Table 1.
Baseline patient and treatment characteristics
| Patient characteristics: | N | % | Median | Range | |
|---|---|---|---|---|---|
| All MPS I | 61 | ||||
| Gender (male/female) | 38/23 | 62/38 | |||
| Phenotype (Hurler/Attenuated) | 44/17 | 69/31 | |||
| Age @ Start of treatment (mths) | 18 | 3-364 | |||
| Age @ final assessment (mths) | 82 | 0.3-420 | |||
| HSCT treated Hurler patient characteristics | |||||
| Gender (male/female) | 30/14 | ||||
| Age @ Start of treatment (mths) | 14 | 3-30 | |||
| Age @ final assessment (mths) | 66 | 11-203 | |||
| Interventions | |||||
| Therapeutic airway intervention post-HSCT | 3 | 7% | Adenotonsillar surgery: 2 pts (1 had revision). Longterm O2: 1 | ||
| Treatments and metabolic characteristics | |||||
| No HSCT (1/2/3) | 32/8/1 | 78/20/2 | |||
| Source (CB/BM/PBSC/Unknown) | 17/15/7/2 | 41/37/17/5 | |||
| Donor (Related/MUD) | 15/26 | 37/63 | |||
| IDUA @ 1 year post HSCT | 36 | 30.0 | 6.3-87.0 | ||
| Heterozygote Donors | 12 | 19.7 | 6.7-49.4 | ||
| Matched Unrelated Donors | 24 | 34.6 | 17.7-87.0 | ||
| Pre HSCT DS:CS ratio | 20 | 1.6 | 0.7-3.4 | ||
| DS:CS ratio @ 1 year | 32 | 0.5 | 0.2-0.8 | ||
| ERT treated Hurler Patients | |||||
| Gender (male/female) | 2/1 | ||||
| Age @ Start of treatment (mths) | 85 | 74-144 | |||
| Age @ final assessment (mths) | 123 | 98-148 | |||
| ERT Treated attenuated patients | |||||
| Gender (male/female) | 9/8 | ||||
| Age @ Start of treatment (mths) | 60 | 24-364 | |||
| Age @ final assessment (mths) | 131 | 72-420 | |||
| Interventions | |||||
| Therapeutic airway intervention on ERT | 7 | 41% | CPAP: 5 pts | ||
| Adenotonsillar Surgery: 2 pts (1 had revision) | |||||
| Metabolic characteristics | |||||
| Pre ERT DS:CS ratio | 5 | 1.9 | 1.1-2.7 | ||
| DS:CS ratio @ 1 year | 13 | 0.8 | 0.4-2.2 | ||
All characteristics concern the last HSCT. BM indicates bone marrow; CB, cord blood; IDUA, alpha-L-iduronidase enzyme level; mths, months; MUD, matched unrelated donor; N, number; PBSC, peripheral blood stem cells.