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. 2019 Dec 30;24(2):157–166. doi: 10.1007/s10157-019-01810-w

Table 2.

Individual patient characteristics and results for primary and key secondary end points [18-month comparison period + 12-month extension period (30 months of treatment)]

Group Migalastat–migalastat (n = 5) ERT–migalastat (n = 2)
Subject no. Subject 1 Subject 2 Subject 3 Subject 4 Subject 5 Subject 6b Subject 7
Genotype Q312R L403S Q279E M296I M96I R342Q G260A
Age, years 48 56 57 52 46 53 70
Sex Male Male Female Female Male Female Female
Duration of disease, years 19.74 4.63 4.78 17.31 4.20 10.73 26.82
ACEI/ARB use Yes Yes No Yes Yes No No
eGFRCKD-EPI (mL/min/1.73 m2)
 Baseline 51.33 99.74 97.73 108.34 54.91 106.85 44.83
 Change (0–18 months of administration) –11.93 0 –6.99 –2.14 –2.85 –7.43 4.97
 Annualized rate of change (0–18 months of administration) –6.97 2.25 –4.25 1.53 –1.48 –1.77 1.56
 Change (0/18–30 monthsa of administration) –17.66 0.58 –8.65 –3.48 –6.26 – –17.60
 Annualized rate of change (0/18–30 monthsa of administration) –5.82 0.10 –6.26 –0.73 –1.98 – –20.26
mGFRiohexol (mL/min/1.73 m2)
 Baseline 56.20 99.80 107.60 106.80 52.80 108.00 33.00
 Change (0–18 months of administration) –10.50 –20.00 –25.80 –1.10 –1.70 –4.20 –6.30c
 Annualized rate of change (0–18 months of administration) –7.22 –11.40 –16.32 –1.93 –1.11 –4.70 –6.42c
 Change (0/18–30 monthsa of administration) –15.10 –13.10 –0.40 –5.40 –5.60 – –
 Annualized rate of change (0/18–30 monthsa of administration) –6.02 –5.85 –0.11 –2.27 –2.68 – –
Left ventricular mass index (g/m2)
 Baseline 102.64 165.73 87.83 74.83 125.63 122.49 85.34
 Change (0–18 months of administration) –7.74 –26.23 1.63 –8.72 –12.59 –23.97 12.54
 Change (0/18–30 monthsa of administration) –17.96 –24.46 –0.12 –18.86 –5.13 – 13.26
α-Gal A activity in PBMC (nmol/h/mg)
 Baseline 1.69 1.48 22.42 17.61 1.23 11.91 13.64
 Change (0–18 months of administration) 6.86 0.74 5.07 13.06 2.25 3.57 –6.31
 Change (0/18–30 monthsa of administration) 3.48 1.02 13.44 15.15 2.86 – 16.98
Plasma lyso-Gb3 level (nmol/L)
 Baseline 2.247 11.500 3.220 1.380 14.500 13.13 10.93
 Change (0–18 months of administration) 0.767 –1.107 0.277 0.550 –0.200 –2.37 –0.57c
 Change (0/18–30 monthsa of administration) 1.050 –2.127 0.967 0.733 –0.833 – –

α-Gal A alpha-galactosidase A, ACEI angiotensin-converting enzyme inhibitor, ARB angiotensin II receptor blocker; HEK human embryonic kidney, eGFRCKD-EPI estimated glomerular filtration rate calculated by the Chronic Kidney Disease Epidemiology Collaboration equation, ERT enzyme replacement therapy, lyso-Gb3 globotriaosylsphingosine, mGFRiohexol estimated glomerular filtration rate determined from clearance of iohexol, mITT modified intention-to-treat population, PBMC peripheral blood mononuclear cell

a0/18–30 months: the change or annualized rate of change from baseline in the migalastat–migalastat group, or the change or annualized rate of change from month 18 in the ERT-migalastat group

bThe subject was identified as having a GLA gene mutation not amenable to migalastat based on the final HEK cell-based assay and was excluded from the mITT population

cMonth 12