NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding Niemann-Pick disease type C is a common challenge in rare diseases, particularly those affecting fewer than 10,000 individuals. The genetic basis was only recently identified, and ongoing clinical characterization is needed to fully understand the diverse manifestations of the disease. This complexity, combined with the rarity of the condition, has hindered the ability to conduct extensive systematic studies.
To navigate Niemann-Pick disease type C, it is recommended to seek a specialist in metabolic disorders or a neurologist with experience in lipid storage diseases. You may also consider reaching out to patient organizations such as the Ara Parseghian Medical Research Foundation and the Hide & Seek Foundation for Lysosomal Disease Research for support and resources. Additionally, participating in patient registries or natural history studies can provide valuable insights and help advance research in this area. Genetic counseling may also be beneficial given the known genetic components of the disease.
Currently, there are 12 active clinical trials focused on Niemann-Pick disease type C, exploring various treatment options and interventions. While there are no orphan drug designations at this time, the ongoing research holds promise for future therapeutic developments. For more information on these trials, you can visit ClinicalTrials.gov and search for 'Niemann-Pick disease type C'.
Actionable guidance for navigating care for Niemann-Pick disease type C
To navigate Niemann-Pick disease type C, it is recommended to seek a specialist in metabolic disorders or a neurologist with experience in lipid storage diseases. You may also consider reaching out to patient organizations such as the Ara Parseghian Medical Research Foundation and the Hide & Seek Foundation for Lysosomal Disease Research for support and resources. Additionally, participating in patient registries or natural history studies can provide valuable insights and help advance research in this area. Genetic counseling may also be beneficial given the known genetic components of the disease.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the Niemann-Pick disease type C community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
2 peer-reviewed sources from PubMed
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 7 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.