The International Niemann-Pick Disease Registry (INPDR) is a global disease specific patient registry - a ground-breaking initiative that can harness patient power for the benefit of Niemann-Pick Disease, as well as other rare diseases.
Aside from the research, tests, results, diagnosis odyssey, lack of awareness and so on, living with a rare disease can be an emotionally, mentally and financially draining experience, not to mention isolating.
Understandably many families are just trying to deal with a life-changing diagnosis, focus on the positives and enjoy their time together.
Perhaps the idea of databases, longitudinal studies and research that may not have an immediate impact for them is low on the list of priorities but we’re asking patients to reconsider.
What is the INPDR?
There are two parts to the registry; clinician reported database and patient reported database.
The clinician reported data captures demographic, diagnosis, medical history and treatment details, while the patient reported data looks at the real-world experience of living with the disease: quality of life, health economics and disease impact assessment. Both types of data are held securely and anonymously.
The data held in the registry will:
The Clinician Reported Database and Patient Reported Database have just been redeveloped and launched to give a much better experience for those adding their data but also to make sure the quality of data is of the highest standard and useful for vital research.
A Global Gateway
With over 300 ASMD and NPC patient records from 13 different countries, the INPDR is attracting interest from clinicians, researchers and scientists hoping to learn and improve understanding, diagnosis and therapy for NPD patients and their families. Several more clinicians across the globe are going through the process of consenting patients so they can add to the data. Researchers and industry are exploring more ways they can use the data to learn and progress – we have a stringent Data Access Request process so we can make sure the INPDR and those who use the data within directly contribute to progress for the Niemann-Pick Disease community.
A lasting legacy
Signing up to the INPDR is an opportunity for patients and families to contribute to a legacy.
By sharing their experience of the disease, it will help to make a difference for families, the NPD community and future generations – maybe one day helping to find a cure.
Patient records are increasing but the INPDR need more people to sign up in order to harness the power of patient data.
We urge patients and their families living with Niemann-Pick Disease to speak to their clinicians and let them know they would like their data added to the Registry.
Their clinician can get in touch with us directly for support with the R&D process and relevant paperwork to ensure their patients can provide their informed consent. Patients and their families can also sign up themselves through our new website www.inpdr.org to share their experiences of living with the disease.
We already know what a difference a strong community and network can make to the experience of living with a rare disease. We are surrounded by positive stories of special achievements (big and small), as well as genuine understanding and support during the hard times.
More information about Niemann-Pick Disease
Niemann-Pick Diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults. The INPDR empowers Niemann-Pick Disease patients and their families by giving the opportunity for their vital patient data to redefine the future of the condition.
Niemann-Pick Disease in all its forms is incredibly rare:
Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NP-A) and type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.
Niemann-Pick Disease Type C (NP-C) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.
There is useful information about the INPDR and how you can sign up to either the Clinician Reported Database and/or the Patient Reported Database on our new website or you can connect with us on our Facebook, Twitter and LinkedIn.
We also have a hard-working team behind the scenes ready to guide you through the process of signing up, answer questions you might have and share our work with the rare disease community. You can contact them through the website or by emailing using the buttons below.
Rare Revolution Editor