Biomarkers of Genetic SVD
Research type
Research Study
Full title
Biomarker Identification for Genetic Small Vessel Diseases
IRAS ID
301629
Contact name
Tao Wang
Contact email
Sponsor organisation
The University of Manchester
Clinicaltrials.gov Identifier
N/A., N/A.
Duration of Study in the UK
3 years, 0 months, 1 days
Research summary
Genetic small vessel disease (SVD) is a group of conditions that caused by variants in certain genes and mainly affect small blood vessels in the brain, leading to stroke and dementia. We do not fully understand how the gene variants result in vascular pathology and then damage the brain, therefore, no specific treatment available for this group of diseases. Our brain is made up of many different types of cells including neurons, vascular cells and immune cells that coordinate to maintain proper brain function. These cells will likely damage in SVD, which usually releases specific molecules, so-called “biomarkers”, to the bloodstream which may dictate the brain damage in early stage of the disease and could also be used to monitor the effectiveness of any treatments or even as a drug target to develop future therapies. To date, there have not been any specific and reliable biomarkers identified for SVD, therefore, this study is designed to collect blood samples from genetic SVD patients who carry a genetic variant for biomarker identification. On a small number of patients, i.e., 1 or 2 patients from each type of genetic SVD, we will develop stem cells from a small skin biopsy and then produce vessel and neural cells in a dish in the laboratory to understand the secretion and function of the biomarkers. We will be recruiting genetic SVD patients from the SVD clinic at Salford Royal where full information about the study will be provided and take consent. Then we will spend 5-10 minutes to take a blood samples or skin biopsy. The specific biomarkers that dictate brain damage may also be generalised to the common dementia like Alzheimer’s disease and complex sporadic SVDs caused by aging related conditions like hypertension, atherosclerosis, or diabetes, and could potentially be used for early diagnosis and prediction or monitoring disease progression of SVDs in general.
REC name
North West - Greater Manchester South Research Ethics Committee
REC reference
24/NW/0307
Date of REC Opinion
5 Dec 2024
REC opinion
Further Information Favourable Opinion