Identifying Biomarkers in Familial Small Vessel Disease

As part of our group’s UK Familial Stroke Study, we collect blood samples from participants. In this smaller study, we are looking at the levels of different proteins and metabolites in these blood samples. Proteins are molecules within our body responsible for almost every biological process. As they do their jobs, they go through various changes and chemical reactions that produce smaller molecules called metabolites. Because proteins and metabolites reflect what’s happening in the body, they can provide valuable insight into the effects of genetic mutations—such as those that cause familial small vessel disease.

In this study we will examine whether the levels of certain proteins and metabolites are linked to, or may even predict, clinical outcomes, cognitive performance, and imaging features.

Our aims are to:

1. Identify blood-based biomarkers that can monitor how severe the disease is and how it changes over time in patients carrying genetic variants typically associated with familial small vessel disease (e.g., NOTCH3, HTRA1, COL4A1/2).
2. Develop a model that integrates information from blood-based biomarkers with clinical data and brain scans to help predict if and when someone might develop symptoms, such as stroke or dementia, and how severe these might be.

This work will directly contribute to more personalised care for patients and support the development of new treatments that slow the progression of familial small vessel disease.

This study is funded by the Stroke Association.