mechanism is not fully understood, nonclinical studies show it improves energy metabolism and ATP production in cerebellar cells.

In September 2024, IntraBio announced that the US Food and Drug Administration (FDA) has approved AQNEURSA (levacetylleucine) for the treatment of neurological manifestations of NPC in adults and pediatric patients weighing =15 kg. AQNEURSA is the only FDA-approved stand-alone therapy indicated for the treatment of NPC.

MIPLYFFA (arimoclomol): Zevra Therapeutics (Formerly Known as KemPharm)

MIPLYFFA (arimoclomol) is indicated for use in combination with miglustat for the treatment of neurological manifestations of NPC in adult and pediatric patients 2 years of age and older. MIPLYFFA increases the activation of the TFEB and TFE3, resulting in the upregulation of Coordinated Lysosomal Expression and Regulation (CLEAR) genes. MIPLYFFA has also been shown to reduce unesterified cholesterol in the lysosomes of human NPC fibroblasts.

In September 2024, the US FDA approved Zevra Therapeutics' MIPLYFFA (arimoclomol) capsules as the first therapy for NPC. The oral treatment is indicated, in combination with miglustat, for managing neurological manifestations of NPC in adult and pediatric patients aged two years and older.

Emerging Therapies

Trappsol Cyclo (Hydroxypropyl B-cyclodextrin): Cyclo Therapeutics

Trappsol Cyclo is a specialized formulation of hydroxypropyl B-cyclodextrin that has demonstrated promising results in several clinical studies for correcting cholesterol transport. Acting as a substitute for the faulty NPC1 protein, its cyclic structure helps move trapped cholesterol out of lysosomes, allowing it to be processed and cleared from cells. It is currently being investigated in clinical trials as a potential therapy for NPC, a rare, progressive, and life-threatening genetic disorder.

In February 2025, Cyclo Therapeutics presented preliminary data from the Phase III TransportNPC open-label sub-study at the 21st Annual WORLDSymposium 2025, showing that among NPC1 patients under 3 years old, 87% demonstrated stabilization or improvement on the CGI-C scale at 24 weeks and 86% at 48 weeks.

In March 2025, Rafael Holdings completed a merger with Cyclo Therapeutics following shareholder approvals.

Nizubaglustat: Azafaros

Nizubaglustat (formerly AZ-3102) is a small molecule, orally available and brain penetrant azasugar with a unique dual mode of action, developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 gangliosidoses and NPC.

Nizubaglustat modulates lipid metabolism, aiming to reduce the harmful accumulation of "waste" lipids in lysosomes. By addressing this underlying cellular dysfunction, nizubaglustat has the potential to serve as a disease-modifying therapy for NPC, offering convenient at-home treatment and improved quality of life for patients.

In July 2025, Azafaros announced the initiation of two global Phase III studies with Nizubaglustat in NPC and GM1/GM2 gangliosidoses, respectively.

Niemann-Pick Disease Type C (NPC) Market Outlook

During the forecast period (2025-2034), pipeline candidates such as Cyclo Therapeutics' Trappsol Cyclo, Azafaros' Nizubaglustat, and Mandos' Adrabetadex (VTS-270), and others are expected to drive the rise in Niemann-Pick Disease Type C (NPC) market size

• In 2024, the total market size of NPC in the 7MM was approximately USD 60 million, reflecting the challenges of an ultra-rare disease with limited treatment options.
• In 2024, Germany accounted for the largest share of the NPC market among the EU4 and the UK, followed by France, Italy, and the UK, highlighting regional disparities in diagnosis and treatment access.
• In 2024, Japan's NPC market size was approximately USD 10 million, reflecting its position as one of the smaller markets in the 7MM despite advanced healthcare infrastructure.

The Niemann-Pick Disease Type C (NPC) market is limited by few approved treatments and high unmet need. However, pipeline innovation and rising awareness are expected to drive modest growth and improve future therapeutic options. Even though it is too soon to comment on the above-mentioned promising candidate to enter the market during the forecast period (2025-2034), it is safe to assume that the future of this market is bright. Eventually, these drugs will create a significant difference in the landscape of Niemann-Pick Disease Type C (NPC) in the coming years. The treatment space is expected to experience a significant positive shift in the coming years owing to the improvement in healthcare spending worldwide.

