Table 1.
Patient characteristics at start of ERT
| Agalsidase alfa (0.2 mg/kg) | Agalsidase beta (1.0 mg/kg) | P value | |
| Patients | 248 | 139 | |
| Men, classical* | 69 (28%) | 71 (51%) | <0.001 |
| Men, non-classical | 47 (19%) | 7 (5%) | 0.22 |
| Women, classical | 95 (38%) | 43 (30%) | 0.14 |
| Women, non-classical | 37 (15%) | 18 (13%) | 0.86 |
| ERT start <18 years of age | 15 (6%) | 3 (2%) | 0.13 |
| Follow-up time (years) | 5.2 (0.8–14.4) | 3.8 (0.8–12.1) | <0.001 |
| Events before initiation of ERT | |||
| Dialysis/renal transplant | 8 (3%) | 12 (9%) | 0.007 |
| PM/ICD | 21 (8%) | 9 (7%) | 0.87 |
| Stroke | 22 (9%) | 17 (12%) | 0.09 |
| Any of the above† | 46 (19%) | 31 (22%) | 0.08 |
| LysoGb3 (nmol/L) | 10 (0.7–146) | 80 (2.0–178) | <0.001 |
| eGFR (mL/min/1.73 m2) | 89 (10–159) | 86 (10–140) | 0.009 |
| CKD category A3 | 44/195 (23%) | 42/113 (37%) | 0.008 |
| LVMI (g/m2.7) | 49 (15–117) | 52 (20–148) | 0.14 |
| Use of ACEi/ARBs | 89/248 (36%) | 52/139 (37%) | 0.83 |
| Hypertension | 109/236 (39%) | 62/137 (45%) | 0.23 |
| BMI (kg/m2) | 26 (±4.9) | 25 (±5.6) | 0.30 |
| HDL cholesterol (mmol/L) | 1.5 (±0.4) | 1.5 (±0.4) | 0.92 |
| LDL cholesterol (mmol/L) | 2.7 (±0.9) | 2.7 (±0.8) | 0.76 |
| Total cholesterol (mmol/L) | 4.8 (±1.1) | 4.7 (±1.0) | 0.51 |
| Triglycerides (mmol/L) | 1.2 (0.2–5.9) | 1.2 (0.3–3.6) | 0.18 |
Continuous variables are presented as mean (±SD) or median (range). Hypertension is defined as a diagnosis of increased blood pressure by the treating physician. CKD category A3 is defined as AER > 300 g/day or equivalent. Missing values (percentage): lysoGb3 (54%), eGFR (5%), LVMI (18%), BMI (5%), HDL cholesterol (28%), LDL cholesterol (18%), total cholesterol (17%), triglycerides (17%). For baseline characteristics per sex and phenotype see online supplementary table S1, for detailed genotype-phenotype information see online supplementary table S2.
*Classical, strictly defined including the presence of at least one characteristic symptom (angiokeratoma, acroparesthesia or cornea verticillata).
†Reflects the number of patients with one or more events (either dialysis or renal transplant, PM/ICD and/or stroke).
ERT, enzyme replacement therapy; PM, pacemaker; ICD, implantable cardiac device; lysoGb3, globotriaosylsphingosine; eGFR, estimated glomerular filtration rate; CKDA, chronic kidney disease albuminuria categories; LVMI, left ventricular mass index measured by echocardiography; ACEi, ACE inhibitors; ARB, angiotensin receptor blocker; BMI, body mass index; HDL, high-density lipoprotein cholesterol; LDL, low-density lipoprotein cholesterol.