International Niemann-Pick disease study
Research type
Research Study
Full title
International Niemann-Pick Disease Registrty (NPDR)
IRAS ID
150227
Contact name
Tarekegn Hiwot
Contact email
Sponsor organisation
University Hospitals Birmingham
Duration of Study in the UK
15 years, 0 months, 1 days
Research summary
Niemann-Pick type A, B and C disease (<0.02, 0.05 and 0.75 cases/100,000 respectively) are rare genetic diseases with distinct but overlapping clinical spectrum that ranges from neonatal fatal disorder to an adult onset chronic debilitating neurodegenerative disease. The disease usually progress to death in early adulthood. Patients are distributed throughout the EU but disproportionately affect ethnic minorities. There are as yet no disease specific orphan drug treatments available to treat any of the three disease conditions. A first high cost product, Miglustat, has been granted marketing authorization in Europe for the stabilisation of neurological manifestations. These diseases may show insights into common conditions (e.g. Alzheimer’s Disease), but research is scarce and scattered in different laboratories throughout the EU and no access to well characterized cohorts of patients. The lack of specific health policies for these diseases and the scarcity of expertise translate into delayed diagnosis and difficult access to care. This results in additional physical, psychological and intellectual impairments, inadequate or harmful treatments, loss of confidence in the healthcare system and patient disempowerment, even though these diseases are compatible with improved quality of life if diagnosed and managed promptly. Most doctors are not educated in these diseases, and do not recognised them when patients present. Misdiagnosis and non-diagnosis are barriers to improving quality of life for these patients. There are almost no multidisciplinary teams of experts in these diseases and there are no EU registries. Diagnostic testing centres are concentrated in a few member state and there us unequal patient access to testing across the EU. However, there is clear evidence that rare disease registries can lead to improved recognition, correct diagnostic and earlier treatment.
REC name
North East - Newcastle & North Tyneside 1 Research Ethics Committee
REC reference
15/NE/0001
Date of REC Opinion
23 Jan 2015
REC opinion
Further Information Favourable Opinion