Using tiny blood particles to detect and track ATTR heart amyloidosis

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

This project will test whether tiny blood particles called extracellular vesicles can help detect and track transthyretin (ATTR) amyloid cardiomyopathy in people with or at risk for ATTR.

Quick facts

• Study type: Observational
• Enrollment: 70 (estimated)
• Ages: 18 Years and up
• Sex: All
• Sponsor: University of Sao Paulo General Hospital (Academic / other)
• Locations: 1 site (São Paulo, São Paulo)
• Trial ID: NCT07314268 on ClinicalTrials.gov

What this trial studies

This prospective observational study will enroll 70 adults divided into four groups: ATTR-CM with myocardial dysfunction, hereditary ATTR with mainly neurologic involvement, genotype-positive individuals without symptoms, and healthy controls. All participants will provide blood for isolation and molecular profiling of extracellular vesicles (EVs), and participants with cardiac involvement will receive standardized echocardiography, cardiac MRI, and nuclear imaging when indicated. Investigators will compare EV protein and molecular signatures with imaging findings, clinical status, and laboratory measures to determine whether EVs reflect early cardiac involvement or disease progression. The aim is to identify minimally invasive EV biomarkers to improve timely diagnosis and risk stratification in ATTR-CM.

Who should consider this trial

Good fit: Ideal participants are adults (18+) with confirmed transthyretin cardiac amyloidosis, people with hereditary ATTR (predominantly neurologic), genotype-positive individuals without symptoms, and healthy volunteers willing to undergo blood draws and cardiac imaging as needed.

Not a fit: Patients with other major cardiac conditions (for example severe coronary artery disease or significant valvular disease) or those unable to attend imaging visits or provide informed consent are unlikely to benefit or be eligible.

Why it matters

Potential benefit: If successful, this could lead to a simple blood-based test that detects ATTR cardiac involvement earlier and helps guide treatment decisions.

How similar studies have performed: Early EV biomarker studies in other cardiac and systemic diseases have shown promise, but applying EV profiling specifically to ATTR-CM is relatively novel and not yet clinically validated.

Eligibility criteria

Inclusion Criteria:

* Adult patients aged 18 years or older;
* Confirmed diagnosis of transthyretin cardiac amyloidosis (TTR-CA), with or without myocardial dysfunction, according to established diagnostic criteria;
* Willingness to comply with study procedures and requirements;
* Ability to provide written informed consent.

Exclusion Criteria:

* Presence of other significant cardiac conditions that may interfere with study outcomes, such as severe coronary artery disease or major valvular disease;
* Inability to provide informed consent or to participate in the required clinical assessments and examinations.

Where this trial is running

São Paulo, São Paulo

• Instituto do Coracao, HCFMUSP — São Paulo, São Paulo, Brazil (Recruiting)

Study contacts

• Study coordinator: Felix Jose A Ramires, MD, PhD

Conditions Wild-type ATTR Amyloidosis; Amyloidosis Cardiac; Amyloidosis, Hereditary; Amyloidosis Transthyretin; Early Diagnosis; Serum Biomarkers; Transthyretin Amyloid Cardiomyopathy; ATTR