Progress made possible by you



If you are a clinician or health professional working in the field of Niemann-Pick diseases, here are answers to some of the questions we’re most often asked about the International Niemann-Pick Disease Registry (INPDR).

The INPDR Clinician Reported Dataset is a prospective, multi-centre, multinational, observational registry involving about 1,000 NPD patients – with patients being followed for a minimum of 5 years after enrolment.

Supporting and getting involved with the CRD is easy and won’t take a huge amount of your time. It involves local site set-up using INPDR provided materials (we’ll help with this), signing up your eligible patients and then entering data into the electronic data capture (EDC) system, as well as a few other standard clinical research activities expected for observational registry studies.

We collect data via the CRD – a web-based EDC system that’s accessible to pre-approved users at authorised study sites. Access to the CRD is granted once study sites have obtained all required study approval documents.

The EDC system is designed to offer flexibility regarding how often data is collected. The ideal is that data is collected in line with a patient’s standard of care visit schedule. The CRD protocol does not require any additional visits or investigations outside of the patient’s standard of care. The EDC system also allows for historical data to be entered.

The INDPR is the data controller – but we don’t own any data. Patients consent to having their data captured by the INPDR and can withdraw their consent at any time.

What we do make sure is that all patient data is maintained and protected to the highest regulations and standards.

The CRD collects data for both Acid Sphingomyelinase Deficiency and Niemann-Pick Disease Type C, with differing data being collected for each disease. Data to be collected includes demographic information, genetic information, diagnosis, medical history and co-morbidities, treatment history, physical assessments and disease-specific assessments. Only data generated from routine standard of care will be collected in the CRD.

Applicable research governance approval, including Institutional Review Board/Research Ethics Committee, is required before any study activities can take place at site. We can provide all necessary documents for applying for research governance approvals, as well as any additional documents that may be required.

Sponsorship of the CRD is arranged by either the country lead site or with the individual study site, depending on the research governance practice of the country. In addition, data sharing agreements are arranged between the study site and the INPDR to allow for data transfer.

Patients can withdraw their consent at any time without reason. If one of your patients no longer wishes to take part in the Clinician Reported Data, they can decide what will happen to any data already entered into the EDC system, such as whether it is maintained or deleted. Any research results already generated from your clinical data cannot be destroyed or recalled– but please be assured they are completely anonymised.

Our aim at INPDR is to provide as much support for study sites as we can. We provide all set-up documents and we work closely with sites to produce any additional documents required for study set-up.

We can currently provide set-up materials in 10 languages. Comprehensive training is provided to all site staff and one-to-one support is available throughout the duration of the study.

Yes – as a clinician you can submit a data access request to access CRD data to support any investigator-initiated research. All data access requests will then be reviewed and assessed by our Scientific Advisory Committee.

Traditionally, disease registries were created as product registries owned by pharmaceutical companies. This led to siloing of valuable data and duplication of work, where multiple registries exist for one disease.

Instead, the INPDR is a patient registry that covers all Niemann-Pick diseases – Acid Sphingomyelinase Deficiency (also known as Niemann-Pick Disease Type A and Type B) and Niemann-Pick Disease Type C. The aim of the INPDR is to be a single disease registry which can support the data requirements of different stakeholders, negating the need for multiple registries for Niemann-Pick diseases.

The INPDR can serve as a data source to support pharmaceutical industry requirements, including post-authorisation studies which may be required by regulatory agencies such as the European Medicines Agency and the US Food and Drug Administration, as well as opportunities to support the development of new therapies.

Any work undertaken with pharmaceutical organisations is governed by agreements and managed with oversight from our Scientific Advisory Committee and board of trustees. No access to direct patient-identifiable raw data is provided and pharmaceutical organisation are required to complete data access requests in the same way that patient advocates, clinicians, researchers and scientists would.

We hope these FAQs help. If you have any further questions which have not been covered, please don’t hesitate to get in touch with us directly at