Niemann-Pick Disease Type C (NPC) Understanding and Treatment

Niemann-Pick Disease Type C (NPC) Overview

Niemann-Pick disease type C (NPC) is a progressive, irreversible, and chronically debilitating lysosomal lipid storage disorder with visceral, neurological, and psychiatric manifestations. It results from defects in intracellular cholesterol trafficking, leading to accumulation of unesterified cholesterol and glycosphingolipids in neurovisceral tissues. Mutations in the NPC1 gene (most cases) or NPC2 gene disrupt coordinated cholesterol transport in late endosomes/lysosomes. NPC also causes a secondary reduction of ASM activity, linking it to other forms of Niemann-Pick disease.

NPC presents with highly variable onset and progression. Early signs may include hepatosplenomegaly or jaundice in infancy, while neurological symptoms typically emerge between ages 4-10, including seizures, ataxia, tremors, gaze palsy, dysarthria, and sudden falls. As the disease advances, patients may develop learning disabilities, psychiatric issues, or dementia, often progressing to loss of speech, swallowing difficulties requiring gastrostomy, and severe motor impairment. Generally, later onset of neurological symptoms correlates with slower disease progression.

Niemann-Pick Disease Type C (NPC) Diagnosis

Diagnosis of Niemann-Pick disease type C (NPC) relies on clinical suspicion based on characteristic visceral, neurological, and psychiatric symptoms, followed by confirmatory laboratory tests. Because many physicians have limited experience with NPC, diagnosis is often delayed. To address this, experts developed the NPC Suspicion Index Tool to guide recognition, though its clinical utility is still being refined. Key early indicators include ataxia (with or without neuropathy), vertical supranuclear gaze palsy (VSSP), dystonia, cognitive decline or dementia before age 40, unexplained developmental delays with hepatosplenomegaly, and psychiatric features such as schizophrenia-like symptoms or early-onset psychosis.

Diagnostic confirmation has shifted from traditional fibroblast-based methods (filipin staining and cholesterol esterification testing) to more advanced blood-based biomarkers (oxysterols, lysosphingolipids, bile acid metabolites) and molecular genetic testing of NPC1 and NPC2. These approaches now represent the standard for reliable and earlier diagnosis.

Niemann-Pick Disease Type C (NPC) Treatment

Treatment of NPC focuses on slowing disease progression, managing specific manifestations, and reducing neurological decline. Disease-specific therapies include substrate reduction with miglustat, the first approved treatment shown to slow progression, and newer FDA-approved options such as MIPLYFFA (arimoclomol) and AQNEURSA (levacetylleucine), which have expanded therapeutic choices. Other investigational approaches include sterol-binding drugs like cyclodextrins.

Symptomatic management remains central to patient care, addressing gastrointestinal, neurological, psychiatric, and respiratory complications. Interventions range from dietary modification, gastrostomy, and antidiarrheal agents to antiepileptics for seizures, antidepressants or stimulants for cataplexy, melatonin for insomnia, and physiotherapy for spasticity and mobility preservation. Psychiatric symptoms may require antipsychotics, mood stabilizers, or even electroconvulsive therapy, while pulmonary issues are managed with airway clearance, bronchodilation, and antibiotics when needed. Together, disease-specific and supportive therapies aim to delay progression, improve quality of life, and extend survival in NPC patients.

Niemann-Pick Disease Type C (NPC) Epidemiology

The NPC epidemiology chapter in the report provides historical as well as forecasted epidemiology segmented by prevalent cases, total diagnosed prevalent cases, age-specific cases, gender-specific cases, mutation-specific cases, and total treated cases of NPC in the United States, EU4 countries (Germany, France, Italy, Spain) and the United Kingdom, and Japan from 2020 to 2034.

• In 2024, the highest burden of NPC in the US was observed in the juvenile age group (6 to <15 years) with approximately 120 cases, followed by around 110 cases in the adolescent/adult-onset group (=15 years).
• In 2024, females represented about 55% of NPC cases in the US compared to 45% in males, suggesting a slight female predominance that may reflect underlying diagnostic trends rather than true biological differences.
• In 2024, within the EU4 and the UK, Germany accounted for the largest share of diagnosed NPC cases (25%), followed by the UK and France (20% each), while Spain had the lowest share at 15%.
• In 2024, within the EU4 and the UK, NPC1 accounted for approximately 95% of mutation-specific NPC cases, while NPC2 represented only about 5%.
• In 2024, Japan reported approximately 200 diagnosed NPC cases, reflecting both the ultra-rare nature of the disease and the challenges of timely identification.

KOL Views

To stay abreast of the latest trends in the market, we conduct primary research by seeking the opinions of Key Opinion Leaders (KOLs) and Subject Matter Experts (SMEs) who work in the relevant field. This helps us fill any gaps in data and validate our secondary research.

