Table 1.
Combined demographics and baseline characteristics
| Patient no. | Sex | Current agea (y) | Age at GT (y) | Time after GT (y) | Variant 1 | Variant 2 |
|---|---|---|---|---|---|---|
| CU-01 | F | 14.4 | 4.3 | 10.2 | c.714+4A>Tb | c.714+4A>T |
| CU-02c | M | 9.6 | 4.5 | 5.2 | c.714+4A>T | c.714+4A>T |
| CU-03 | F | 14.5 | 4.5 | 10.0 | c.714+4A>T | c.714+4A>T |
| CU-04 | F | 15.5 | 6.2 | 9.3 | c.714+4A>T | c.1297-1298 insA |
| CU-05 | M | 10.9 | 2.1 | 8.9 | c.714+4A>T | c.714+4A>T |
| CU-06 | F | 11.3 | 2.7 | 8.7 | c.714+4A>T | c.714+4A>T |
| CU-07 | M | 15.1 | 6.7 | 8.5 | c.714+4A>T | c.714+4A>T |
| CU-08 | F | 16.6 | 8.3 | 8.4 | c.714+4A>T | c.714+4A>T |
| 1001 | F | 11.7 | 6.2 | 5.6 | c.714+4A>T | c.714+4A>T |
| 1002 | M | 13.2 | 7.7 | 5.5 | c.714+4A>T | c.714+4A>T |
| 1003 | F | 13.8 | 8.5 | 5.5 | c.714+4A>T | c.714+4A>T |
| 1004 | M | 7.8 | 2.5 | 5.4 | c.714+4A>T | c.1058T>C (p.Leu353Pro) |
| 1005 | M | 8.0 | 2.7 | 5.3 | c.714+4A>T | c.714+4A>T |
| 1006 | F | 11.7 | 6.5 | 5.2 | c.714+4A>T | c.1297-1298 insA |
| 1007c | M | 3.6 | 2.7 | 1.0 | c.714+4A>T | c.179T>C (p.Val60Ala) |
| 1008 | F | 7.9 | 2.9 | 5.1 | c.714+4A>T | c.286G>A (p.Gly96Arg) |
| 1009 | M | 6.7 | 2.1 | 4.6 | c.714+4A>T | c.714+4A>T |
| 1010 | F | 6.2 | 1.7 | 4.5 | c.714+4A>T | c.714+4A>T |
| 301 | M | 9.3 | 5.8 | 3.6 | c.714+4A>T | c.1234C>T (p.Arg412Tryp) |
| 303 | M | 7.5 | 4.2 | 3.4 | c.714+4A>T | c.304G>A (p.Gly102Ser) |
| 304d | M | 5.0 | 1.8 | 3.3 | c.714+4A>T | c.714+4A>T |
| 305 | F | 6.9 | 3.7 | 3.2 | c.714+4A>T | c.714+4A>T |
| 306d | M | 4.7 | 1.7 | 3.0 | c.714+4A>T | c.714+4A>T |
| 307d | F | 5.2 | 2.5 | 2.7 | c.714+4A>T | c.179T>C(p.Val60Ala) |
| 308d | M | 4.5 | 2.0 | 2.5 | c.714+4A>T | c.175G>A |
| 309d | F | 4.2 | 2.2 | 2.0 | c.714+4A>T | c.1234C>T (p.Arg412Tryp) |
| Mean | 9.5 | 4.1 | 5.4 | |||
| SD | 4.0 | 2.2 | 2.6 |
F, female; GT, gene therapy; M, male.
a
Data cutoff, December 31, 2020.
b
All c.714+4A>T was previously named IVS6+4A>T.
c
At the last follow-up.
d
Indicates high-dose group.