International Niemann-Pick Disease Registry Patient Reported Database
Research type
Research Database
IRAS ID
305959
Contact name
Conan Donnelly
Contact email
Research summary
International Niemann-Pick Disease Registry Patient Reported Database
REC name
HSC REC B
REC reference
21/NI/0195
Date of REC Opinion
5 Jul 2022
REC opinion
Further Information Favourable Opinion
Data collection arrangements
The Following data will be collected in the patient reported database
1. General Quality of life data including SF36 for adults only and PEDS QL for children (age specific).
2. Disease specific quality of life data - the NPC Quality of Life Questionnaire developed by the University of Aston and partially validated. There is no disease specific quality of life questionnaire for ASMD.
3. Caregiver quality of life - carer quality of life will be measured using the CarerQOL instrument for those who are completing the questionnaire as caregivers. Further questions have been added on the economic and family impact of the disease previously used in the original form of the Patient Reported Database.
4. Patient reported disease severity - A partially validated lay reported disease severity scale for NPC has been included. An un-validated ASMD patient reported disease severity scale has also been included.
5. Validated health service utilisation and economic burden instruments specific to ASMD have been added. No such instruments are included for NPC
6. Questions on supportive care needs have been included for both ASMD and NPC.7. A small number of demographic questions have also been included.
Research programme
The vision of the INPDR is to improve health services globally to create a more supportive environment for NPD patients, to reduce morbidity and premature mortality, and to improve quality of life. Our strategic objective is to support efficient diagnosis, treatment, and research for NP diseases worldwide. This is achieved by implementing an international registry for NPD, containing clinical, genetic and biochemical diagnostic and patient reported outcome data. This will support equality of access to diagnosis and care; educate health professionals; and empower patients. The INPDR is a resource for research and its greatest value lies in sharing the data with the clinical research community. The registry will support research in the interest of improving outcomes in the field of Niemann-Pick disease. Data shall be shared safely and securely and in compliance with the INPDR Data Access Request Policy. Briefly, all requests go through a process of feasibility assessment followed by review by a Scientific Advisory Committee and finally if acceptable approval by the INPDR Board of Trustees. Applicants may include patient organisations, clinicians, academia with no costs involved. Commercial organisations must sign up to a subscription model to request the services of the INPDR.
Research database title
International Niemann-Pick Disease Registry Patient Reported Database
Establishment organisation
International Niemann Pick Disease Registry
Establishment organisation address
Suite 2 Vermont House,
Washington,
Newcastle
NE37 2SQ