OBSERV-GBA v1.0
Research type
Research Study
Full title
A Telephone-Based Observational Study to Examine the Role of Variation in the Glucocerebrosidase Gene on Disease Course in Lewy Body Disorders (OBSERV-GBA)
IRAS ID
183592
Contact name
Byron Creese
Contact email
Sponsor organisation
King's College London
Duration of Study in the UK
4 years, 6 months, 30 days
Research summary
This study will investigate to what extent naturally occurring genetic variation in a gene called ‘glucosidase, beta, acid’ (GBA) is associated with a more severe disease course in Parkinson's disease (PD) and dementia with Lewy bodies (DLB). This research will be focussed on non-motor symptoms (things like hallucinations, sleep disorders and mild memory and thinking problems). These symptoms are distressing and there is a lack of effective treatments so understanding why they occur in some people is important.
Relatively rare variation in the GBA gene, which is found in 3-5% of people in the UK, is the largest known risk factor for PD and DLB. There is evidence such variation in the DNA sequence of the GBA gene may be associated with abnormal deposits of protein into ‘Lewy bodies’, particularly in areas of the brain associated with memory and thinking. Many of the symptoms of Parkinson’s disease and dementia with Lewy bodies are due to a loss of nerve cells which produce the chemical messenger dopamine in the brain. It is thought that the study of Lewy bodies may yield important clues to why these brain changes occur.
If the GBA risk variants promote Lewy body build-up we would expect those people carrying such variants to have a more severe disease course, characterised by a greater risk of common non-motor symptoms.
In order to investigate this relationship we will sequence the sections of the GBA gene which are responsible for making the enzyme glucocerebrosidase. ‘Sequencing’ in this context means we will find out the exact instructions for making glucocerebrosidase in each individual. We will then be able to compare these instructions between people and look at whether any differences account for observable changes in the course of the disease.
REC name
East Midlands - Leicester Central Research Ethics Committee
REC reference
15/EM/0510
Date of REC Opinion
11 Nov 2015
REC opinion
Further Information Favourable Opinion