Quality of life measures for NPD type C
Research type
Research Study
Full title
Development of health-related quality of life scales for patients and parents affected by Niemann-Pick Disease Type C.
IRAS ID
168220
Contact name
Rebecca Knibb
Contact email
Sponsor organisation
Aston University
Duration of Study in the UK
3 years, 0 months, 4 days
Research summary
This study aims to develop reliable and valid quality of life scales for patients affected by Niemann-Pick Disease type C. Niemann-Pick Disease (NPD) is a group of rare inherited disorders (NPD types A, B and C) caused by the accumulation of lipids (which include fats, oils, vitamins and hormones) in the liver, spleen, lungs, bone marrow and brain. In Type C Niemann Pick Disease (NPD-C) low-density lipoprotein (LDL) derived cholesterol and other fatty acids accumulates in the brain cells. It can be diagnosed at any age and symptoms include enlarged liver and spleen, inability to look down and up, difficulty walking and swallowing often resulting in choking, progressive loss of vision, hearing and seizures, and difficulty with muscle co-ordination and balance. Learning ability declines and results in early onset dementia (Mengel et al., 2013).
Currently there is no cure for NPD-C and patients are treated with medication in order to alleviate symptoms. Patients may also require support from a range of health care practitioners such as physiotherapists, speech therapists and educational psychologists. It is clear that NPD-C has an effect on quality of life of the patient and the family but currently there are no validated scales to measure or quantify the impact NPD-C has.
Interviews will be conducted with patients (where this is possible given the level of cognitive impairment) and parents to explore areas of quality of life that are affected by NPD-C. Interviews will then be analysed using content analysis to extract relevant items for a prototype scale. The scale will then be administered to all parents and patients in the UK (approximately 80 patients) alongside scales for validation which will include generic quality of life scales.
REC name
West Midlands - South Birmingham Research Ethics Committee
REC reference
15/WM/0093
Date of REC Opinion
21 May 2015
REC opinion
Further Information Favourable Opinion