Remote assessment of Parkinsonism supporting ongoing development of interventions in Gaucher's disease

Research summary

This project aims to remotely detect the early signs and symptoms of Parkinson's disease (PD) in a group of patients who carry a gene (glucocerebrosidase-GBA) which causes a genetic predisposition to it. We aim to detect these signs and symptoms prior to the clinically diagnostic onset of the movement related (motor) symptoms of the disease. We will assess for signs and symptoms including anxiety, depression, bradykinesia (slowness of movement), cognitive decline, reduced sense of smell, abnormal sleep behaviours, constipation and erectile dysfunction associated with the very early stages of PD. Participants will be required to undertake a questionnaire and a number of interactive assessments, which are designed to identify risk factors and early clinical signs of Parkinson's. Participants will be genotyped in order to establish genetic factors which determine those who do and do not develop PD. The answers to this questionnaire/assessments/genotyping will be stored in a secure internet database and will generate a risk score. Blood, urine and cerebrospinal fluid will be analysed to look for biological markers that predict the onset of PD. Under most circumstances the study will be undertaken entirely at the participant's home, either through an internet portal or with the use of postal assessments. We intend that this study will enable us to understand and describe the early stages of PD in this patient group and provide insights into the genetic risk factors that contribute to it.

Principal Investigator

Prof Michele Hu

Contact us

Email: marni.moran@ouh.nhs.uk

IRAS number

173275