Registry services
Resources & Publications
- In this section:
- Registry services
- Resources & Publications
- Press Releases
Here you’ll find a curated collection of resources and publications developed by the International Niemann-Pick Disease Registry (INPDR). It reflects both our commitment to active engagement with the global Niemann-Pick community and our rigorous, evidence-led approach to advancing understanding of the disease.
Our work is regularly shared at international scientific and clinical conferences, where we collaborate with patients, families, clinicians, researchers, and other stakeholders. Alongside this, we produce high-quality outputs – including scientific posters, reports, and research publications – that contribute to the growing evidence base in Niemann-Pick diseases.
Together, these materials demonstrate how INPDR data is translated into meaningful insights, supporting research, informing clinical practice, and strengthening understanding across the field. Whether you are a researcher, clinician, patient, policymaker, or partner organisation, this section provides access to trusted, relevant, and up-to-date information.
Peer-reviewed manuscripts
- Investigating the real-world experience of patients with Niemann-Pick disease type C (NPC) and their carers: Preliminary results
- Characterising Neurological and Psychiatric Manifestations of Niemann-Pick Disease Type C
- Disease progression in Niemann-Pick Disease Type C Across the Lifespan: Functional Decline by Domain and Reporting Perspective
- INPDR NP Global Unique Identifier (GUID) Standard
- INPDR Forum 2025: Meeting Report
- ISO 9001:2015 Certification – Quality Management Compliance
- ASMD Niemann-Pick Disease - Guidelines - 2023
- Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)
- Exploring quality of life in people with Niemann-Pick disease type C
- Recommended Changes to Lay-reported NPCCSS Bulletin
- 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
- Development of a patient-reported data collection system for Niemann-Pick disease
- 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
Conference abstracts & posters
- ECRD 2020: A Global Gateway to a Lasting Legacy
- WORLD 2020: Characteristics of NPC and ASMD patients
- WORLD 2020: The characteristics of NPC and ASMD patients platform presentation
- WORLD 2020: A beacon for rare diseases
- SSIEM 2019: Building Bridges for the future
- WORLD 2019: Challenges of regulatory requirements for patient registries in different countries
- WORLD 2018: A new model of patient-empowered data ownership and management
- 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
INPDR produced materials
External materials
- ISO 9001:2015 Certification – Quality Management Compliance
- ASMD Niemann-Pick Disease - Guidelines - 2023
- Niemann-Pick Disease (NPC) - Guidelines - 2023
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)
- Consensus clinical management guidelines for Niemann-Pick disease type C
- SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants