International Niemann-Pick Disease Registry (INPDR)
The International Niemann-Pick Disease Registry (INPDR) is a new concept in rare disease registries; it is a unifying force with the power to increase knowledge and understanding of Niemann-Pick diseases.
The INPDR was launched in 2013 with grant funding from the Consumers, Health, Agriculture and Food Executive Agency (CHAFEA – an executive agency of the European Union). The resulting three-year grant project was supported by 11 professional partners (7 Clinical centres and 4 patient organisations) in seven EU countries, together with 17 associate partners from the rest of the world. The project successfully created a multifunctional web-based registry capturing clinical data and contributing to effective clinical management, providing a platform for future research.
Recognising the need to sustain this invaluable resource, the INPDA supported the INPDR in achieving independent status as a non-profit charitable company in 2017, constituted under UK law.
The INPDR is now established as an independently governed rare disease registry for the global collection of Niemann-Pick data, encompassing both Acid Sphingomyelinase Deficiency (ASMD type A and B) and Niemann-Pick disease type C (NPC).
What is the purpose?
The purpose of the INPDR is to develop and sustain a unique patient-led database that supports research and therapy development and improves care and treatment for Niemann-Pick diseases (ASMD or NPC) patients through global collaboration.
- Facilitating clinical research through data sharing and provision of analytical services
- Describing the epidemiology and natural history of ASMD Niemann-Pick disease and Niemann-Pick type C
- Establishing genotype-phenotype correlations
- Facilitating accelerated recruitment to interventional studies
- Accelerating progress in the understanding of Niemann-Pick diseases, be encouraging the education of health professionals and researchers
- Supporting the development of standards of diagnosis, clinical management, and quality of care
- Providing evidence to enable advocacy and inform public debate and decision making
- Supporting network development and collaboration across the patient, clinical and research community
Why join?
Due to its rarity, Niemann-Pick diseases, like other rare conditions, poses unique challenges. The small number of affected patients results in limited clinical experience. However, it is our hope that the International Niemann-Pick Disease Registry (INPDR) will help increase knowledge and understanding of Niemann-Pick diseases through the facilitation of an improved and more supportive healthcare environment for patients affected by Niemann-Pick diseases.
By participating in the INPDR, you will be having a direct impact on the progress in research and future care and support available to Niemann- Pick diseases patients. There is a global community of patients taking part in the INPDR, who offer invaluable insight into these rare diseases, helping to develop and recruit new clinical studies and support access to new and emerging therapies.
How can I join?
Patients and/or family members can sign up to the Patient Reported Database. Participating in the INPDR does not require any extra testing or lifestyle changes.To sign up for the Patient Reported Data, there is an online consent process.
The Clinician Reported Data can be captured, with consent, by your clinical team who will be in charge of inputting and maintaining the clinical data. Talk to your clinician directly who can provide relevant information and request your consent.
Please note your quality of care will not be affected if you sign up for the INPDR. Taking part either through your clinical or by directly sharing Patient Reported Data is voluntary and you can withdraw your consent at any time without proving any reasons.
Outcomes from the INPDR:
- Been developed collaboratively by patient and professional groups for worldwide use with the initial support of a €3 million EU grant
- Continually used the power of data to improve broader understanding of Niemann-Pick diseases
- Supported and facilitated consistent research and therapy development
- Encouraged earlier diagnosis and equitable access to diagnostic testing
- Established the INPDR as a unifying initiative muchneeded by patients and professional alike
- Patient records are increasing but the INPDR needs more people to sign up in order to harness the power of patient data to improve access to care and treatment and to facilitate research that would improve the patient experience.
Support the INPDA
Join our alliance, promote our work, become a sponsor, or make a donation. We’re eager to connect with individuals, organizations, and institutions worldwide dedicated to improving lives affected by NPD.
Let’s make a difference together!
