Phenotyping and Characterization of wtATTR-CM (TRACE 1)

NCT06291805 | Recruiting DMC

• 1 other identifier: 1-10-72-189-23
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

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

Outcome Measures

Primary Outcomes (3)

• Investigation of cardiac amyloidosis severity in patients with Wild-type Transthyretin Amyloidosis Cardiomyopathy.

  Amyloid severity will be addressed using primarily NAC-stages and NYHA-class. Furthermore, we will use NT-pro-BNP, findings on echo (stroke volume, ejectionfraction and global longitudional strain) and finding on CMRI (LV mass, T1 myocardial values and extracellular volume).

  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.

  Quality of life will be addressed using KCCQ summary score, EQ-5D Utility score and VAS ranging score and ATTR-QOL total score.

  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

  Transthyretin (TTR) will be measured as follows: total TTR, misfolded TTR and fragmented TTR in plasma and misfolded TTR and fragmented TTR in urine.

  Through study completion, 2 years.

Secondary Outcomes (1)

• Validation of a new amyloid specific questionnaire (ATTR-QoL) in comparison with Kansas City Cardiomyopathy Questionnaire (KCCQ)

  Through study completion, 2 years.

Study Arms (2)

wtATTR-CM patients (n = 100)

Clinical history, physical examination, ECG, advanced echocardiography, blood and urine samples, cardiac magnetic resonance imaging (CMRI), and QoL questionaires (KCCQ, EQ-5Q-5L and ATTR-QoL)). Subgroup with these patient (n = 10): A endomyocardial biopsy.

Control (n = 20)

Blood and urine samples. To rule out cardiac disease: clinical history, physical examination, ECG and advanced echocardiography.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Including variating severity of wtATTR-CM by including 40 patients with NAC stage 1, 40 patients with NAC stage 2, and 20 patients with NAC stage 3. Furthermore, including a healthy control group in order to examine normal values of mis- and frag-TTR

You may qualify if:

• 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

You may not qualify if:

• AL amyloidosis (light-chain amyloidosis).
• Myelomatosis
• Waldenström macroglobulinemia
• Group 2: Control group
• Patients \> 18 years
• Informed oral and written consent
• 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)

Sponsors & Collaborators

• Steen Hvitfeldt Poulsen: lead
• Novo Nordisk A/S: collaborator

Study Sites (1)

Aarhus University Hospital

Aarhus, Arrhus N, 8200, Denmark

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Whole blod and endomyocardial biopsies. No DNA test are made.

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-Related

Central Study Contacts

Sie Kronborg Fensman, MD

CONTACT

+45 30 48 88 85; siefensman@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor, DMSc.

Study Record Dates

• First Submitted: January 30, 2024
• First Posted: March 4, 2024
• Study Start: February 20, 2024
• Primary Completion: December 1, 2025
• Study Completion: December 1, 2025
• Last Updated: August 15, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)