ID | Genotype | Quantitative Urinary GAG mg/g creatinine | IDUA, % of day control^^ | ERT | Age at HSCT (months) | Donor type | Cell dose | Â | Chimerism post-transplantation | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Initial | Current^^ | Leukocytes [ukat/kg] [NR: 3.4–11.8] | Serum [nkat/l] [NR: 1.50–4.9] |  |  | HLA | TNC/kg | GVHD | 1 month (%) | 2 years (%) | 5 years (%) | Current^^ (%) | ||||
1 | W402X/Q70X | 232 DS++ HS +  | 6.2 DS- HS- | [10.3] 100% | [1.70] 85% | No | 14 | BMT | HO sibling | 10/10 | 1.3 | C, GI |  > 95 | > 95 | > 95 | > 95 |
2 | Q70X/c.1190-10C > A | 184 DS++ HS+ | 7.1 DS++ HS± (pré-ERT 14 DS++ HS +) | [12.3] 112% (pre-ERT [5.7] 79%) | [0.50] 25% (pre-ERT [0.12] 10%) | 24 y post HSCT | 58 | BMT | HO sibling | 10/10 | 3.2 |  | > 95 | 40 | 50 | 34 |
3 | W402X/134del12 | 177 DS++ HS+ | 5.0 DS+ HS+ | [10.2] 94% | [1.60] 80% | No | 42 | BMTu |  | 9/10 MM A | 4.7 | C, D, GI | > 95 | > 95 | > 95 | > 95 |
4 | W402X/W402X | 247 DS+++ HS+ | 4.8 DS+ HS+ | [4.1]43% | [0.50] 22% | No | 14 | BMT | HET father | 10/10 | 9.2 |  | > 95 | > 95 | > 95 | > 95 |
5 | 1041_1042 del CA/1041_1042 del CA | 179 DS+++ HS+ | 4.8 DS+ HS± | [7.1] 79% | [1.74] 33% | No | 42 | CB | HET sibling | 10/10 | 0.7 | H, GI | 54 | 88 | 88 | 85 |
6 | 1124 del C /W402X | 181 DS+++ HS+ | 7.9 DS± HS± (pre-ERT 29 DS+ HS-) | [5.3] 84% (pre-ERT 2.2 30%) | [0.26] 0.1% (pre-ERT [0.6] 0.1%) | 7 y post HSCT | 23 | BMTu |  | 7/10 MM B, 2Cw | 9.1 |  | 95 | 20 | 10 | 59** |
7 | W402X/Q70X | 231 DS++++ HS++ | 8.2 DS+ HS+ | [6.9] 66% | [0.44] 15% | No | 14 | BMT | HET sibling | 10/10 | 4.0 |  | > 95 | > 95 | > 95 | > 95 |
8 | c.50_61del12/W402X | 116 DS+++ HS+ | 4.6 DS+ HS+ | [12.1] 102% | [1.04] 37% | No | 21 | BMTu |  | 10/10 | 8.0 |  | > 95 | > 95 | > 95 | > 95 |
9 | W402X/W402X | 195 DS+++ HS+ | 5.1 DS± HS± | [8.4] 80% | [2.46] 84% | No | 25 | BMTu |  | 7/10 MM A, 2Cw | 5.3 |  | 80 | 50 | 60 | 82 |
10 | W402X/W402X | 198 DS++++ HS+ | 5.2 DS± HS± | [10.9] 116% | [1.8] 107% | No | 26 | BMTu$ |  | 8/10 MM A, Cw | 5.0 |  | > 95 | > 95 | > 95 | > 95 |
11 | Q70X/W402X | 94 DS+++ HS++ | 4.6 DS± HS+ | [7.7] 90% | [1.10] 49% | No | 16 | UBMT |  | 10/10 | 6.0 |  | > 95 | > 95 | > 95 | > 95 |
