International Cardiac Amyloidosis Registry

NCT ID: NCT06894290

Last Updated: 2025-03-25

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-06-30
• Study Completion Date: 2026-07-31

Brief Summary

Cardiac amyloidosis is a relatively rare disease. However, with the newer imaging techniques that have become available to us in recent years, determining the diagnosis is becoming more common. There are several variants. Each variant involves protein accumulation between heart muscle cells. This leads to the heart stiffening and, as a result, the heart has a hard time filling. This can lead to heart failure with complaints such as fluid retention, cardiac arrhythmias such as atrial fibrillation, conduction abnormalities that sometimes require a pacemaker, and clot formation in the heart that can cause a stroke and narrowing of the aortic valve. Getting the correct diagnosis is important because specific treatment is available in some cases for the different variants of cardiac amyloidosis. This research is needed to better understand the course of this disease profile and which patients respond well to the specific treatment.

The aim of this research is to find out more about the course of the cardiac amyloidosis disease. The investigators see to what extent patients deteriorate in their condition due to the disease and how often they need to be hospitalized. Furthermore, the investigators want to learn to what extent certain abnormalities (on e.g. cardiac ultrasound) can predict how quickly clinical deterioration occurs. Finally, for certain forms of cardiac amyloidosis there is a specific drug treatment. Through this research, the investigators want to try to determine who really benefits from the specific medication in order to prescribe it to the right patients.

Detailed Description

Rationale: Patients with cardiac amyloidosis are in general underdiagnosed and undertreated. AL amyloidosis is a disease with a very poor prognosis if left untreated. For ATTR amyloidosis, recently, specific treatment has become available for patients fulfilling certain criteria with good results in clinical trials. The rationale behind this prospective registry is to collect real-world data on diagnostic process, management, progression of disease and outcome of patients with cardiac AL and ATTR amyloidosis who are treated following local standards and to obtain (echocardiographic) predictors of prognosis in these patients.

Objective: The objective of the study is to evaluate the diagnostic process from onset symptoms to diagnosis, the outcome in a real-world cohort of amyloidosis patients and to find predictors (both clinical and echocardiographic) of outcome Study design: Prospective long-term observational study Study population: All patients >18 years old, prospectively diagnosed with cardiac AL or ATTR amyloidosis Intervention (if applicable): n/a Main study parameters/endpoints: The main study endpoints are death, heart failure hospitalization and cardiovascular events Nature and extent of the burden and risks associated with participation, benefit and group relatedness: Patients who participate in the registry will undergo structured follow up according to the clinical care pathway for amyloidosis patients based on the recommendations in the most recent Position Statement from the European Society of Cardiology [1]. There will be no additional visits planned, therefore no additional burden is associated with participation in the registry. Patients agree that their anonymized data is shared with other centers within the amyloidosis consortium.

Conditions

Cardiac Amyloidosis

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Study Groups

CA

Patients diagnosed with cardiac amyloidosis. Either ATTR-CA or AL-CA.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

Diagnosed with AL or ATTR cardiac amyloidosis following the recommendations of the European Society of Cardiology [1] which include:

Signs and symptoms, ECG, echo or CMR suggestive of cardiac amyloidosis and

• negative hematological test and bone scintigraphy Perugini stage 2 or 3 (is diagnostic for ATTR amyloidosis)
• negative hematological test and bone scintigraphy Perugini stage 1 and histological confirmation (either extracardiac or cardiac biopsy) with subtyping of ATTR amyloidosis
• positive hematological test and bone scintigraphy Perugini stage 1-3 and histological confirmation (usually cardiac biopsy) with subtyping of ATTR amyloidosis
• positive hematological rest and bone scintigraphy Perugini stage 0, MRI consistent with amyloidosis and histological confirmation (either extracardiac or cardiac biopsy) with subtyping AL amyloidosis

Exclusion Criteria

• Unable to provide informed consent due to insufficient language proficiency or intellectual capabilities

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Pfizer

INDUSTRY

Sponsor Role: collaborator

Leiden University Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Nina Ajmone Marsan

MD, PhD

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Nina Ajmone Marsan, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Leiden University Medical Center

Locations

AZ St Jan

Bruges, , Belgium

Site Status: RECRUITING

UZ Antwerpen

Edegem, , Belgium

Site Status: RECRUITING

Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Roma

Roma, , Italy

Site Status: RECRUITING

Kitasato University Hospital

Sagamihara, , Japan

Site Status: RECRUITING

Leiden University Medical Center

Leiden, , Netherlands

Site Status: RECRUITING

Santa Marta Hospital, CHULC, Lisbon

Lisbon, , Portugal

Site Status: RECRUITING

Countries

Belgium; Italy; Japan; Netherlands; Portugal

Central Contacts

Nina Ajmone Marsan, MD, PhD

Role: CONTACT

N.ajmone@lumc.nl

+31715262020

Madelien Regeer, MD, PhD

Role: CONTACT

m.v.regeer@lumc.nl

+31715262020

Facility Contacts

Philippe Debonnaire, MD, PhD

Role: primary

Philippe.Debonnaire@azsintjan.be

+32 50 45 21 11

Victor Sarli Issa, MD

Role: primary

VictorSarli.Issa@uza.be

+32 3 821 30 00

Francesca Graziani, MD, PhD

Role: primary

francesca.graziani@policlinicogemelli.it

+39 06 30151

Takeru Nabeta, MD

Role: primary

takerunabeta@gmail.com

+81 42-778-8111

Nina Ajmone Marsan, MD, PhD

Role: primary

n.ajmone@lumc.nl

+31715262020

Ana Timoteo, MD, PhD

Role: primary

ana_timoteo@yahoo.com

+351 21 359 4000

References

Bukhari S, Khan SZ, Bashir Z. Atrial Fibrillation, Thromboembolic Risk, and Anticoagulation in Cardiac Amyloidosis: A Review. J Card Fail. 2023 Jan;29(1):76-86. doi: 10.1016/j.cardfail.2022.08.008. Epub 2022 Sep 17.

Reference Type: BACKGROUND

PMID: 36122817 (View on PubMed)

Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, Kristen AV, Grogan M, Witteles R, Damy T, Drachman BM, Shah SJ, Hanna M, Judge DP, Barsdorf AI, Huber P, Patterson TA, Riley S, Schumacher J, Stewart M, Sultan MB, Rapezzi C; ATTR-ACT Study Investigators. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med. 2018 Sep 13;379(11):1007-1016. doi: 10.1056/NEJMoa1805689. Epub 2018 Aug 27.

Reference Type: BACKGROUND

PMID: 30145929 (View on PubMed)

Garcia-Pavia P, Rapezzi C, Adler Y, Arad M, Basso C, Brucato A, Burazor I, Caforio ALP, Damy T, Eriksson U, Fontana M, Gillmore JD, Gonzalez-Lopez E, Grogan M, Heymans S, Imazio M, Kindermann I, Kristen AV, Maurer MS, Merlini G, Pantazis A, Pankuweit S, Rigopoulos AG, Linhart A. Diagnosis and treatment of cardiac amyloidosis. A position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur J Heart Fail. 2021 Apr;23(4):512-526. doi: 10.1002/ejhf.2140. Epub 2021 Apr 7.

Reference Type: BACKGROUND

PMID: 33826207 (View on PubMed)

Other Identifiers

ICAR

Identifier Type: -

Identifier Source: org_study_id