AQP4 SNPs in patients with idiopathic and familial Parkinson’s disease
Research type
Research Study
Full title
Study on the effects of single nucleotide polymorphisms in aquaporin-4 (AQP4) gene on the clinical phenotype in patients with idiopathic and familial Parkinson’s Disease
IRAS ID
244212
Contact name
Marios Politis
Contact email
Sponsor organisation
University of Exeter
Clinicaltrials.gov Identifier
18/LO/1149, 18/LO/1149
Duration of Study in the UK
5 years, 5 months, 1 days
Research summary
A newly-characterized system, called glymphatic system, has been found to be important in the removal of waste products in the brain. This system has been postulated to be active only during the sleep and is mainly regulated by a brain substance called Aquaporin-4 (AQP4). Studies in animal models have shown that a failure of the function of this protein may contribute to the accumulation of toxic proteins, such as amyloid-beta and alpha-synuclein, that may lead to neurodegenerative diseases such as Alzheimer’s Disease and Parkinson’s disease. Studies in humans have shown that genetic variations some parts of the AQP4 gene, defined as single nucleotide polymorphisms, may increase the likelihood to develop an aggressive form of Alzheimer’s Disease. However, no studies in humans have ever been performed in Parkinson’s disease.
We aim to elucidate whether genetic variations in the AQP4 gene contribute to variations in the clinical presentation and progression of sporadic and genetic forms of Parkinson’s disease. To do so, the genetic profile of patients will be determined through a small venous blood sample collection. This will be coupled with clinical and sleep assessment, at baseline and after a 1-year follow-up.REC name
London - Bromley Research Ethics Committee
REC reference
18/LO/1366
Date of REC Opinion
17 Sep 2018
REC opinion
Further Information Favourable Opinion