12 | W402X/Q70X | 121 DS+++ HS++ | 5.1 DS+ HS± (pre-ERT 9.6 DS++ HS±) | [7.6] 63% (pre-ERT [3.4] 29%) | [1.06] 32% (pre-ERT [0.43] 22%) | 14.5 y post HSCT | 20 | BMTu |  | 7/10 MM A, 2Cw | 8.4 |  | 100 | 40 | 68 | 70 |
13 | Q70X/A327P | 108 DS++++ HS+++ | 3.9 DS± HS± (pre-ERT 24.7 DS++ HS±) | [11.5] 100% (pre-ERT [3.8] 44%) | [1.54] 44% (pre-ERT [0.6] 6%) | 6 y post HSCT | 35 | BMT | HET sibling | 10/10 | 4.5 |  | NC | 50 | 30 | 52 |
14 | W402X/W402X | 169 DS+++ HS++ | 4.3 DS± HS- | [12] 115% | [0.71] 22% | No | 25 | BMTu |  | 7/10 MM A B DRB4 | 10.6 |  | > 95 | > 95 | > 95 | > 95 |
15 | P533R/c.1273_1274insC | 116 DS+++ HS++ | 3.9 DS+ HS+ | [8.8] 70% | [1.41] 52% | No | 23 | BMTu |  | 7/10 MM B C DQB1 | 7.3 |  | > 95 | > 95 | > 95 | > 95 |
16 | W402X/W402X | 182 DS+++ HS++ | 4.9 DS± HS± | [6.5] 63% | [0.57] 36% | No | 12 | BMT | HET sibling | 10/10 | 6.2 | C, D, GI | > 95 | > 95 | > 95 | > 95 |
17 | W402X/Y581X | 167 DS+++ HS++ | 3.2 DS+ HS± | [14.8] 117% | [1.62] 60% | No | 21 | BMTu |  | 7/10 MM A B Cw | 9.7 | D, GI | > 95 | > 95 | > 95 | > 95 |
18 | W402X/W402X | 150 DS+++ HS++ | 5.7 DS+ HS± | [3.5] 37% (pre-ERT [0.8] 20%) | [0.30] 13% (pre-ERT [0.04] 0.01% | 1.6 y post HSCT | 18 | BMTu |  | 10/10 | 9.1 |  | 75 | 35 | 44 | 47 |
19 | Q70X/W402X | high level* | 4.5 DS+ HS+ | [10.1] 93% | [1.40] 70% | No | 28 | BMTu$ |  | 9/10 MM B | 13.4 | C, D, O, H, GI | > 95 | > 95 | > 95 | > 95 |
20 | W402X/W402X | 110 DS++++ HS++ | 5.6 DS+ HS+ | [12.2] 120% | [1.60] 130% | No | 25 | BMTu |  | 10/10 | 9.6 | C, D, GI | > 95 | > 95 | > 95 | > 95 |
21 | Q70X/W402X | 161.5 DS++++ HS++ | 7.0 DS+ HS+ | [7.9] 94% | [0.74] 43% | No | 20 | BMTu |  | 10/10 | 5.4 |  | > 95 | > 95 | > 95 | > 95 |
22 | W402X/W402X | 80 | 7.1 DS+ HS+ | [9.2] 84% | [1.10] 55% | peri-HSCT (10 months) | 31 | BMTu |  | 10/10 | 8.2 | C, D, GI | > 95 | > 95 | > 95 | > 95 |
23 | Q70X/c.792 + 1G > A in intron 5 | 241 | 20.8 DS+ HS± | [4.3] 40% | [0.50] 19% | peri-HSCT (4 months) | 13 | BMT | HET sibling | 10/10 | 4.3 |  | > 95 | > 95 | > 95 | > 95 |
24 | ND in USA | high level* (USA) | 10.9 DS+ HS± | [10.0] 105% | [1.20] 52% | No | 12 | CBu |  | 4/6 MM A, B | 1.2 | C, GI | > 95 | > 95 | > 95 | > 95 |
25 | W402X/W402X | 156 | ND | [13.9] 124% | [0.80] 31% | peri-HSCT (6 months) | 13 | CBu |  | 5/6 MM A | 1.5 |  | > 95 | > 95 | > 95 | > 95 |