What is the INDPR?
The International Niemann- Pick Disease Registry (INDPR) is ground-breaking in bringing together the Niemann-Pick Disease community to enable date to be used for the latest trials and potentially aiding in research that improves the lives of people with Niemann-Pick Disease.
The INDPR is a collaboration between patients, health care professionals and medical researchers, facilitating the improvement of care for those affected by Niemann-Pick Disease. The INDPR replaces the need for multiple registries and offers a single disease specific global registry data resource.
Patients are placed at the heart of the INDPR and working hard behind the scenes are a team passionate about achieving our objectives, as well as a determined global network of experts and advocates.
There are currently 14 clinical centres across six countries providing important patient data to the INDPR, as well as the expanding number of patients self-enrolling and sharing their experiences of living with Niemann-Pick Disease.
Researchers from verified institutions can apply for access to anonymised summaries of date from the INDPR for their own analysis or further study research purposes that will benefit the Niemann-Pick Disease community.
The following publications have used the INDPR:
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.S7
The Registry is made up of Clinician Reported Data (CRD) and Patient Reported Data (PRD). Both are collected electronically via a secure web-based platform.
Patient Reported Data:
Patient Reported Data is added directly by the patient. It is collected via a questionnaire focused upon quality of life questions in order to note the wider impact of the disease. The data you provide will influence progress in care, treatment and research. Participating in the INDPR does not require any extra testing or lifestyle changes.
Participating in the recorded data is an important way to influence progress in research and care for Niemann-Pick disease patients now and in the future.
To sign up to provide Patient Reported Data, there is an online consent process.
You can sign up here.
Clinician Reported Data:
Clinician Reported Data is added when a patient provides their consent for the clinician to share their anonymous medical data, including demographic data, biochemical and genetic testing results, symptom’s and treatment from a patient’s first visit and subsequent appointments.
By enabling appropriate access to anonymised data, the INDPR will encourage efficient and timely diagnosis, improve the understanding of disease progression and influence insight and development of patient care.
Through adding to the reported data, the INDPR can grow as an invaluable source of information, which will provide an insight into the natural history o Niemann-Pick Disease, its variability amongst the patient population and other diagnostic and treatment details which will help to further support the progression of research.
Both forms of data are useful in progressing research and treatment and have the greatest impact when both forms are added for a patient.
Click here to visit the INDPR website which includes further information, handy FAQs and helpful links.
Please take a moment to read this important announcement from Mallinckrodt Pharmaceuticals in regard to the clinical trial of Adrabetadex for NPC-1. We recognise that this may be a surprising and disappointing development for our community as a whole. Please be assured that we are advocating for further, clearer information and will follow up with our response and next steps shortly.
Sandra Cowie, President, INPDA
Joslyn Crowe, Executive Director, NNPDF
Toni Mathieson, Chief Executive, NPUK