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

NCT04553185 | Active Not Recruiting

• 1 other identifier: 2020 21/02
• Study Type: observational
• Target: 800
• Locations: 1 country
• Sites: 4

Brief Summary

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.

Conditions

Parkinson Disease

Keywords

Parkinson's disease; AQP4; Glymphatic System; Genetics

Outcome Measures

Primary Outcomes (4)

• Association between genetic variations in the AQP4 gene and worse motor symptoms in PD patients

  The presence of genetic variations in the AQP4 gene, measured with single nucleotide polymorphisms will be correlated, in idiopathic and familial PD patients, with higher (worse) scores on the Hoehn \& Yahr scales

  Up to 36 months

• Association between genetic variations in the AQP4 gene and worse cognitive symptoms in PD patients

  The presence of genetic variations in the AQP4 gene, measured with single nucleotide polymorphisms will be correlated, in idiopathic and familial PD patients, with lower (worse) scores on Montreal Cognitive Assessment (MoCA) scale

  Up to 36 months

• Association between genetic variations in the AQP4 gene and worse sleep symptoms in PD patients

  The presence of genetic variations in the AQP4 gene, measured with single nucleotide polymorphisms will be correlated, in idiopathic and familial PD patients, with worse sleep performances as assessed with sleep scales and Actigraph

  Up to 36 months

• Association between genetic variations in the AQP4 gene and worse non-motor symptoms in PD patients

  The presence of genetic variations in the AQP4 gene, measured with single nucleotide polymorphisms will be correlated, in idiopathic and familial PD patients, with higher (worse) scores on scales for non-motor symptoms.

  Up to 36 months

Secondary Outcomes (3)

• Association between genetic variations in the AQP4 gene and altered levels of glymphatic system markers in PD patients

  Up to completion of study

• Association between genetic variations in the AQP4 gene and altered levels of astrocytic

  Up to completion of study

• Association between genetic variations in the AQP4 gene and altered levels of protein aggregation markers in PD patients

  Up to completion of study

Study Arms (1)

Parkinson's disease patients

Patients with idiopathic or familial Parkinson's disease

Other: Study procedure

Interventions

Study procedure OTHER

All participants will undergo a collection of demographic data, personal and family history for PD, a neurological examination and administration of clinical scales. All participants will undergo a collection of venous blood sample. At the end of the visit they will receive a wristwatch to monitor their sleep at home (Actigraph) and a sleep diary, together with a prepaid envelope to post the watch and the diary back to the investigators. They will also receive a link for a series of online tests for non-motor symptoms related to Parkinson's disease that they can complete remotely at home.

Parkinson's disease patients

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with a diagnosis of Parkinson's disease according to Published Criteria.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Exeter: lead

Study Sites (4)

East Kent University Hospitals NHS Foundation Trust

Ashford, United Kingdom

Location

University of Exeter

Exeter, SE16 7RJ, United Kingdom

Location

Prince Phillip Hospital

Llanelli, United Kingdom

Location

Lewisham and Greenwich NHS Foundation Trust

London, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

A venous sample will be collected from all participants. The venous sample will serve for genetic testing for Single Nucleotide Polymorphisms in the Aquaporin-4 gene and genetic testing for mutations in the following Parkinson's disease-related genes SNCA, LRRK2, VPS35, PARK2, PINK1, DJ-1, SYNJ1, DNAJ6, FBXO7, PLA2G6, LRP10, GBA and MAPT in a cohort of PD patients, as well as for the determination in the blood of the levels of the following substances: α-synuclein (total and oligofragmented), S100β, LRP1, and ABCB1.

MeSH Terms

Conditions

Parkinson Disease

Interventions

Methods

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Intervention Hierarchy (Ancestors)

Investigative Techniques

Study Officials

• Marios Politis, MD MSc PhD

  University of Exeter

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 26, 2020
• First Posted: September 17, 2020
• Study Start: November 28, 2018
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: October 7, 2025

Record last verified: 2025-10

Data Sharing

• IPD Sharing: Will not share

Locations

GB (4)