Table 4.
Follow-up data of ERT-treated patients.
| total [n=17] | missense mutations [n=9] | nonsense mutations [n=8] | p-value | |
|---|---|---|---|---|
| age, years | 44.8 ± 19.0 | 52.9 ± 19.5 | 35.6 ± 14.7 | 0.0590 |
| follow-up, months | 25 [12 to 104] | 25 [12 to 104] | 26 [12 to 62] | 0.7611 |
| lyso-Gb3, ng/ml | 28.6 [0.6 to 101.0] |
19.0 [0.6 to 41.0] |
34.6 [18.6 to 101.0] |
0.0464 |
| agalsidase-alfa, n | 8 (47.1) | 5 (55.6) | 3 (37.5) | 0.6372 |
| pre-medication, n | 10 (58.8) | 4 (44.4) | 6 (75.0) | 0.3348 |
| lyso-lyso-Gb3 > reference, n | 16 (94.1) | 8 (88.9) | 8 (100.0) | 0.9999 |
| neutralizing ADAs, n | 11 (64.7) | 3 (33.3) | 8 (100.0) | 0.0090 |
| neutralizing capacity of ADAs, mg AGAL | 66 ± 48 | 31 ± 30 | 79 ± 48 | 0.1432 |
| serum creatinine, mg/dl | 0.85 [0.64 to 6.56] |
1.50 [0.64 to 6.56] |
0.81 [0.64 to 1.86] |
0.2100 |
| eGFR, ml/min/1.73 m² | 85.4 ± 42.9 | 68.4 ± 43.9 | 104.5 ± 34.9 | 0.0828 |
| ACR, mg/g | 158 [0 to 3625] | 1,679 [0 to 3625] | 67 [5 to 1627] | 0.5041 |
| albuminuria, n | 10 (62.5) | 5 (62.5) | 5 (62.5) | 0.9999 |
| dialysis, n | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.9999 |
| septum thickness, mm | 12.1 [8.6 to 22.0] |
14.5 [9.0 to 21.0] |
12.1 [8.6 to 22.0] |
0.5506 |
| LVH, n | 11 (68.8) | 6 (75.0) | 5 (62.5) | 0.9999 |
| myocardial infarction, n | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.9999 |
| pacemaker/ICD, n | 6 | 4 (44.4) | 2 (25.0) | 0.6199 |
| stroke/TIA, n | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0.9999 |
| RAAS blockers, n | 9 (52.9) | 7 (77.8) | 2 (25.0) | 0.0567 |
| diuretics, n | 2 (11.8) | 2 (22.2) | 0 (0.0) | 0.4706 |
| DS3 total, score | 21 ± 14 | 25 ± 17 | 20 ± 11 | 0.2402 |
| MSSI total, score | 20 ± 11 | 22 ± 9 | 17 ± 12 | 0.3775 |
Pre-medication includes treatment with non-steroidal anti-inflammatory drug (NSAIDs), antihistamines, or glucocorticoids. Values are given as mean ± SD or median [range], if unequal distributed, or number (%). Statistically significant differences between groups are shown in bold. ACR, albumin-creatinine ratio; ADA, anti-drug antibodies; AGAL, α-galactosidase A; DS3, Disease Severity Score System; eGFR, estimated glomerular filtration rate (CKD-EPI-based); ERT, enzyme replacement therapy; ICD, implantable cardioverter defibrillator; LVH, left ventricular hypertrophy defined as septum thickness >11.5 mm; lyso-Gb3, globotriaosylsphingosine (reference value ≤1.8 ng/ml); MSSI, Mainz Severity Score Index; RAAS, renin-angiotensin-aldosterone-system.