Table 1.
Baseline demographics and clinical characteristics of adult male patients with classic Fabry disease enrolled in the initial 26-week study of venglustat.
| Patients, N | 11 |
| Age at enrollment, years | |
| n | 11 |
| Mean (SD) | 26.5 (7.6) |
| Median (range) | 24.0 (18–37) |
| Age at diagnosis, years | |
| n | 8 |
| Mean (SD) | 23.9 (7.7) |
| Median (range) | 20.0(17–35) |
| GLA variants | |
| n | 11 |
| Nonsense, n (%) | 9 (81) |
| Missense, n (%) | 2 (18) |
| Leukocyte α-Gal A activity, nmol/hr/mg protein protein | |
| n | 10 |
| <4.0, n (%) | 10 (100) |
| ≥4.0, n (%) | 0 |
| Plasma α-Gal A activity, nmol/hr/mL | |
| n | 11 |
| <1.5, n (%) | 11 (100) |
| ≥1.5, n (%) | 0 |
| eGFR, mL/min/1.73 m2 | |
| n | 11 |
| Mean (SD) | 119.0 (20.8) |
| Median, range | 119.0 (89.0–155.0) |
| Common Fabry symptoms, n (%) | |
| Angiokeratoma | 9 (81.8) |
| Hypohidrosis | 7 (63.6) |
| Tinnitus | 7 (63.6) |
| Paresthesia | 5 (45.5) |
| Diarrhea | 5 (45.5) |
| Proteinuria | 5 (45.5) |
α-Gal A, α-galactosidase A; eGFR, estimated glomerular filtration rate; GLA, α-galactosidase A gene; SD, standard deviation.