International Niemann-Pick Disease Registry

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).

The purpose of the INPDR is to develop and sustain an unique patient-led database that supports research and therapy development and improves care and treatment for Niemann-Pick disease (ASMD or NPC)  patients through global collaboration.

There are two parts to the registry; clinician reported database and patient reported database.

The clinician reported data is added when a patient gives their consent for their clinician to share their anonymous medical data, including demographic data, biochemical and genetic testing results, symptoms, and treatments from the patient’s first visit and follow-up appointments.

Patient-reported data is added directly by the patient. It is collected through a questionnaire that asks quality of life questions to capture the wider disease impact.

The data held in the registry contributes to:

• 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

Both types of data are incredibly useful in progressing research, treatment, and care when added in isolation, but they are likely to have a greater impact when forms are added in unison.

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 disease(s).

By participating in the INPDR, and sharing both clinical data and patient perspectives, you will be having a direct impact on the progress in research and future care and support available to Niemann- Pick disease(s) patients.

We have a global community of patients taking part in the INPDR, who offer invaluable insight into this rare disease, helping to develop and recruit new clinical studies and support access to new and emerging therapies.

It is very simple to take part in the INPDR and requires no extra testing or lifestyle changes, but the positives are wide-ranging. It is only through the continued support of patient communities that we will see progress in care, treatment, and research.

You are not obliged to take part in the Registry, and your quality of care will not be at all affected if you do not take part. Participating in the registry is voluntary and you can sign up online

Working closely with our technology partner, OpenApp, a Dublin-based health IT company with experience in disease registration,  we have developed an internationally functioning electronic data capture (EDC) platform with an inbuilt quality system and the highest electronic data security standards.

Patients and/or family members can sign up here 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 content process.

The Clinician Reported Data can be captured, with consent, by your clinical team who will be in charge of inputting and maintaining the 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.

The INPDR vision is the creation and ongoing development of a comprehensive, international data resource, specific to Niemann-Pick diseases which benefits patients by increasing understanding of these rare conditions, encouraging efficient and timely diagnosis, enabling progress in research and clinical trials, and facilitating the development of therapeutic interventions.

To date the INPDR has:

• 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 much-needed 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.

We welcome all patients diagnosed with any type of NPD worldwide. Patients can participate in the Registry regardless of whether or not they are involved in other clinical studies and trials.

We urge patients and their families living with Niemann-Pick diseases to speak to their clinicians and let them know they would like their data added to the Registry.