RecruitingNCT06291805

Phenotyping and Characterization of wtATTR-CM (TRACE 1)

Phenotyping and Characterization of Danish Wild-type Transthyretin Amyloidosis Cardiomyopathy Patients: A Cross-sectional Study

Sponsor

Steen Hvitfeldt Poulsen

Enrollment

120 participants

Start Date

Feb 20, 2024

Study Type

OBSERVATIONAL

Conditions

Quality of Life Transthyretin Amyloid Cardiomyopathy Transthyretin Amyloidosis Wild-Type Transthyretin-Related (ATTR)Amyloidosis

Summary

Descriptive cross-sectional study on 100 consecutive ATTRwt-CM patients reflecting all NAC stages aiming primarily to investigate ATTRwt-CM patient's quality of life (QoL) measures and their relation to ATTRwt-CM severity. Secondarily aiming to investigate the possibility to measure misTTR and fragTTR in plasma and urine and to detect fragTTR in endomyocardial biopsies from ATTRwt-CM patients. To investigate whether misTTR and fragTTR levels are correlated with ATTRwt-CM severity.

Eligibility

Min Age: 18 Years

Inclusion Criteria7

Group 1: wtATTR-CM patients
Patients \> 18 years diagnosed with ATTRwt-CM by:
endomyocardial biopsy
DPD scintigraphy with Perugini grade 2-3 where variant amyloidosis is ruled out due to genetic testing.
Informed oral and written consent
Patients \> 18 years
Informed oral and written consent

Exclusion Criteria16

AL amyloidosis (light-chain amyloidosis).
Myelomatosis
Waldenström macroglobulinemia
Group 2: Control group
Known cardiovascular disease including ischemic heart disease, heart failure, atrial fibrillation, presence of a pacemaker, or malignant hypertension. Well-controlled hypertension is acceptable.
Suspicion of cardiac amyloidosis assessed through clinical history, physical examination, ECG, and echocardiography focusing on "red flags":
Echocardiography with:
Myocardial hypertrophy (septum \>11 mm)
Apical sparing in LV-GLS
Infiltrative changes in the right ventricle free wall, thickened atrioventricular valves, or thickened atrial septum
Symptoms of polyneuropathy
Low voltage on ECG or discrepancy between left ventricular thickness and ECG amplitude indicative of low voltage
Atrioventricular block (AV block)
Bilateral carpal tunnel syndrome
Surgery for spinal stenosis
Elevated troponin I or NT-pro-BNP