Table 2.
Baseline characteristics of the study patients
| Patient | Age (years) | Sex | Mutation 1 | Mutation 2 | NC1 | NC2 | AF | Collagen VII antibodies | Clinical diagnosis |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 36 | Male | c.6527dupC | c.7485+5G>A | + | _ | _ | _ | Generalized RDEB |
| 2 | 28 | Male | c.90delC | c.5048_5051 dupGAAA | + | _ | _ | + | Generalized RDEB |
| 3 | 21 | Male | c.1837C>T | c.5047C>T | + | _ | _ | _ | Generalized RDEB |
| 4 | 18 | Male | c.1637-1G>A | c.5047CT | + | _ | _ | _ | Generalized RDEB |
| 5 | 13 | Female | c.4478delA | c.5047C>T | + | _ | _ | + | Generalized RDEB |
| 6 | 14 | Male | p.G2233RfsX57 | p.Q2488X | + | _ | _ | _ | Generalized RDEB |
| 7 | 15 | Male | p.G2233RfsX57 | p.Q2488X | + | _ | _ | _ | Generalized RDEB |
| 8 | 14 | Female | c.4478delA | c.5047C>T | + | _ | _ | + | Generalized RDEB |
| 9 | 21 | Male | p.G2177AfsX29 | p.G2177 AfsX29 | + | _ | _ | _ | Generalized RDEB |
| 10 | 33 | Female | c.6501G>A | c. 5048_5051 dupGAAA | + | _ | _ | _ | Generalized RDEB |
| 11 | 22 | Male | c.1837C>T | c.5047C>T | + | _ | _ | _ | Generalized RDEB |
| 12 | 10 | Male | c. 5009G>A | c.5132_5133ins5 | + | _ | _ | _ | Generalized RDEB |
Patient 3 in phase 2a was enrolled in phase 2b as patient 11. Patient 5 in phase 2a was enrolled in phase 2b as patient 8. Patient 6 in phase 2a was enrolled in phase 2b as patient 7.