Subject baseline characteristics
| Baseline characteristic | Emixustat 2.5 mg (N=7) | Emixustat 5 mg (N=9) | Emixustat 10 mg (N=7) | All subjects (N=23) |
| ABCA4 genotype—n (%) | ||||
| One pathogenic mutation | 1 (14.3) | 2 (22.2) | 2 (28.6) | 5 (21.7) |
| Two pathogenic mutations | 6 (85.7) | 7 (77.8) | 5 (71.4) | 18 (78.3) |
| BCVA—letter score | ||||
| Right eye | ||||
| N | 7 | 9 | 7 | 23 |
| Mean (SD) | 54.9 (23.79) | 52.4 (27.03) | 46.3 (20.84) | 51.3 (23.48) |
| Median | 45.0 | 50.0 | 38.0 | 45.0 |
| Minimum, maximum | 29–84 | 3–89 | 25–83 | 3–89 |
| Left eye | ||||
| N | 7 | 9 | 7 | 23 |
| Mean (SD) | 43.4 (22.17) | 57.8 (23.04) | 49.0 (23.66) | 50.7 (22.76) |
| Median | 39.0 | 64.0 | 40.0 | 43.0 |
| Minimum, maximum | 20–79 | 27–85 | 25–84 | 20–85 |
| Area of macular atrophy (mm2) (study eye) | ||||
| Pre-protocol amendment | ||||
| Total area (DDAF) | ||||
| N | 2 | 4 | 5 | 11 |
| Mean (SD) | 6.80 (0.42) | 11.21 (5.18) | 11.11 (4.90) | 10.36 (4.56) |
| Median | 6.80 | 10.75 | 13.18 | 8.70 |
| Minimum, maximum | 6.50–7.09 | 6.21–17.12 | 3.66–15.10 | 3.66–17.12 |
| Post-protocol amendment | ||||
| Total area (DDAF+QDAF) | ||||
| N | 5 | 5 | 2 | 12 |
| Mean (SD) | 11.42 (9.30) | 3.09 (1.45) | 17.66 (7.96) | 8.99 (8.38) |
| Median | 6.82 | 2.64 | 17.66 | 5.02 |
| Minimum, maximum | 2.50–22.25 | 1.64–5.14 | 12.03–23.29 | 1.64–23.29 |
| Lois ERG group*—n (%) | ||||
| N | 6 | 7 | 6 | 19 |
| Group 1 | 4 (66.7) | 7 (100) | 4 (66.7) | 15 (78.9) |
| Group 2 | 2 (33.3) | 0 | 1 (16.7) | 3 (15.8) |
| Group 3 | 0 | 0 | 1 (16.7) | 1 (5.3) |
*Phenotypes on full-field ERG; a total of 19 subjects had an evaluable ERG at baseline; Group 1 = normal rod and cone function; Group 2 = normal rod function with abnormal cone function; Group 3 = abnormal rod and cone function.
BCVA, best-corrected visual acuity; DDAF, definitely decreased autofluorescence; ERG, electroretinography; QDAF, definitely decreased autofluorescence.