We have reached out to industry experts to gather insights on various aspects of Niemann-Pick Disease Type C (NPC), including the evolving treatment landscape, patients' reliance on conventional therapies, their acceptance of therapy switching, drug uptake, and challenges related to accessibility. The experts we contacted included medical/scientific writers, professors, and researchers from prestigious universities in the US, Europe, the UK, and Japan.

Our team of analysts at Delveinsight connected with more than 10 KOLs across the 7MM. We contacted institutions such as the University of Munich, the Tottori University Faculty of Medicine, and University of Rostock, etc., among others. By obtaining the opinions of these experts, we gained a better understanding of the current and emerging treatment patterns in the Niemann-Pick Disease Type C (NPC) market, which will assist our clients in analyzing the overall epidemiology and market scenario.

Qualitative Analysis

We perform Qualitative and Market Intelligence analysis using various approaches, such as SWOT analysis and Conjoint Analysis. 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.

Conjoint Analysis analyzes multiple approved and emerging therapies based on relevant attributes such as safety, efficacy, frequency of administration, designation, route of administration, and order of entry. Scoring is given based on these parameters to analyze the effectiveness of therapy.

In efficacy, the trial's primary and secondary outcome measures are evaluated; for instance, in trials for NPC, one of the most important primary endpoints was achieving NPC Clinical Severity Scale (NPC-CSS), plasma oxysterols, lyso-sphingomyelin-509 (lyso-SM-509), and bile acid derivatives, etc. Based on these, the overall efficacy is evaluated.

Further, the therapies' safety is evaluated wherein the acceptability, tolerability, and adverse events are majorly observed, and it sets a clear understanding of the side effects posed by the drug in the trials. In addition, the scoring is also based on the route of administration, order of entry and designation, probability of success, and the addressable patient pool for each therapy. According to these parameters, the final weightage score and the ranking of the emerging therapies are decided.

Market Access and Reimbursement

Because newly authorized drugs are often expensive, some patients escape receiving proper treatment or use off-label, less expensive prescriptions. Reimbursement plays a critical role in how innovative treatments can enter the market. The cost of the medicine, compared to the benefit it provides to patients who are being treated, sometimes determines whether or not it will be reimbursed. Regulatory status, target population size, the setting of treatment, unmet needs, the number of incremental benefit claims, and prices can all affect market access and reimbursement possibilities.

Zevra has introduced AmplifyAssist, a comprehensive support program for caregivers and individuals living with NPC who are prescribed MIPLYFFA. The program provides clinical education through product and disease state information, along with practical tools for therapy management, while emphasizing that it does not replace medical advice or discussions with healthcare providers. It also offers insurance coverage support to help patients understand their benefits and navigate the process of obtaining coverage for specialty medications, as well as access support to identify and enroll eligible patients in financial assistance programs to manage treatment costs. In addition, AmplifyAssist coordinates prescription fulfillment to ensure ongoing management and timely delivery of medications.

The report further provides detailed insights on the country-wise accessibility and reimbursement scenarios, cost-effectiveness scenario of approved therapies, programs making accessibility easier and out-of-pocket costs more affordable, insights on patients insured under federal or state government prescription drug programs, etc.

Niemann-Pick Disease Type C (NPC) Report Insights

• Patient Population
• Therapeutic Approaches
• Niemann-Pick Disease Type C (NPC) Market Size and Trends
• Existing Market Opportunity

Niemann-Pick Disease Type C (NPC) Report Key Strengths

• Ten-year Forecast
• The 7MM Coverage
• Niemann-Pick Disease Type C (NPC) Epidemiology Segmentation
• Key Cross Competition

Niemann-Pick Disease Type C (NPC) Report Assessment

• Current Treatment Practices
• Reimbursements
• Market Attractiveness
• Qualitative Analysis (SWOT, Conjoint Analysis, Unmet needs)

Key Questions:

• Would there be any changes observed in the current treatment approach?
• Will there be any improvements in Niemann-Pick Disease Type C (NPC) management recommendations?
• Would research and development advances pave the way for future tests and therapies for Niemann-Pick Disease Type C (NPC)?
• Would the diagnostic testing space experience a significant impact and lead to a positive shift in the treatment landscape of Niemann-Pick Disease Type C (NPC)?
• What kind of uptake will the new therapies witness in the coming years in Niemann-Pick Disease Type C (NPC) patients?