New Biomarkers and Plasma Prothrombotic Potential in Cardiac Transthyretin Amyloidosis

Launched by JOHN PAUL II HOSPITAL, KRAKOW · Apr 2, 2024

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Transthyretin Amyloidosis (ATTR), which affects the heart by causing harmful proteins to build up in heart tissue. Researchers want to learn more about specific markers in the blood that could help identify the disease, especially in people who carry a genetic variant linked to ATTR but don’t yet show symptoms. The goal is to see if these markers can help doctors diagnose the disease earlier and understand if patients are at risk of blood clotting problems, which is a concern with this condition.

The study is looking for participants who are at least 18 years old, including those diagnosed with ATTR cardiomyopathy, asymptomatic carriers of a gene variant associated with the disease, and healthy individuals without the disease or gene variant. Participants will undergo blood tests to measure various biomarkers and assess their heart function. By taking part, individuals will contribute to important research that could lead to better diagnosis and treatment options for ATTR patients in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • the study will include consecutive patients diagnosed with ATTR cardiomyopathy (GROUP 1, n=30), asymptomatic carriers of pathogenic TTR variants (GROUP 2, n=30), and a matched control group of healthy volunteers (GROUP 3, n=20)
• • 1. age over 18
• • 2. expressing informed written consent
• 3. clinical criteria (one of the following for a given group):
• • 1. ATTR cardiomyopathy (GROUP 1),
• • 2. asymptomatic carrier of the pathogenic variant of the TTR gene (GROUP 2),
• • 3. no diagnosed ATTR cardiomyopathy and no pathogenic variant of the TTR gene (GROUP 3).
• Exclusion criteria:
• • 1. age under 18 years of age
• • 2. failure to provide informed written consent
• • 3. pregnancy and lactation
• Exclusion Criteria: