Resources
International Niemann-Pick Disease Registry (INPDR)
The INPDR is a disease-specific patient registry created by the Niemann-Pick community for the Niemann-Pick community. It was developed to benefit not only patients and families, but also clinicians, researchers and other key stakeholders working to improve the lives of those affected by Niemann-Pick disease. The INPDR collects both patient reported data and clinician reported data.
Think Again. Think NPC
Think Again. Think NPC is an awareness campaign developed by the International Niemann-Pick Disease Alliance (INPDA) in collaboration with a multidisciplinary advisory committee dedicated to improving recognition of the signs and symptoms of NPC to speed up diagnosis. It aims to support healthcare professionals with little or no knowledge of NPC in recognising the key signs and symptoms of the disease, ultimately speeding up diagnosis. Early diagnosis means that people with NPC can access treatment and support.
Think NPC. Talk NPC
Think NPC. Talk NPC, a subsidiary campaign to Think Again. Think NPC, focuses on how someone with undiagnosed NPC or their carer/family members might describe their symptoms to a healthcare professional to increase clinical recognition. The following symptom cards can be downloaded here:
NPC-SI clinical publications
The clinical publications supporting the NPC-SI are linked below:
- Development of a Suspicion Index to Aid Diagnosis of Niemann-Pick Disease Type C
- The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis
- Niemann-Pick disease type C symptomatology: an expert-based clinical description
- Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages
- A Suspicion Index to Aid Screening of early-onset Niemann-Pick Disease Type C (NPC)
- Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools
- Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestations
FindZebra
A specialised search engine supporting healthcare professionals to understand possible diagnoses for difficult cases by typing in the symptoms that an individual presents with.
EURORDIS – Rare Diseases Europe
A non-profit alliance of over 1,000 rare disease patient organisations from 74 countries, has launched several initiatives to improve diagnosis for rare diseases