The International Niemann-Pick disease registry-A resource for researchers worldwide

Background

The International Niemann-Pick Disease Registry is a web-based, patient-led independent registry for the collection of prospective and retrospective clinical data from Niemann-Pick Disease patients. Consisting of a Clinician Reported Database (CRD) and a Patient Reported Database (PRD). The INPDR is a community resource to illuminate the natural history of NPD and improve outcomes for patients and their families.

Methods

For the CRD clinicians at sites known to see patients were invited to an introductory meeting to assess interest and site feasibility. The site primary investigator (PI) completed a site questionnaire to confirm appropriateness of the site and ability of site. Protocol, study documents and data sharing agreement were provided in one of 13 languages as required.

Submission to ethics then follows a standard operating procedure to ensure full compliance.

Once ethically approved the site undergoes a final training session for data entry and is provided with log in details to enter patient data. Participants consent to PRD directly. They complete questionnaires on general quality of life, disease specific quality of life, disease severity, unmet needs and care-giver experience.

Results

The registry has been growing and developing strongly over the last ten years and now includes 406 patients (320 with NPC and 86 with ASMD) across 20 clinical sites in 11 different countries in the CRD. A further 37 sites are in the pipeline. There are also 118 patients in the PRD (89 with NPC and 28 with ASMD).

Outputs

The INPDR has built a registry underpinned by a robust quality management system, strong data quality processes, and a robust governance model to oversee data sharing. To date, the INPDR has approved three research projects including an investigation into disease specific quality of life in NPC and a study on seizure activity in NPC. Several other research studies are planned. It has also established the INPDR Gateway, a subsidiary organisation to manage commercial services on behalf of the INPDR. Here the INPDR shall present the projects approved by INPDR and describe how researchers can use the INPDR to support their research.