Patient-Reported Outcome Measures in Wild-Type and Variant Cardiac Transthyretin Amyloidosis

Study Overview
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Brief Summary
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Specific, standardized, comprehensive, universally accepted Patient-Reported Outcome Measures (PROMs) are currently lacking for variant and wild-type cardiac amyloid transthyretin amyloidosis (v-ATTR/wt-ATTR). Our goal is then to create two scores able to provide a cumulative assessment of cardiac involvement, peripheral neuropathy (in v-ATTR), and comorbidities, and their impact on the quality of life. In the setting of a nationwide collaboration involving 5 main Italian referral centers for this condition (in Ferrara, Florence, Pavia, Pisa and Messina), a panel will be created, including experts of ATTR cardiomyopathy, neurologists, geriatricians, health management specialists, as well as patients with either variant or wild-type ATTR cardiomyopathy (n=50). The most clinically relevant domains for patients (such as physical limitations, symptoms, self-efficacy and knowledge, social interference, quality of life, age-related issues, social and family environment, frailty, comorbidities) will be identified. Two sets of 30 items (one for variant and another for wild-type ATTR cardiomyopathy) will be created in collaboration with patients. Questions will be formatted for gender neutrality, clarity, interpretability, and possible foreign language translations. PROMs scores will be validated through administration to around 250 consecutive outpatients. Score performance will be evaluated in terms of internal consistency, response to clinical changes, comparison with conventional clinical measures. The time needed for completion, the clarity of questions and the need for assistance from a family caregiver will be evaluated. This project will hopefully lead to the identification of disease-specific metrics that may serve as a clinically meaningful outcome in cardiovascular research, patient management, and quality assessment.

Official Title
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Patient-Reported Outcome Measures in Wild-Type and Variant Cardiac Transthyretin Amyloidosis: The Impact of Transthyretin Amyloidosis on Life qualitY (ITALY) Study

Conditions
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Transthyretin Amyloidosis

Intervention / Treatment
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* Other: questionnaire on life quality


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of cardiomyopathy due to ATTR amyloidosis, diagnosed by endomyocardial biopsy or on the basis of the algorithm for the non-invasive diagnosis of cardiac ATTR amyloidosis (Gillmore et al., 2016). Clinical stability, defined as the lack of unscheduled hospitalizations and/or significant changes in cardiac therapies from at least 1 month. Exclusion Criteria: Lack of informed consent. Inability of understanding a written text in Italian. Absence of the conditions of clinical stability, as defined above.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: questionnaire on life quality|Two sets of 30 PROMs questions will be created. The v-ATTR and wt-ATTR questionnaires will be critically evaluated by the whole panel, taking into account observations and feedback from patients. The 2 scores will be administered to consecutive patients evaluated at dedicated ambulatory clinics of the 4 Institutions. To confirm score reliability and responsiveness, 2 distinct patient cohorts will be recruited. The reliability cohort will be assembled to demonstrate the instrument's test-retest reliability. A second cohort of patients (responsiveness cohort) will be assembled to demonstrate the instrument's responsiveness to changes in clinical status. Patients experiencing a heart failure hospitalization within 6 months will enter the responsiveness cohort at the time of hospital admission.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| reliability | internal consistency | baseline to 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| responsiveness | changes in scores in response to clinical changes | baseline to HF hospitalization (<6 months) | 
| validity of each domain | comparison of scores with other measures that quantify similar concepts, namely other score points, NYHA class, 6MWD, or objective measures of cardiac dysfunction, i.e. circulating levels of NT-proBNP and hs-TnT) | baseline to 6 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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amyloidosis, transthyretin, quality of life, score, cardiomyopathy