Registry services
Publications
- In this section:
- Registry services
- Resources
- Publications
- Press Releases
In this section, you will find a collection of reports, studies, articles, and other insightful materials produced by the INPDR. Whether you're a researcher, clinician, patient, policymaker, or simply interested in staying informed, this section offers a wealth of knowledge to explore.
- INPDR - Brief History Timeline (2025)
- Exploring quality of life in people with Niemann-Pick disease type C
- Recommended Changes to Lay-reported NPCCSS Bulletin
- Part I - Impact of ASMD on adult patients - Survey Findings 11th March 2024
- Part II - Impact of ASMD on adult patients - Interview Findings 11th March 2024
- The impacts of olipudase alfa on adults with ASMD: The patient-reported experience
- Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase defciency
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
- Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
- Development of a patient-reported data collection system for Niemann-Pick disease
- SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
- The International Niemann-Pick Disease Registry (INPDR) – A new model of patient-empowered data ownership and management
- Challenges of regulatory requirements for patient registries in different countries
- Consensus clinical management guidelines for Niemann-Pick disease type C
