ClinicalTrials.gov record NCT06607471

Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.The registry record was last updated on Sep 23, 2024, about 2 years ago, so the status shown may be out of date. The study team or the registry can confirm.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationItaly
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A multicenter observational registry collecting retrospective and prospective data on patients with suspected or proven non‑ischemic cardiomyopathies. Participants are grouped by arrhythmic presentation and by presence or absence of myocardial inflammation. The study records imaging, genetic tests, biopsies, electrophysiology, treatments and long‑term clinical outcomes, with planned follow‑up up to 30 years.

What it is studying. Whether a multimodal, multidisciplinary collection of clinical, imaging, genetic, biopsy and electrophysiology data can define arrhythmic and inflammatory phenotypes within non‑ischemic cardiomyopathies. The study also aims to compare diagnostic methods, measure how common myocardial inflammation is across NICMs, identify genotype‑phenotype and arrhythmia correlations, and create risk and treatment‑response models.

What the researchers hope to learn. Scientific goals: to compare diagnostic accuracy across multimodal techniques; to measure prevalence and patterns of myocardial inflammation; to define disease‑specific diagnostic and prognostic signatures (genotype, imaging, arrhythmia, inflammation); to build and validate risk scores for arrhythmic and clinical outcomes; to compare real‑world safety and outcomes of different treatment strategies (devices, drugs, ablation, immunomodulation and etiology‑specific therapies); and to inform indications and timing for interventions such as device implant or ablation in different NICM subgroups.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Non-ischemic cardiomyopathies (NICM) represent a heterogeneous group of pathologies characterized by absence of obstructive disease of the epicardial coronary vessels and distinct structural and functional changes of the myocardium. The main identified forms include dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and arrhythmogenic cardiomyopathy proper (ACM). More recently, further forms of cardiomyopathy have been described, less common and not uniquely classifiable, including: uncompressed myocardium (LVNC), peripartum cardiomyopathy (PPCM), structural correlates of arrhythmogenic mitral valve prolapse (AMVP), Anderson-Fabry disease (AFD), NICM associated with multi- system neuromuscular or autoimmune diseases, lysosomal diseases, glycogenosis, mitochondrial cytopathies and canal diseases with structural substrates. Finally, there are "overlap" forms, characterized by the sharing in the same subject of characteristic aspects of two or more of the above- mentioned diseases; and of the "undefined" forms, which to date do not reach the diagnostic criteria for any of the above-mentioned diseases. To the best of current knowledge, there are two points discovered in scientific research, namely the description of the arrhythmogenic and "inflammatory" phenotypes in a broad sense, which are summarized here with the acronym AINICM. In detail:

  • Arrhythmic manifestations account for the arrhythmogenic component of AINICM, which is not limited to ACM proper. In fact, most of the above diseases have a non-arrhythmic clinical presentation and a prevailing tendency to evolve towards a picture of cardiovascular decompensation. Although sudden arrhythmic death has been described throughout the spectrum of AINICM, early arrhythmic manifestations of such diseases have an unknown prevalence, an uncertain association with different disease genotypes and phenotypes, and still uncertain predictivity of long-term arrhythmic risk. At the same time, optimal diagnostic and therapeutic pathways in arrhythmias associated with AINICM are still being studied.
  • Myocardial inflammation (M-Infl) accounts for the inflammatory component of AINICM, and has recently been described in association with many AINICM on a genetic basis, including undefined and arrhythmic forms. The data is of high interest not only in the diagnostic, but also in prognostic and therapeutic field. In fact, on the one hand the presence of M-Infl seems to have a physio- pathological role in AINICM; on the other, as already known in myocarditis, the optimal therapeutic paths of arrhythmias may differ in patients with and without M-Infl; in particular, also in the light of the preliminary data available in adult and paediatric AINICM, the inflammatory forms are expected to respond better to immunosuppressive therapy, the arrhythmogenic ones to an ablative therapy with frequent need of implantation of cardiac devices.

Based on the clinical presentation, NICM patients will be divided into arrhythmic (AINICM) and non-arrhythmic patients as study and control groups , respectively. The AINICM group will include presentation with ventricular fibrillation (VF), either sustained or non-sustained ventricular tachycardia (VT; NSVT), frequent premature ventricular complexes (PVC), supraventricular arrhythmias (SVA) and bradyarrhythmias (BA). Clinical presentations other than arrhythmic, including chest pain and heart failure, will define the control group. In parallel, as shown in Figure 1, patients with any evidence of M-Infl will be compared with those showing no signs of M-Infl.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Other
  • Support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation
  • Support treatment, cardiac medical treatment, aetiology-specific treatment

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Written informed consent. For pediatric patients, consent will be obtained by parents, according to the laws applicable in each of the participating countries.
  • Clinical suspicion of NICM, and/or proven diagnosis of any NICM and/or genotype consistent with any NICM.
  • NICMs will include but not limit to: DCM, HCM, RCM, ACM, inflammatory, infiltrative, dysmetabolic, mitochondrial, toxic, neuromuscular, rheumatologic/autoimmune cardiomyopathies, channelopathies with structural substrates, LVNC, PPCM, AMVP, AFD, athlete's heart, undefined and overlap cardiomyopathies. Additional diseases of the NICM spectrum will be included in parallel with the advance of the current knowledge.

