Table 1.
Clinical characteristics of men exposed to agalsidase
| Ab-positive | Ab-negative | n* | p-value | |
|---|---|---|---|---|
| N | 18 | 27 | 45 | – |
| Age visit (y.) | 43.7 [32.8–49.2] | 46.3 [41.4–59.6] | 45 | 0.12 £ |
| Age diag (y.) | 28.8 [20.1–41.5] | 41.1 [28.1–53.7] | 45 | 0.09 £ |
| Agalsidase exposure A/B/AB | 4/8/6 | 9/11/7 | 45 | 0.70 |
| Current migalastat | 1 | 1 | 45 | 1 $ |
| Cumul. Exp. (y.) | 10.6 [3.3–12.2] | 4.3 [3.2–7.0] | 45 | 0.22 £ |
| MTP/Missense | 10/8 | 3/21 | 42d | 0.006 $ |
| RRA (%)b | 0.38 [0.25–1.0] | 1.10 [0.95–1.1] | 43 | 0.0003 £ |
| LysoGb3c (ng/ml) | 25.4 [18.9–48.8] | 10.2 [3.1–17.1] | 33 | 0.0005 £ |
| Mainz score total | 23.5 [14.0–32.5] | 22.0 [15.5–27] | 45 | 0.74 £ |
| Mainz cardiovascular score | 2.5 [0.0–9.8] | 9.0 [2.5–12.5] | 45 | 0.14 £ |
| Mainz renal score | 8.0 [0–18] | 0.0 [0.0–8.0] | 45 | 0.22 £ |
| Mainz neurological score | 5.5 [2.3–8.8] | 5.0 [1.5–8.0] | 45 | 0.65 £ |
| Mainz general score | 4.5 [2.5–6.8] | 4.0 [1.5–6.5] | 45 | 0.33 £ |
| Dialysis or kidney transplant | 6 | 1 | 45 | 0.012 $ |
| Classic/ Non classic phenotype | 17/1 | 12/15 | 45 | 0.0005 $ |
n* number of patients included in the analysis; median [IQR], RRAb patients under migalastat were excluded from the analysis, LysoGb3c available plasma of patients under agalsidase only, patients under migalastat were excluded from the analysis, MTPs mutations leading to a truncated protein (deletion, frameshift or non-sense mutations), MSSI Mainz severity score index, IQR interquartile range, RRA relative residual activity
dthe genotype was unavailable for 3 patients
£Mann-Whitney test; $Fischer’s exact test