Table 1.
Basic characteristics of the subjects. Pathogenic mutations in GBA gene, treatment at initial and follow up visits are noted. M, Male; F, female; ERT, enzyme replacement therapy; SRT, Substrate reduction therapy; UT, Untreated. ERT ¶ -ERT with velaglucerase alfa (VPRIV®), ERT * - ERT with imiglucerase (Cerezyme®), SRT- eliglustat (Cerdelga®).
| ID | Gender | Age (Years) | Genotype | Initial Visit | Follow-Up Visit |
|---|---|---|---|---|---|
| SRT-01 | F | 50 | N370S/N370S | ERT ¶ | SRT |
| SRT-02 | M | 59 | N370S/N370S | ERT * | SRT |
| SRT-03 | F | 46 | N370S/N370S | ERT * | SRT |
| SRT-04 | F | 57 | N370S/N370S | ERT * | SRT |
| SRT-05 | F | 35 | N370S/R463C | ERT * | SRT |
| SRT-06 | F | 37 | N370S/R463C | ERT * | SRT |
| SRT-07 | F | 24 | N370S/L444P | ERT * | SRT |
| SRT-08 | F | 62 | N370S/R463C | ERT * | SRT |
| SRT-09 | F | 52 | 1448C/L444P | ERT ¶ | SRT |
| SRT-10 | F | 47 | N370S/N370S | ERT ¶ | SRT |
| ERT-01 | F | 34 | N370S/L444P | ERT ¶ | ERT ¶ |
| ERT-02 | F | 35 | N370S/R120Q | ERT ¶ | ERT ¶ |
| ERT-03 | F | 45 | N370S/N370S | ERT ¶ | ERT ¶ |
| ERT-04 | F | 61 | N370S/L444P | ERT ¶ | ERT ¶ |
| ERT-05 | F | 20 | L444P/L444P | ERT * | ERT * |
| ERT-06 | M | 18 | L444P/L444P | ERT * | ERT * |
| ERT-07 | F | 10 | L444P/L444P | ERT * | ERT * |
| ERT-08 | F | 27 | N370S/L444P | ERT * | ERT * |
| ERT-09 | F | 42 | N370S/L444P | ERT * | ERT * |
| ERT-10 | M | 50 | N370S/L444P | ERT ¶ | ERT ¶ |
| ERT-11 | M | 76 | N370S/N370S | ERT * | ERT * |
| ERT-12 | M | 14 | L444P/L444P | ERT * | ERT * |
| ERT-13 | F | 40 | L444P/R463C | ERT ¶ | ERT ¶ |
| ERT-14 | F | 23 | N370S/W381X | ERT ¶ | ERT ¶ |
| UT-01 | M | 27 | C677T/C677T | UT | SRT |
| UT-02 | F | 56 | N370S/N370S | UT | SRT |
| UT-03 | M | 38 | N370S/N370S | UT | SRT |
| UT-04 | M | 34 | N370S/N370S | UT | ERT ¶ |
| UT-05 | F | 36 | N370S/N370S | UT | UT |
| UT-06 | F | 32 | N370S/N370S | UT | UT |
| UT-07 | F | 61 | N370S/N370S | UT | UT |
| UT-08 | F | 58 | N370S/N370S | UT | UT |