Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2026
Development and validation of the modified-comprehensive Kumamoto Score: a multi-organ assessment tool for hereditary transthyretin amyloidosis.
СтатьяВалидационное исследованиеНазвание и аннотация: Перевод пока не подготовлен
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Yamakawa Shiori, Nomura Toshiya, Misumi Yohei, Taguchi Tomoaki, Nakahara Keiichi, Tasaki Masayoshi, Kuyama Naoto, Usuku Hiroki, Izumiya Yasuhiro, Takihara Yuji, Aldinc Emre, Obayashi Konen, Inoue Toshihiro, Tsujita Kenichi, Ando Yukio, Ueda Mitsuharu
Аннотация
BACKGROUND: Disease-modifying therapies for hereditary transthyretin (ATTRv) amyloidosis necessitate sensitive, multi-organ assessment tools capturing early disease manifestations across heterogeneous phenotypes. We developed and validated the modified-comprehensive Kumamoto Score (mKS).
METHODS: This prospective validation study enrolled 76 genetically confirmed ATTRv amyloidosis patients. The mKS comprises four organ-specific subscales: peripheral neuropathy (mKS-PN, 0-258), cardiomyopathy (mKS-CM, 0-195), eye (mKS-E, 0-60) and central nervous system (CNS) involvement (mKS-CNS, 0-45); total range 0-558. Construct validity was primarily assessed through Spearman's correlations with established clinical scores, objective biomarkers and patient-reported quality of life.
RESULTS: The median patient age was 56.2 years; 60.5% had Val30Met (p.Val50Met) mutations. The mKS demonstrated strong validity with established scores (Kumamoto Score (KS): ρ = 0.798; Neuropathy Impairment Score (NIS): ρ = 0.791; both p < .001) and quality of life (EuroQol 5-Dimension 5-Level (EQ-5D-5L): ρ = -0.731, p < .001). Organ-specific subscales demonstrated strong construct validity: mKS-PN correlated strongly with NIS (ρ = 0.906) and neurophysiological parameters (peroneal CMAP (compound muscle action potential): ρ = -0.819; tibial CMAP: ρ = -0.801); mKS-CM correlated strongly with cardiac biomarkers (B-type natriuretic peptide, BNP: ρ = 0.776; high-sensitivity troponin T (hs-TnT): ρ = 0.712) and imaging parameters (extracellular volume fraction (ECV): ρ = 0.743; interventricular septum thickness in diastole (IVSTd): ρ = 0.716). Subscale intercorrelations were weak (ρ = 0.155-0.381), confirming independent organ assessment.
CONCLUSIONS: The mKS provides a validated comprehensive assessment tool for ATTRv amyloidosis with enhanced early-stage sensitivity and independent organ-specific subscales, addressing critical unmet needs in the era of disease-modifying therapies.
METHODS: This prospective validation study enrolled 76 genetically confirmed ATTRv amyloidosis patients. The mKS comprises four organ-specific subscales: peripheral neuropathy (mKS-PN, 0-258), cardiomyopathy (mKS-CM, 0-195), eye (mKS-E, 0-60) and central nervous system (CNS) involvement (mKS-CNS, 0-45); total range 0-558. Construct validity was primarily assessed through Spearman's correlations with established clinical scores, objective biomarkers and patient-reported quality of life.
RESULTS: The median patient age was 56.2 years; 60.5% had Val30Met (p.Val50Met) mutations. The mKS demonstrated strong validity with established scores (Kumamoto Score (KS): ρ = 0.798; Neuropathy Impairment Score (NIS): ρ = 0.791; both p < .001) and quality of life (EuroQol 5-Dimension 5-Level (EQ-5D-5L): ρ = -0.731, p < .001). Organ-specific subscales demonstrated strong construct validity: mKS-PN correlated strongly with NIS (ρ = 0.906) and neurophysiological parameters (peroneal CMAP (compound muscle action potential): ρ = -0.819; tibial CMAP: ρ = -0.801); mKS-CM correlated strongly with cardiac biomarkers (B-type natriuretic peptide, BNP: ρ = 0.776; high-sensitivity troponin T (hs-TnT): ρ = 0.712) and imaging parameters (extracellular volume fraction (ECV): ρ = 0.743; interventricular septum thickness in diastole (IVSTd): ρ = 0.716). Subscale intercorrelations were weak (ρ = 0.155-0.381), confirming independent organ assessment.
CONCLUSIONS: The mKS provides a validated comprehensive assessment tool for ATTRv amyloidosis with enhanced early-stage sensitivity and independent organ-specific subscales, addressing critical unmet needs in the era of disease-modifying therapies.