Table 1.
Changes in blood phenylalanine (Phe) levels and/or phenylalanine intake with sapropterin treatment.
| Author, Year | Country | Number of Patients on Sapropterin Treatment (Age) |
Length of Time of Follow-Up | Baseline Blood Phenylalanine (µmol/L) | Blood Phenylalanine (µmol/L) with Sapropterin |
% Change in Blood Phenylalanine | Baseline Natural Protein/Phenylalanine Intake (mg/day) | Natural Protein/Phenylalanine Intake (mg/day) with Sapropterin | % Change in Natural Protein/Phenylalanine Intake |
|---|---|---|---|---|---|---|---|---|---|
| Lambruschini N et al. 2005 [20] | Spain |
n= 11 (0.2–12.2 years) |
1 year | 382 ± 229 | 442 ± 141 | +15.7% (n.s.) | 356 ± 172 | 1546 ± 192 | +334% |
| Burlina A and Blau N, 2009 [17] | Italy |
n=12 (5.5 ± 4.7 years) |
6 months–7 years | 662 ± 221.4 | N/A | N/A | 498 ± 49 | 1475 ± 155 | +196% |
| Singh RH et al., 2010 [22] | USA |
n = 6 (8.7 ± 2.5 years) |
24 months | N/A | N/A | N/A | 421 ± 128 | 1470 ± 455 | +249% |
| Hennermann JB et al., 2012 [19] | Germany | n = 18 | 48 ± 27 months | N/A | N/A | N/A | 452 ± 201 | 1593 ± 647 | +252% |
| Leuret O et al., 2012 [21] | France |
n = 15 (39 ± 27 months) |
23 (7–80) months | 638 ± 176 | 240 ± 72 | −62.4% | 456 ± 181 | 1683 ± 627 | +269% |
| Thiele AG et al., 2013 [25] | Germany |
n = 8 (5 –16 years) |
3 months | 283 ± 145 | 304 ± 136 | +7.4% (n.s.) | 629 ± 476 | 2131 ± 1084 | +239% |
| Thiele AG et al., 2015 [24] | Germany |
n = 8 (10.5 ± 3.8 years) |
2 years | 262.2 ± 129.4 | 382.7 ± 148.1 | +46% (s.s.) | 493.2 ± 161.8 | 2021.9 ± 897.4 | +310% |
| Longo N et al., 2015 [33] | USA |
n = 504 (treatment group) |
6 years | 591 ± 382 | 392 ± 239 | −33.7% (s.s.) | 1000 ± 959 | 1197 ± 667 | +20% |
| Aldamiz-Echevarria et al., 2013 [30] | Spain |
n = 36 (5 ± 4.6 years) |
2 years | 255.2 ± 146.8 | 365.5 ± 226.5 | +43.2% | 29.9 (18.3–52.3) mg/kg/day | 41.2 (22.9–48.9) mg/kg/day | +38% |
|
n = 10 (5.2 ± 3.1 years) |
5 years | 204.0 ± 143.9 | 289.6 ± 30.6 | +42% | 30.8 (24.6–54.8) mg/kg/day | 38.1 (17.6–47.9) mg/kg/day | +24% | ||
| Tansek MZ et al., 2016 [23] | Slovenia |
n = 9 (2–10 years) |
2 years | 200 [191–302] | 190 [135–285] | −5% (n.s.) | 620 [400–700] | 2000 [1000–2000] | +223% |
| Feldmann R et al., 2017 [18] | Germany |
n = 46 (24 paediatrics) Age: N/A |
6 weeks | 795.3 (340.8–1884) | N/A | N/A | 13.8 (4.3–36.9) mg/kg/day | 35.2 (11.9–81.5) mg/kg/day | +155% |
| Evers RAF et al., 2018 [32] | Netherlands |
n = 21 (13.1 ± 9.2 years) |
5 years | N/A | N/A | N/A | 0.43 ± 0.28 g/kg/day | 0.66 ± 0.26 g/kg/day | +54% |
| Brantley KD et al., 2018 [31] | USA |
n = 18 (16.6 ± 10.3 years) |
1 year | 461.5 [366–539] | 355 [231–427] | −23.1% | 791 [529–2207] | 1198 [993–1457] | +52% |
Data is presented as: mean ± standard deviation, median (range) or median [interquartile range]; N/A = not applicable; n.s. = not significant; s.s. = statistically significant.