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Quality of life assessment in amyloid transthyretin (ATTR) amyloidosis
Author(s) -
Aimo Alberto,
Rapezzi Claudio,
Perfetto Federico,
Cappelli Francesco,
Palladini Giovanni,
Obici Laura,
Merlini Giampaolo,
Di Bella Gianluca,
Serenelli Matteo,
Zampieri Mattia,
Milani Paolo,
Licordari Roberto,
Teresi Lucio,
Ribarich Nicolò,
Castiglione Vincenzo,
Quattrone Filippo,
De Rosis Sabina,
Vergaro Giuseppe,
Panichella Giorgia,
Emdin Michele,
Passino Claudio
Publication year - 2021
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1111/eci.13598
Subject(s) - transthyretin , amyloidosis , quality of life (healthcare) , medicine , clinical trial , disease , amyloid (mycology) , physical therapy , intensive care medicine , pathology , nursing
Abstract Background Amyloid transthyretin (ATTR) amyloidosis is caused by the systemic deposition of transthyretin molecules, either normal (wild‐type ATTR, ATTRwt) or mutated (variant ATTR, ATTRv). ATTR amyloidosis is a disease with a severe impact on patients’ quality of life (QoL). Nonetheless, limited attention has been paid to QoL so far, and no specific tools for QoL assessment in ATTR amyloidosis currently exist. QoL can be evaluated through patient‐reported outcome measures (PROMs), which are completed by patients, or through scales, which are compiled by clinicians. The scales investigate QoL either directly or indirectly, i.e., by assessing the degree of functional impairment and limitations imposed by the disease. Design Search for the measures of QoL evaluated in phase 2 and phase 3 clinical trials on ATTR amyloidosis. Results Clinical trials on ATTR amyloidosis have used measures of general health status, such as the Short Form 36 Health Survey (SF‐36), or tools developed in other disease settings such as the Kansas City Cardiomyopathy Questionnaire (KCCQ) or adaptations of other scales such as the modified Neuropathy Impairment Score +7 (mNIS+7). Conclusions Scales or PROMs for ATTR amyloidosis would be useful to better characterize newly diagnosed patients and to assess disease progression and response to treatment. The ongoing ITALY (Impact of Transthyretin Amyloidosis on Life qualitY) study aims to develop and validate 2 PROMs encompassing the whole phenotypic spectrum of ATTRwt and ATTRv amyloidosis, that might be helpful for patient management and may serve as surrogate endpoints for clinical trials.