INPDR Project Overview
- The International Niemann-Pick Disease Registry project is a collaboration between scientists, clinicians and
patient associations and is supported by the EU Directorate General for Health and Consumers (DG-SANCO) via the
Consumers, Health, Agriculture and Food Executive Agency (CHAFEA).
- The project consists of 11 associate partners and 16 collaborative partners across the globe, covering a vast
range of expertise in the field of Niemann-Pick Diseases. Through the International Niemann-Pick Disease
Alliance, we work with Niemann-Pick Disease societies across the world to ensure all NPD patients everywhere
have the opportunity to participate in this registry.
- Currently, multiple registries may exists to capture data for one disease group. This causes a duplication of
data between registries, and results in significant time, effort and costs being spent to complete this work.
The INPDR aims to create a single registry capturing data for Niemann-Pick Diseases types A, B and C..
- As well as capturing data to comprehensively document the natural history of the Niemann-Pick Diseases, the
INPDR can facilitate data capture for post-marketing surveillance .
- Working with our partners across the world, a global picture of Niemann-Pick Disease will be made clear,
leading the way for significant developments in understanding and research.
Frequently Asked Questions
What is collected?
The registry currently collects patient's clinical data, contributed directly from their clinicians.
Diagnostic information, clinical history, treatments, medicines and test results are captured at enrolment and
at each subsequent follow-up visit.
A Patient Reported Outcome section of the registry is currently in development. This will allow patients to
directly contribute data relating to the outcomes and socio-economic impact of NPD, allowing for a holistic
picture of NPD to develop.
Clinical data captured within the registry is entered directly by the patient's clinical care team. A Data
Manager undertakes a comprehensive data review on an annual basis and liaises remotely with the clinical team
to ensure all data contributed is accurate and complete.
Program specific information
Data requirements may differ between organizations. Data captured can be customised to the difference
specifications, meaning that users can capture exactly what they need. Certain data can be made private in
respect to regulatory requirements, or due to industry competition.
The INPDR has received Ethics Board approval, meaning that data captured meets the legal requirements for
operation. All patients who participate in the registry have also undergone a comprehensive consenting process
to ensure that they are completely happy to have their data entered into the registry.
Patients for clinical studies
As well as documenting the natural history of NPD and aiding Post Marketing Surveillance, the registry can
aid clinical trial feasibility assessments.
Data is owned by patients. Patients are able to consent to participate in the registry, and are able to
withdraw their consent at any time. The INPDR regulates data security, quality and access.
Data protection and personal information
Data captured in the registry is anonymised through the removal of patient identifiable information.
Patient's names, contact details and information not pertaining to Niemann-Pick Disease do not feature on the
registry. Patients are identified through the use of unique user identification codes.
Security and Privacy
- Data security and protecting patient information is the top priority of the INPDR team.
- The registry system is hosted at the Melbourne eResearch Group at the University of Melbourne under the
leadership of Professor Richard Sinnott .
- The Melbourne eResearch Group have an extensive portfolio of IT systems used for security-oriented
- Information regarding the IT security arrangements of the registry can be found here.
Project Management Committee are responsible for the management and oversight of the
Dr Tarek Hiwot
- Chief Investigator,
- Work package 1,
- Work package 6,
- Virtual registry and information environment
- Queen Elizabeth Hospital,
- Queen Elizabeth Medical Centre
- Birmingham, B15 2TH UK
- Work package 3
- European section of the INPDA
- Suite 2, Vermont House,
- Tyne and Wear, Washington,
- NE38 8LR UK
- Work package 4
- Core Dataset
- Work package 5
- Biochemical and Molecular diagnosis
- University Hospital "Santa Maria della Misericordia"
- piazzale S. Maria della Misericordia
- 15 Udine, 33100, ITALY
Paul Gissen & Philippa Mills
- University College London
- Gower St, London
- WC1 E6B, UK
Marie Vanier & Yann Nadjar
- Bénédicte Heron
- Pitie-Salpetriere Hospital
- 47, Bd de l'Hopital Paris,
- 75013, FRANCE
Ellen Crushell & Eithna Lofty
- Children's University Hospital
- Temple Street 1, Dublin
- Univerzita Karlova v Praze First
- Faculty of Medicine
- Katerinska 32
- Institute of Inherited Metabolic Disorders
- Ke Karlovu 2 Prague 2
- 128 08, CZECH REPUBLIC
- Enrique Pilar, Mercedes Pineda
- Fundacion Niemann Pick de Espana
- Cronista Muntaner, 27 1 -1 Lleida
- 25001, SPAIN
As well as 11 associated partners the project has 14 collaborating partners from around
the world to provide scientific insight, advice and serve on the Scientific Advisory Committee
- Canadian Chapter of the National Niemann-Pick Disease Foundation (NNPDF)
- Toronto, CANADA
The registry is owned by the International Niemann-Pick Disease Registry Project, and is managed by an
international consortium of professionals and is hosted at the University Hospitals Birmingham NHS Foundation
Trust (UHB) in the UK. The project to develop the INPDR arises from the NPDR project which has received funding
from the European Union, in the framework of the Health Programme.