Ignite Creation Date:
2024-05-06 @ 3:12 PM
Last Modification Date:
2024-10-26 @ 1:45 PM
Study NCT ID:
NCT04553185
Status:
RECRUITING
Last Update Posted:
2023-12-01
First Post:
2020-08-26
Brief Title:
Aquaporin-4 Single Nucleotide Polymorphisms in Patients With Idiopathic and Familial Parkinsons Disease
Sponsor:
University of Exeter
Organization:
University of Exeter
Study Overview
Official Title:
Study on the Effects of Single Nucleotide Polymorphisms in Aquaporin-4 AQP4 Gene on the Clinical Phenotype in Patients With Idiopathic and Familial Parkinsons Disease
Status:
RECRUITING
Status Verified Date:
2023-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 Parkinsons Disease
Detailed Description:
Parkinsons 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 Alzheimers 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 Alzheimers Disease However no studies in humans have ever been performed in Parkinsons 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 Parkinsons 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
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 Alzheimers 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 Alzheimers Disease However no studies in humans have ever been performed in Parkinsons 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 Parkinsons 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
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None