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Recruiting NCT06291805

Phenotyping and Characterization of wtATTR-CM (TRACE 1)

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

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Transthyretin Amyloidosis, Transthyretin Amyloid Cardiomyopathy, Wild-Type Transthyretin-Related (ATTR)Amyloidosis, Quality of Life. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Denmark
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

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

Overview

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.

Detailed description

Hypothesis:

1. We hypothesize that more severe wild-type amyloidosis cardiomyopathy (ATTRwt-CM) according to clinical, biochemical, and diagnostic imaging parameters are correlated with worse quality of life (QoL) for patients. 2. We expect misfolded (misTTR) and/or fragmented transthyretin (fragTTR) to be measurable in plasma and/or urine and fragTTR to be detectable in endomyocardial biopsies from patients with ATTRwt-CM. We expect the values of misTTR and fragTTR to be correlated with the severity of ATTRwt-CM according to clinical, biochemical, and diagnostic imaging parameters. We expect the level of fragTTR from endomyocardial biopsies to be correlated with plasma levels of fragTTR.

Method:

ATTRwt-CM patients: Prospective inclusion of 100 consecutive ATTRwt-CM patients reflecting all NAC stages (40 patients from NAC disease stage 1, 40 patients from NAC disease stage II and 20 patients from NAC disease stage III). Patients will be recruited from the out-patient amyloidosis clinic at Aarhus University hospital. Patients will be thoroughly clinically assessed.

Control patients:

A control cohort of 20 age- and gender-matched heart-healthy patients will be included for comparison of total/mis-/fragTTR values.

The investigating into QoL, bio markers and the analyses on cardiac MR imaging markers will hopefully provide us with tools to evaluate and monitor disease progression and response to treatment.

Primary outcome measures

  • Investigation of cardiac amyloidosis severity in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy. [Time frame: Through study completion, 2 years.]
  • Investigation of the relations between cardiac amyloid severity and patient quality of life in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy. [Time frame: Through study completion, 2 years.]
  • Assessment of transthyretin and pathogenic fragments and relation to cardiac amyloid severity in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy [Time frame: Through study completion, 2 years.]
Secondary outcome measures (1)
  • Validation of a new amyloid specific questionnaire (ATTR-QoL) in comparison with Kansas City Cardiomyopathy Questionnaire (KCCQ) [Time frame: Through study completion, 2 years.]

Eligibility criteria

Group 1: wtATTR-CM patients

Inclusion criteria

  • 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

Exclusion criteria

  • AL amyloidosis (light-chain amyloidosis).
  • Myelomatosis
  • Waldenström macroglobulinemia

Group 2: Control group

Inclusion criteria

  • Patients > 18 years
  • Informed oral and written consent

Exclusion criteria

  • 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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

Denmark · 1 center
  • Aarhus University Hospital — Aarhus

Identifiers

NCT: NCT06291805 · 1-10-72-189-23

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