Aquaporin-4 Single Nucleotide Polymorphisms in Patients With Idiopathic and Familial Parkinson's Disease

University of Exeter

Status: Active, not recruiting

Conditions: Parkinson Disease

Treatments: Other: Study procedure

Study type: Observational

Funder types: Other

Identifiers

NCT04553185

2020 21/02

Details and patient eligibility

About

The purpose of this study is to understand the relationship between problems in sleep, genetic variations in the Aquaporin-4 gene (AQP4), and the development of Parkinson's Disease.

Full description

Parkinson's Disease (PD) is a progressive neurodegenerative disease characterized by the abnormal deposition in the brain of aggregates called Lewy Bodies, packed with a protein called α-synuclein. The mechanisms why this protein accumulates in the brain of patients with PD, as well as its relationship with clinical symptoms, is unknown.

Recently, an internal mechanism of drainage of waste proteins called glymphatic system has been identified and characterized. This system is silent during wakefulness and works during sleep. When it is active, a virtual space between the blood capillaries and cells of the brain called astrocytes opens and lets out waste products from the brain. This process is mediated by a protein of the astrocytes called Aquaporin-4 (AQP4). Preclinical studies have shown that the function of this system could be critical for the clearance of β-amyloid, a protein linked with the development of Alzheimer'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 and α-synuclein.

In this study, the investigators 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.

Enrollment: 800 estimated patients

Sex: All

Ages: 18 to 85 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• 18-85 years of age
• Able to give informed consent
• Able to perform online neuropsychological examinations
• Diagnosis of PD according to Brain Bank Criteria
• No presence or personal or family history of other neurological or psychiatric disorders

Exclusion criteria

• Presence of other neurological disorders and known intracranial co-morbidities such as stroke, haemorrhage, space-occupying lesions
• Inability to perform online neuropsychological assessment
• Inability to have access to informatics technology to perform the online assessment tests
• Inability to travel for the assessments
• Native language different from English

Trial design

800 participants in 1 patient group

Parkinson's disease patients

Description:

Patients with idiopathic or familial Parkinson's disease

Treatment:

Other: Study procedure