| Studies (authors) | Thomazinho et al. | Al-Hassnan et al. [30] | Parini et al. [29] | Broomfield et al.+ [27] | Moravej et al. [42] | Hahn et al. [26] | Van Gelder et al. [25] | Kishnani et al. [31] | Nicolino et al. [24] |
| Country origin | Brazil | Saudi Arabia | Italy | United Kingdom | Iran | Germany | Netherlands | United States | Multicenter (USA, Europe and Israel) |
| Year published | Current Study | 2018 | 2018 | 2016 | 2016 | 2015 | 2015 | 2009 | 2009 |
| Demographic and clinical characteristics |
| ||||||||
| Total sample | 10 | 18 | 28 | 33 | 5* | 23 | 11 | 18 | 21 |
| Male gender | 7 (70%) | 7 (38%) | 13 (46%) | 21 (63%) | NA | 13 (57%) | 5 (45%) | NA | 10 (48%) |
| Sample maximum age (months) | 99 | 120 | 134.3 | 169.2 | 29.25 | 122.1 | 171.6 | 36 | 80.3 |
| Age at diagnosis (months) | 4.5 (1 - 36) | 4 (0 - 12) | 3 (0.16 - 11) | 4.5 | 5 (2 - 7) | 2.8 (0 - 8.4) | <3.5 | NA | 6.8 (1.5 - 22.6) |
| Onset ERT (months) | 5.5 (2 - 37) | 4.5 (0.5 - 12) | 4 (0.26 - 11) | 5.0 | 5.5 (3 - 7.5) | 3.3 (0 - 9.3) | 3.0 (0.1 - 8.3) | NA | 13 (3.7 - 43.1) |
| CRIM + status | 8/10 (80%) | 10 (89%) | 17 (70.8%) | 16/29 (55%) | NA | 9/11 (81.8%)** | 8/11 (72.7%) | 14 (77.7%) | 19/21 (90.4%) |
| Standard rhGAA dose | 10 (100%) | 16 (89%) | 19 (67.8%) | 10 (30%) | 5 (100%) | 11 (48%) | 3 (27.3%) | 9 (50%) | Mixed# |
| Results |
| ||||||||
| Death | 3 (30%) | 15 (83.3%) | 11 (39.28%) | 13 (40%) | 3 (60%) | 10 (43%) | 3 (27.3%) | 5 (28%) | 6 (29%) |
| Alive with ventilator support | 5 (50%) | 2 (11%) | 5 | 7 (20%) | 0 | 4 (17%) | 3 (37.5%) | 4 (22%) | 8 (38%) |
| Alive without ventilator support | 2 (20%) | 1 (5.55%) | 12 | 13 (40%) | 2 (40%) | 9 (40%) | 5 (62.5%) | 9 (50%) | 7 (33%) |
| Mean death age (months) | 17.33 (9 - 30) | 12 (3 - 60) | 23.27 (5 - 78) | 19.2 (6 - 64.9) | NA | 21.1 (8.0 - 41.8) | 51 (7.2 - 52) | 31.36 (19.8 - 40.7) | 9.8 (5.9 - 47.9) |
| Better motor milestone achieved |
| ||||||||
| None or minimum | 5 (50%) | 11 (61.1%) | 11 (40%) | 12 (36%) | NA | 7 (30%) | 3 (27.3%) | 7 (39%) | 8 (38%) |
| Sitting without support | 1 (10%) | 5 (27.7%) | 10 (35%) | 4 (12%) | NA | 7 (30%) | 2 (18.2%) | 4 (22%) | 8 (38%) |
| Walking | 4 (40%) | - | 7 (25%) | 12 (36%) | NA | 9 (40%) | 6 (54.6%) | 7 (39%) | 5 (24%) |
| Running | - | 2 (11.2%) | - | - | NA | - | - | - | - |
| Secondary loss of motor gains | 3 (30%) | 1 (5.55%) | 5 (17.85%) | 1 (3%) | NA | 5 (22%) | 2 (18.2%) | 3 (16.6%) | NA |