Facilitating Research

The INPDR is ground-breaking in bringing together the Niemann-Pick Disease community to enable data to be used for cutting edge trials and potentially pioneering research that improves the lives of people with Niemann-Pick Diseases.

As the Registry develops and we are able to collect data from more patients, the more useful it is to researchers.

There are currently 14 clinical centres across six countries adding vital patient data to the INPDR, not to mention an ever growing number of patients self-enrolling and sharing their experience of living with Niemann-Pick Disease.

Researchers from institutions that we verify can apply for access to anonymised, summary data from the INPDR for their own analysis or study research purposes for the benefit of the Niemann-Pick Disease community.

You can apply for Registry data by completing a Data Access Request form. Please make sure you have read our Data Request Process and provide as much information as possible, including study time frames.

You can get in touch to discuss your request and obtain a copy of our Data Request Process and Data Access Request form. When we receive your completed form, it will be reviewed by the Scientific Advisory Committee and the Registry Management Team. You will be contacted using the details your provide on your form with the outcome of your request.

If you would like to use data from the Registry for the purpose of creating a publication (such as an article or a poster), you will need to read the INPDR Publication Policy then get in touch to request a Publication Project form.

Publications that have used the INPDR will be kept up to date as follows:

Geberhiwot, T., Moro, A., Dardis, A., Ramaswami, U., Sirrs, S., Marfa, M., Vanier, M., Walterfang, M., Bolton, S., Dawson, C., Héron, B., Stampfer, M., Imrie, J., Hendriksz, C., Gissen, P., Crushell, E., Coll, M., Nadjar, Y., Klünemann, H., Mengel, E., Hrebicek, M., Jones, S., Ory, D., Bembi, B. and Patterson, M. (2018). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet Journal of Rare Diseases, 13(1).
Zampieri, S., Filocamo, M., Pianta, A., Lualdi, S., Gort, L., Coll, M., Sinnott, R., Geberhiwot, T., Bembi, B. and Dardis, A. (2015). SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. Human Mutation, 37(2), pp.139-147.
Imrie, J., Pineda, M., Coll, M., Hiwot, T., Jones, S., Bembi, B., Hrbicek, M., Mengel, E., Crushell, E., Patterson, M. and Green, J. (2018). The International Niemann-Pick Disease Registry (INPDR) – A new model of patient-empowered data ownership and management. Molecular Genetics and Metabolism, 123(2), p.S68.
Imrie, J., Patterson, M., Green, J., Mathieson, T. and Bolton, S. (2019). Challenges of regulatory requirements for patient registries in different countries. Molecular Genetics and Metabolism, 126(2), pp.S77-S78.