Screening, Characterization, and Longitudinal Follow-up of Patients With Cardiac Amyloidosis

Cardiac amyloidosis is a progressive disorder caused by extracellular deposition of amyloid fibrils in the heart, leading to heart failure and impaired cardiac function. Early diagnosis and targeted therapies are essential to improve patient outcomes. This prospective, single-center study aims to longitudinally follow patients with suspected cardiac amyloidosis to characterize disease progression and assess treatment effects. Participants will undergo cardiac magnetic resonance imaging (resting and exercise stress MRI), magnetic resonance spectroscopy, cardiopulmonary exercise testing (spiroergometry) and blood testing at baseline and at 6, 12, and 24 months

Study Overview

• Status: Not yet recruiting
• Conditions: Heart Failure; Diagnosis; Cardiac MRI; Amyloidosis Cardiac; Phenotyping; Spectroscopic Analysis

Detailed Description

This study is designed to longitudinally evaluate patients with cardiac amyloidosis. Patients undergoing clinically indicated diagnostic work-up for amyloidosis prior to initiation of specific therapy.

Participants will undergo comprehensive baseline assessments including resting cardiac MRI, exercise stress MRI, magnetic resonance spectroscopy, pulmonary function testing, cardiopulmonary exercise testing (spiroergometry) as well as blood testing including biomarkers relevant to cardiac amyloidosis (e.g., NT-proBNP, troponin, serum free light chains, immunofixation, and other routine laboratory parameters). Patients will be seen at 3 and 9 months as part of routine clinical care. Study-specific assessments, including imaging and functional testing, will be performed at 6, 12, and 24 months. Imaging, functional and laboratory findings will be correlated with clinical characteristics, laboratory parameters, and treatment over time to improve disease characterization, monitoring, and understanding of disease progression in cardiac amyloidosis.

The study aims to systematically characterize cardiac structure and function, disease phenotype, and clinical status, and to assess their evolution over time. Additional data collected within the study will not influence clinical management and are intended solely for scientific analysis.

The overall objective is to improve understanding of disease progression and treatment effects through comprehensive phenotyping and follow-up in a real-world clinical setting

• Study Type: Observational
• Enrollment (Estimated): 200

Contacts and Locations

• Study Contact: Name: Fabian Voß, MD; Phone Number: 02118105187; Email: ctu@med.uni-duesseldorf.de
• Study Contact Backup: Name: Saskia Pietrucha, M.Sc.; Email: ctu@med.uni-duesseldorf.de

Study Locations

• Germany
  • North Rhine-Westphalia
    • Düsseldorf, North Rhine-Westphalia, Germany, 40225
      • University Hospital Duesseldorf
      • Contact: Saskia Pietrucha, M.Sc.; Phone Number: + 49211 81 05187; Email: ctu@med.uni-duesseldorf.de
      • Contact: Fabian Voß, MD; Phone Number: 02118105187; Email: ctu@med.uni-duesseldorf.de
      • Principal Investigator: Fabian Voß, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients with Cardiac Amyloidosis

Description

Inclusion Criteria:

• Age > 18 years
• Male and female patients undergoing clinically indicated diagnostic work-up for amyloidosis or with a previously confirmed diagnosis of cardiac amyloidosis prior to initiation of therapy
• Presence of left ventricular wall thickness > 12 mm on transthoracic echocardiography and at least one "red flag" suggestive of cardiac amyloidosis (according to ESC 2021 criteria) or an otherwise clinically established suspicion of amyloidosis
• Written informed consent

Exclusion Criteria:

• Age < 18 years
• Contraindications to cardiac MRI (e.g., metallic foreign bodies, older-generation pacemakers, severe obesity, claustrophobia)
• Lack of written informed consent for study participation
• Inability to comply with the study procedures

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Changes in myocardial structural parameters	measured by Cardiac Magnetic Resonance Tomography	after 6 and 12 months
Changes in myocardial function	measured by cardiac magnetic resonance	after 6 and 12 months
Changes in myocardial metabolism under therapy	measured by MR spectroscopy	after 6 and 12 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Changes in heart rate reserve	measured by functional exercise testing	after 6 and 12 months

Collaborators and Investigators

• Sponsor: Heinrich-Heine University, Duesseldorf
• Investigators: Study Director: Malte Kelm, MD, Division of Cardiology, Pulmonary Disease and Vascular Medicine at University Hospital Duesseldorf; Study Chair: Amin Polzin, MD, Division of Cardiology, Pulmonary Disease and Vascular Medicine at University Hospital Duesseldorf

Study record dates

Study Major Dates

• Study Start (Estimated): June 15, 2026
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029

Study Registration Dates

• First Submitted: May 4, 2026
• First Submitted That Met QC Criteria: May 4, 2026
• First Posted (Actual): May 11, 2026

Study Record Updates

• Last Update Posted (Actual): May 11, 2026
• Last Update Submitted That Met QC Criteria: May 4, 2026
• Last Verified: May 1, 2026

More Information

Terms related to this study

• Keywords: Disease Progression; Cardiac MRI; Spirometry; Longitudinal Study; Cardiopulmonary Exercise Testing; Exercise MRI; Magnetic Resonace Spectroscopy; Treatment Monitoring
• Additional Relevant MeSH Terms: Nervous System Diseases; Cardiovascular Diseases; Pathologic Processes; Heart Diseases; Neuromuscular Diseases; Disease Attributes; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Peripheral Nervous System Diseases; Neurodegenerative Diseases; Heredodegenerative Disorders, Nervous System; Proteostasis Deficiencies; Amyloid Neuropathies; Amyloidosis, Familial; Amyloidosis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Heart Failure; Disease; Disease Progression; Amyloid Neuropathies, Familial
• Other Study ID Numbers: Cardiac Amyloidosis

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No