Parkinson's Clinical Research

AQP4 Gene in Parkinson's Study 

AQP4 Gene and How Parkinson's presents and progresses in people with Parkinson's

UK PD-CSG AQP4 Study Presentation 01.12.2023 sharable.pptx

Chief Investigator: Professor Marios Politis, University of Exeter 

Recruiting Sites: Royal Devon and Exeter Hospital, Queen Elizabeth Hospital, University Hospital Lewisham, William Harvey Hospital, Prince Philip Hospital. 

Timeframe: Scheduled study end date April 2024

UK Recruitment Target: 800 

Further Information

Study Goal:

Parkinson’s disease (PD) is a neurological condition which worsens over time and mainly affects body movements. In PD, we know that there is a build-up of certain proteins inside the brain, the most important of which is called α-synuclein. The build-up of this protein is thought to negatively affect, and ultimately kill, brain cells. It is not known how or why this protein builds up in the brain. If more information was available, drugs could be created with the aim of delaying or completely stopping the progression of the disease.

Very recently, it was discovered that the brain has its own system to get rid of waste and that this system works best during sleep. It is called the “glymphatic system”, and researchers believe that reduced activity of this system is responsible for the build- up of unwanted molecules inside the brain. A protein called Aquaporin 4 (AQP4) plays an important role in the glymphatic system running effectively. It is thought that changes in the AQP4 protein may reduce glymphatic system function and contribute to the development of neurodegenerative diseases, such as Parkinson’s disease and Alzheimer’s disease. Research has shown us that certain genetic changes in the AQP4 gene are associated with the progression of Alzheimer’s disease.

These AQP4 genetic changes are very common in the general population and do not directly cause a specific disease or condition, however, they might increase (or decrease) the overall risk in developing a condition during an individual’s life. So far, no study has ever checked whether having certain genetic changes in the AQP4 gene influences the course of Parkinson’s disease.

With this study, our aim is to learn whether the presence of certain genetic changes in the AQP4 gene are linked to the development of random and hereditary forms of Parkinson’s Disease. Moreover, since it is believed that the glymphatic system works best during sleep, we will measure the role of sleep disturbances in disease features.  


What's Involved:

If you are suitable, and agree to undergo this study, the study team will ask you to attend the Royal Devon & Exeter Hospital Research Site premises for a clinical assessment that will last approximately an hour. After this the next part of the study is completed at your home. You will be sent an Actigraph watch (similar to a smart watch) for you to wear at home for 14 days and complete a sleep diary. You will also be asked to complete some online questionnaires and tests. The study team have a small travel budget to reimburse you and your carer for transportation costs to and from the appointment and for refreshments throughout your visit (up to £25). 


Who Can Take Part? 

You could be eligible if you fit the below criteria:

Interested Investigators:

To discuss becoming a participating site, contact: Holly Wright the Study Manager  h.wright3@exeter.ac.uk or our coordinator Emma Fargher md4efa@sheffield.ac.uk

People with Parkinson's:

If you are interested, please email or call and one of the team would be happy speak with you and tell you more about the study: 

Call: 01392 722935