Table 1.
Demographic and metabolic data in the over 40 years groups in the NAC and SONIA 2 cohorts.
|
SONIA 2 |
NAC |
|||
|---|---|---|---|---|
| Baseline Replacement (BR+) group (n = 29) | No Baseline (BR-) Replacement group (n = 75) |
Baseline Replacement (BR+) group (n = 34) | No Baseline (BR-) Replacement group (n = 39) |
|
| Weight Kg | 73.6 (16.6) | 73.9 (15.2) | 74.3 (17.1) | 72.8 (16.3) |
| BMI Kg/M2 | 28.1 (4.7) | 26.4 (4.3) | 27.6 (5.0) | 26.6 (4.4) |
| Sex | 13F/16M | 27F/48M | 12F/22M | 17F/22M |
| sHGA μmol/L (baseline, pre-nitisinone) | 34.6 (11.9) | 28.9 (9.1) ** (16.5% lower) | 32.9 (14.4) | 35.6 (16.2) (0.08% higher) |
| uHGA24 μmol/day (baseline, pre-nitisinone) | 26,281 (11764) | 23,276 (10620) (0.04% lower) | 22,125 (10663) | 23,540 (11195) (0.06% higher) |
| Ochronosis scores (baseline) | 20.9 (8.9) | 28.2 (10.1) *** | 12.1 (8.8) | 21.5 (8.7) *** |
| SONIA 2 (effect of nitisinone) | |||||
|---|---|---|---|---|---|
| Baseline Replacement (BR+) Group (n = 29) |
No Baseline Replacement (BR-) Group (n = 75) |
||||
| No NIT (N-) subgroup (n = 12) |
NIT subgroup (N+) (n = 17) | No NIT (N-) subgroup (n = 39) |
NIT (N+) subgroup (n = 36) | ||
| Age (baseline) years | Baseline | 58.4 (5.5) | 57.5 (7.7) | 50.0 (6.3) | 52.0 (6.9) |
| Final | 61.6 (5.1) | 61.0 (7.2) | 53.8 (6.3) | 55.8 (6.9) | |
| sHGA μmol/L | Baseline | 33.4 (10.9) | 35.5 (12.9) ¥ | 27.3 (7.5) | 30.7 (10.3) ¥ |
| Final | 29.1 (7.8) (12.9% lower) | 1.2 (2.2) (96.6% lower) | 28.2 (10.3) (0.03% higher) | 0.5 (0.8) (98.4% lower) | |
| uHGA24 μmol/day | Baseline | 23,787 (12722) | 28,041 (11088) ¥ | 22,632 (10641) | 23,993 (10701) ¥ |
| Final | 19,601 (12890) (17.6% lower) | 127 (254) (99.6% lower) | 22,923 (12111) (0.01% lower) | 100 (70) (99.6% lower) | |
| NAC (effect of nitisinone) | |||
|---|---|---|---|
| Baseline Replacement (BR+) Group (n = 34) | No Baseline Replacement (BR-) Group (n = 39) | ||
| Age (baseline) years | Baseline | 57.4 (8.5) | 52.0 (9.3) |
| Final | 61.4 (9.5) | 57.7 (8.7) | |
| sHGA μmol/L | Baseline | 32.9 (14.4) ¥ | 35.6 (16.2) ¥ |
| Final | 3.6 (1.3) (89.1% lower) | 4.5 (3.4) (87.4% lower) | |
| uHGA24 μmol/day | Baseline | 22,125 (10663) ¥ | 23,540 (11195) ¥ |
| Final | 852 (663) (96.1% lower) | 1105 (1933) (95.3% lower) | |
¥ denotes comparison between baseline and final values showing p < 0.0001.
*, **, *** denote p values <0.05, 0.01, and 0.001 respectively for other comparisons between Baseline JR and No Baseline JR groups.
Values expressed as mean (SD).