This multicenter pilot study will enroll adult participants with a confirmed clinical diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) and heart failure (HF) controls with documentation within the past 2 years that either excludes ATTR-CM or indicates a low probability of ATTR-CM. Ocular imaging and other study data will be collected to assess the feasibility of developing and preliminarily evaluating a machine learning model to discriminate ATTR-CM cases from HF controls without ATTR-CM.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria:
* 1\. Participant must be 18 years and older at the time of signing the informed consent form.
* 2\. Participants with either of the following:
* \- Positive ATTR-CM cases: Participants with a clinical diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) with amyloid deposits in cardiac or non-cardiac tissue confirmed by Congo Red (or equivalent) staining, or DPD-Tc, PYP-Tc, or HMDP-Tc scintigraphy with Grade 2 or 3 cardiac uptake in the absence of abnormal light chains ratio.
* \- Control population: Participants with a clinical diagnosis of guideline-directed medical therapy-directed heart failure (HF) and either:
* a) Subgroup A: Definitively excluded ATTR-CM amyloidosis: negative cardiac or non-cardiac tissue biopsy for amyloid, or negative technetium scintigraphy within the past 2 years.
* b) Subgroup B: Low probability of ATTR-CM amyloidosis, not definitively excluded: absence of amyloid-suggestive features on echocardiography (ECHO), electrocardiography (ECG), or cardiac magnetic resonance imaging (MRI) within the past 2 years, with documented clinical assessment indicating HF etiology unlikely attributable to amyloidosis; no amyloid-specific testing (technetium scintigraphy or biopsy) performed.
* 3\. Participant or legally authorized representative (LAR) must sign the informed consent form.
Exclusion Criteria:
* 1\. Any known eye condition that may preclude clear imaging of the retina.
* 2\. Any known history of amyloid light-chain (AL) amyloidosis.
* 3\. Any ocular surgery that, in the opinion of the investigator, makes participation in the study undesirable.
* 4\. Any medical condition that, in the opinion of the investigator, makes participation in the study undesirable, for example, if the participant is critically unwell or requires ongoing emergency treatment.
* 5\. Involvement in the planning and/or conduct of the study.
* 6\. In the opinion of the investigator, the participant is unlikely to comply with study procedures, restrictions, and requirements.
* 7\. Previous enrollment in the present study.
Primary outcome measure(s)
Comparison of per-participant confidence scores distributions between ATTR-CM cases and HF controls without ATTR-CM — At a single assessment time point within 90 days following informed consent form signing Per-participant confidence score distributions generated by the machine learning (ML) model will be compared between participants with clinically confirmed transthyretin amyloid cardiomyopathy (ATTR-CM) and heart failure controls without ATTR-CM.
Qualitative assessment of features learned indicative of ATTR pathology — At a single assessment time point within 90 days following informed consent form signing Features learned by the machine learning (ML) model that are indicative of transthyretin amyloid pathology will be qualitatively assessed.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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