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

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

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.

Study Overview

• Status: Unknown
• Conditions: Transthyretin Amyloidosis
• Intervention / Treatment: Other: questionnaire on life quality

• Study Type: Observational
• Enrollment (Anticipated): 250

Contacts and Locations

Study Locations

• Italy
  • Ferrara, Italy
    • Recruiting
    • Università di Ferrara
    • Contact: Claudio Rapezzi; Phone Number: +390532293111; Email: claudio.rapezzi@unife.it
  • Firenze, Italy
    • Recruiting
    • Careggi Hospital
    • Sub-Investigator: Francesco Cappelli, MD
    • Principal Investigator: Federico Perfetto
  • Messina, Italy
    • Recruiting
    • Università di Messina
    • Contact: Gianluca Di Bella; Phone Number: +393205506147; Email: gianluca.dibella@unime.it
  • Pavia, Italy
    • Recruiting
    • Università di Pavia
    • Contact: Giovanni Palladini; Phone Number: +390382989898; Email: giovanni.palladini@unipv.it
  • Pisa, Italy, 56124
    • Recruiting
    • Fondazione Toscana Gabriele Monasterio (FTGM)
    • Contact: Michele Emdin; Phone Number: +393454744053; Email: emdin@ftgm.it
    • Sub-Investigator: Claudio Passino, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with cardiac ATTR amyloidosis, either biopsy proven or diagnosed according to the algorithm for nonbiopsy diagnosis of ATTR cardiomyopathy (Gillmore et al., 2016), will be evaluated.

PROMs for v-ATTR and wt-ATTR will be created in close collaboration with 50 patients suffering from ATTR cardiomyopathy (see below), and will be validated on a cohort of 250 patients (i.e., 50 patients from each participating center; see below).

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University of Messina
• Collaborators: Università degli Studi di Ferrara; University of Pavia; Careggi Hospital; Fondazione Toscana Gabriele Monasterio

Study record dates

Study Major Dates

• Study Start (Actual): February 22, 2020
• Primary Completion (Anticipated): April 22, 2022
• Study Completion (Anticipated): June 22, 2022

Study Registration Dates

• First Submitted: September 20, 2020
• First Submitted That Met QC Criteria: September 20, 2020
• First Posted (Actual): September 24, 2020

Study Record Updates

• Last Update Posted (Actual): September 24, 2020
• Last Update Submitted That Met QC Criteria: September 20, 2020
• Last Verified: September 1, 2020

More Information

Terms related to this study

• Keywords: quality of life; amyloidosis; transthyretin; cardiomyopathy; score
• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Proteostasis Deficiencies; Metabolism, Inborn Errors; Heredodegenerative Disorders, Nervous System; Amyloidosis, Familial; Amyloid Neuropathies; Amyloidosis; Amyloid Neuropathies, Familial
• Other Study ID Numbers: IT08012020

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided

Drug and device information, study documents

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