Study of Extracellular Vesicles as Early Markers and Prognostic Tools in Transthyretin Amyloid Cardiomyopathy

What this Trial Is About

Researchers are investigating whether tiny particles called extracellular vesicles EVs, released into the bloodstream by cells, can be used as early and less invasive markers for transthyretin amyloid cardiomyopathy ATTR-CM. This condition often goes undiagnosed until significant heart damage occurs, so finding early detection methods is important. The study includes individuals with different forms of transthyretin amyloidosis and healthy controls to better understand disease stages. The study will enroll 70 adults divided into four groups those with ATTR-CM and heart dysfunction, hereditary ATTR with mainly neurological symptoms, people with the gene but no symptoms, and healthy volunteers. All participants will provide blood samples for EV analysis. Those with heart involvement will also have cardiac imaging tests like echocardiography, cardiac MRI, and scintigraphy when needed to assess heart function and disease extent. Participants will undergo clinical evaluations, blood tests, imaging, and functional assessments to compare EV profiles with heart health and disease progression. The main measurements focus on EV concentration and protein profiles in the blood at the start. Researchers will look for links between EV characteristics and imaging results to see if EVs can help improve diagnosis and track changes in ATTR amyloidosis over time.

ATTR Amyloid Cardiomyopathy: Characterization of Extracellular Vesicles as Potential Disease Stratifiers and Prognostic Biomarkers