niemann pick disease type c epidemiology forecast

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.
• 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.
• Mutations in either NPC1 or NPC2 cause the disease, with about 95% linked to NPC1, encoding a late endosomal membrane glycoprotein, and the remainder to NPC2, encoding a lysosomal protein that binds cholesterol.
• In 2024, the US accounted for roughly 40% of NPC cases within the 7MM, representing the largest regional share.
• In 2024, the EU4 and the UK together accounted for nearly 45% of NPC cases in the 7MM, underscoring their substantial contribution to overall demand.

DelveInsight’s “Niemann-Pick Disease Type C (NPC)– Epidemiology Forecast – 2034” report delivers an in-depth understanding of Niemann-Pick Disease Type C, historical and forecasted epidemiology of Niemann-Pick Disease Type C in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Geography Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2020–2034

Niemann-Pick Disease Type C (NPC) Understanding

Niemann-Pick Disease Type C (NPC) Overview

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 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.

Further details related to diagnosis are provided in the report…

Niemann-Pick Disease Type C (NPC) Epidemiology

For the purpose of designing the patient-based model for NPC, 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 7MM covering the United States, EU4 countries (Germany, France, Italy, and Spain) and the United Kingdom, and Japan, from 2020 to 2034.

• 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, the United States reported an estimated ~1,000 prevalent cases of NPC, highlighting its ultra-rare nature.
• In 2024, the United States exhibited the highest NPC burden in the juvenile age group (6 to <15 years), followed by the adolescent and adult-onset population (=15 years).
• In 2024, females accounted for approximately 55% of NPC cases in the United States, compared with around 45% in males, reflecting the gender distribution of the patient population.
• 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 gaze into the epidemiology insights of the real world, we take KOLs and SMEs’ opinions working in the domain through primary research to fill the data gaps and validate our secondary research on disease prevalence.

DelveInsight’s analysts connected with 25+ KOLs to gather insights; however, interviews were conducted with 10+ KOLs in the 7MM. Centers such as the Stanford University School of Medicine, Univesrity of Rostock, Université de Strasbourg, University Hospital of Udine, and others were contacted. Their opinion helps understand and validate current disease prevalence, gender involved with the disease, diagnosis rate, and diagnostic criteria.

As per the KOLs from France, NPC presents in multiple forms based on the age of neurological symptom onset. Most patients exhibit infantile forms, with early onset (<2 years) showing hypotonia and delayed motor development, and late onset (2–6 years) showing clumsiness, speech delay, and cataplexy, with survival extending several years.

As per the KOLs from the US, The diverse and non-specific clinical features of NPC make its recognition challenging, leading to frequent misdiagnosis or missed diagnosis. While NPC most often appears in childhood or adolescence, it can emerge at any age, ranging from a rapidly progressive, fatal neonatal form to a slowly progressing, adult-onset neurodegenerative disorder.

As per the KOLs from Japan, Biallelic mutations in NPC1, which encodes a key lysosomal transmembrane protein, are the primary cause of NPC1. NPC1 dysfunction disrupts cholesterol trafficking, leading to cholesterol and glycosphingolipid accumulation, especially in the central nervous system.

Scope of the Report

• The report covers a segment of executive summary, descriptive overview of NPC, explaining its causes, signs and symptoms, and currently available diagnostic algorithms and guidelines.
• Comprehensive insight has been provided into the epidemiology segments and forecasts, the future growth potential of diagnosis rate, disease progression, and diagnosis guidelines.
• The report provides an edge for understanding trends, expert insights/KOL views, and patient journeys in the 7MM.
• A detailed review of current challenges in establishing the diagnosis.

Niemann-Pick Disease Type C (NPC) Report Insights

• Patient Population
• Country-wise Epidemiology Distribution
• Total Prevalent Cases of NPC
• Total Diagnosed Prevalent Cases of NPC
• Gender-specific Diagnosed Prevalent Cases of NPC
• Type-specific Diagnosed Prevalent Cases of NPC
• Total Treated Cases of NPC

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

• 10 years Forecast
• The 7MM Coverage
• NPC Epidemiology Segmentation

Niemann-Pick Disease Type C (NPC) Report Assessment

• Current Diagnostic Practices Patient Segmentation

Epidemiology Insights

• What are the disease risk, burdens, and unmet needs of NPC? What will be the growth opportunities across the 7MM concerning the patient population of NPC?
• What is the historical and forecasted NPC patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• Why is the diagnosed incidence cases of NPC in Japan lower than the US?
• Which country has a high patient share for NPC?

Reasons to Buy

• Insights on patient burden/disease, evolution in diagnosis, and factors contributing to the change in the epidemiology of the disease during the forecast years.
• To understand the NPC prevalence cases in varying geographies over the coming years.
• A detailed overview of age, gender, mutation-specific cases, and total treated cases of NPC based on diagnostic imaging modality and regional population differences, since variations in imaging sensitivity and demographic factors substantially influence detection rates.
• To understand the perspective of key opinion leaders around the current challenges with establishing the diagnosis options.
• Detailed insights on various factors hampering disease diagnosis and other existing diagnostic challenges.

Frequently Asked Questions

1. What is the forecast period covered in the report?

The Niemann-Pick Disease Type C (NPC) epidemiology report for the 7MM covers the forecast period from 2025 to 2034, providing a projection of epidemiology dynamics and trends during this timeframe.

2. How is epidemiological data collected and analyzed for forecasting purposes?

Epidemiological data is collected through surveys, clinical studies, health records, and other sources. It is then analyzed to calculate disease rates, identify trends, and project future disease burdens using mathematical models.