Exclusion criteria

  • Absent informed consent.
  • Proven diagnosis of cardiac disease alternative to NICM.
  • Lack of diagnostic workup suitable for diagnosing NICM, detecting arrhythmias, or detecting M-Infl.
  • For patients retrospectively enrolled: lack of active status of follow-up at the enrolling center.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

This study aims to collect clinical data of both retrospective and prospective patients with suspected or proven NICMs in a registry. The scope of the registry is to answer multiple unsolved questions in the field of AINICM as described below:

  • Improving the diagnostic workup. While genetic test and cardiac magnetic resonance (CMR) constitute the gold standard dagnostic techniques for NICM, it is known that; A) the yield of genetic test is low in NICM; B) the diagnostic performance of CMR may be limited in AINICM, because of cardiac device-related artifacts and/or irregular heartbeat. In this setting, alternative diagnostic techniques, namely computed tomography (CT) scan, positron emission tomography (PET), electroanatomical map (EAM) and endomyocardial biopsy (EMB) may be clinically helpful, as recommended for the investigation of many arrhythmogenic substrates.
  • Identifying disease-specific signatures. Genotype-phenoype associations are expected to benefit from a multimodal and multiparametric approach, in order to allow etiology-specific features in AINICM. Most of the current signatures are limited to combined genotype-CMR studies. Signatures would likely benefit from implementing additional parameters, including arrhythmia features and myocadial inflammatory status.
  • Working our models for risk prediction. Outcomes and arrhythmic risk stratification remain uncertain for most NICM. Based on an advanced multimodal workup, multiparametric risk scores may be created and subsequenlty validated, in order to predict the arrhythmic risk of specific cardiomyopathies. This would improve and refine the scores currently available for a limited number of NICM, such as HCM, classic right ventricular ACM, or cardiomyopathies secondary to LMNA gene mutation. Parameters from clinical arrhythmology and cardiac electrophysiology, as well as those related to inflammation, may improve the current status of the art about risk prediction.
  • Tailoring treatment strategies. A multimodal (i.e. by use of multiple diagnostic techniques) and multidisciplinary (i.e. by means of a team of cardiac electrophysiologists, cardiologists, radiologists, geneticists, immunologists, cardiac pathologists, pediatricians) model may help improving therapeutic strategies in AINICM, as already demonstrated in myocarditis. In detail, treatment options will include guideline-directed cardiological treatment, implantable cardiac devices, antiarrhythmic drugs, immunomodulating agents and catheter ablation of arrhythmias. In this setting, the coordinating center is an internationally recognized third-level referral center for the management of ventricular arrhythmias, and already has advanced facilities, including a dedicated multidisciplinary disease unit for myocarditis and inflammatory cardiomyopathies. In this setting, preliminary evidence suggests a potential benefit from targeting M-Infl even in NICM and AINICM.
  • Allowing direct comparison among specific NICM subgroups. Extensive inclusion criteria, allowing the entry of all NICM in a common registry with homogeneous variables would enable the direct comparison of different AINICM types, by means of multiparametric and multimodal characterization, for the first time including both the electrophysiological and inflammatory viewpoints. This is expected to significantly advance the status of knowledge in the field of NICM.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This is a registry study: the team will collect your past and future clinical information and test results for the study database. Records and tests can include genetic testing, cardiac imaging (CMR, CT, PET), ECG and arrhythmia monitoring, laboratory tests and biomarkers, histology reports, and electrophysiology data. Some participants may have invasive procedures recorded that are part of their clinical care—examples in the record include endomyocardial biopsy, electrophysiology study and electroanatomical mapping; catheter ablation or cardiac device implantation are recorded if done as treatment. You can expect long‑term follow‑up with periodic data collection over years (the registry plans extended follow‑up intervals).

How the study is structured. Multicenter observational registry that includes both retrospective and prospective patient data. Patients will be compared as arrhythmic versus non‑arrhythmic presentations and as inflammatory versus non‑inflammatory cases. The registry collects routine and advanced tests (cardiac imaging such as CMR/CT/PET, ECG and monitoring, genetic testing, endomyocardial biopsy, electroanatomical mapping and electrophysiology), treatments received, and long‑term outcomes for analysis over up to 30 years.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jan 30, 2018
Primary completion
Dec 31, 2035 (estimated)
Study completion
Dec 31, 2035 (estimated)
Target enrollment
15000 participants (estimated)
Last updated on registry
Sep 23, 2024
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Scientific Institute San Raffaele
Principal investigator
Giovanni Peretto, MD, Principal Investigator
Scientific Institute San Raffaele

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

immunosuppressive
A medicine that reduces the activity of the immune system. Studies of autoimmune conditions often require a stable dose, a prior failure, or a washout of such medicines.
control group
The group the study treatment is compared with. It may receive a placebo, an existing treatment (active comparator), a sham procedure, or no intervention.
Written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
follow-up
The period after treatment or enrolment during which participants are observed or contacted, for example to record side effects or outcomes.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
computed tomography
An X-ray scan that builds detailed cross-section images of the body. 'High-resolution' CT (HRCT) is used to look closely at the lungs.
positron emission tomography
A scan in which a small amount of a radioactive tracer is injected so that activity in tissues can be seen. Often combined with a CT or MRI scan.
biopsy
Removal of a small piece of tissue so it can be examined under a microscope. 'Biopsy-proven' or 'histologically confirmed' means the diagnosis was confirmed by examining tissue under a microscope.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

← Back to clinical trials