Abstract
BackgroundAmyloid 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.DesignSearch for the measures of QoL evaluated in phase 2 and phase 3 clinical trials on ATTR amyloidosis.ResultsClinical 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).ConclusionsScales 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.
Highlights
Amyloid transthyretin (ATTR) amyloidosis is caused by the systemic deposition of transthyretin molecules, either normal or mutated
Patients’ quality of life (QoL) can be evaluated through 2 different approaches: (a) patient-reported outcome measures (PROMs), which are completed by patients; and (b) scales, which are compiled by clinicians and investigate QoL either directly or indirectly, that is by assessing the degree of functional impairment and limitations caused by the disease.[13]
The 6-minute walking test is a more objective metric of the cardiorespiratory fitness, and changes in walking distance may serve as an end point in clinical trials on ATTR amyloidosis.[23,25,26]
Summary
Amyloid transthyretin (ATTR) amyloidosis is caused by the systemic deposition of transthyretin molecules, either normal (wild-type ATTR, ATTRwt) or mutated (variant ATTR, ATTRv). The KCCQ is a 23-item PROM evaluating the impact of HF.[24] The KCCQ includes 6 domains referring to the 2 weeks before questionnaire administration: symptoms (frequency and severity of fatigue, shortness of breath or leg swelling), symptom stability, physical functioning, social limitation, QoL and self-efficacy (perceived ability of preventing or managing HF decompensations).
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