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
- Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) | 14th February 2022
- Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase defciency | 1st February 2024
- 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C | 26th April 2026
- Real-life impacts of olipudase alfa: experiences of adults receiving enzyme replacement therapy for acid sphingomyelinase deficiency—results from an international survey study | 30th September 2025
- Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) | 17th April 2023
- Consensus clinical management guidelines for Niemann-Pick disease type C | 6th April 2018
- SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants | 26th October 2015
- Investigating the real-world experience of patients with Niemann-Pick disease type C (NPC) and their carers: Preliminary results
- Disease progression in Niemann-Pick Disease Type C Across the Lifespan: Functional Decline by Domain and Reporting Perspective
- 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
- 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
- Characterising Neurological and Psychiatric Manifestations of Niemann-Pick Disease Type C
Conference abstracts & posters
- Investigating the real-world experience of patients with Niemann-Pick disease type C (NPC) and their carers: Preliminary results | 3rd February 2026
- Characterising Neurological and Psychiatric Manifestations of Niemann-Pick Disease Type C | 3rd February 2026
- Disease progression in Niemann-Pick Disease Type C Across the Lifespan: Functional Decline by Domain and Reporting Perspective | 3rd February 2026
- INPDR NP Global Unique Identifier (GUID) Standard | 3rd February 2026
- The impacts of olipudase alfa on adults with ASMD: The patient-reported experience | 1st February 2024
- Development of a patient-reported data collection system for Niemann-Pick diseases | 2nd February 2023
- The International Niemann-Pick Disease Registry (INPDR) – A new model of patient-empowered data ownership and management | 5th February 2018
- Challenges of regulatory requirements for patient registries in different countries | 4th February 2019
- WORLD 2020: Characteristics of NPC and ASMD patients | 10th February 2020
- WORLD 2020: The characteristics of NPC and ASMD patients platform presentation | 10th February 2020
- WORLD 2020: A beacon for rare diseases | 10 February 2020
- SSIEM 2019: Building Bridges for the future | 3rd September 2019
- WORLD 2019: Challenges of regulatory requirements for patient registries in different countries | 4th February 2019
- WORLD 2018: A new model of patient-empowered data ownership and management | 5th February 2018
- ECRD 2020: A Global Gateway to a Lasting Legacy
- 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
- INPDR Forum 2025: Meeting Report | 20th September 2025
- Exploring quality of life in people with Niemann-Pick disease type C | April 2024
- Recommended Changes to Lay-reported NPCCSS Bulletin | April 2024
- ECRD 2020: A Global Gateway to a Lasting Legacy | 14th May 2020
- 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 CRD Infographic | June 2026
- INPDR - Brief History Timeline | 2026
- Niemann-Pick Disease (NPC) - Guidelines | 2023
External materials
- ISO 9001:2015 Certification – Quality Management Compliance | 8th April 2025
- ASMD Niemann-Pick Disease - Guidelines - 2023
- Niemann-Pick Disease (NPC) - Guidelines - 2023
- Consensus clinical management guidelines for Niemann-Pick disease type C
- SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants