Table 1. Participant demographics.
The trial participants were 18 Caucasian males with X-linked retinitis pigmentosa and genetically confirmed mutations within RPGR. Patients were recruited in 6 cohorts of 3 patients receiving increasing concentration of AAV8.coRPGR vector (from 5x1010 gp/ml to 5x1012 gp/ml).
| ID | Age (years) | RPGR mutation | COHORT | Vector concentration (gp/ml) | Volume injected (ml) | Vector dose (gp) |
|---|---|---|---|---|---|---|
| C1.1 | 30 | c.2993_2997delAAGGG | 1 | 5x1010 | 0.10 | 5x109 |
| C1.2 | 41 | c.1571delA | 0.10 | 5x109 | ||
| C1.3 | 41 | c.2628_2629delGG | 0.04 | 2x109 | ||
| C2.1 | 32 | c.2426_2427delAG | 2 | 1x1011 | 0.04 | 4x109 |
| C2.2 | 25 | c.2236_2237delGA | 0.10 | 1x1010 | ||
| C2.3 | 46 | c.2586_2587delGG | 0.10 | 1x1010 | ||
| C3.1 | 27 | c.2650G>T | 3 | 5x1011 | 0.10 | 5x1010 |
| C3.2 | 32 | c.581G>A | 0.03 | 1.5x1010 | ||
| C3.3 | 31 | c.1572+1G>A | 0.10 | 5x1010 | ||
| C4.1 | 24 | c.2993_2997delAAGGG | 4 | 1x1012 | 0.06 | 6x1010 |
| C4.2 | 27 | c.2236_2237delGA | 0.10 | 1x1011 | ||
| C4.3 | 50 | c.1243_1244dupAG | 0.10 | 1x1011 | ||
| C5.1 | 26 | c.808C>T | 5 | 2.5x1012 | 0.15 | 3.75x1011 |
| C5.2 | 20 | c.2420-2435del16bp | 0.10 | 2.5x1011 | ||
| C5.3 | 30 | c.2405_2406delAG | 0.05 | 1.25x1011 | ||
| C6.1 | 25 | c.2405_2406delAG | 6 | 5x1012 | 0.08 | 4x1011 |
| C6.2 | 50 | c.2650G>T | 0.05 | 2.5x1011 | ||
| C6.3 | 22 | c.2268_2269AG | 0.03 | 1.5x1011 |