Baseline patient, donor, and transplantation characteristics
| Characteristics . | N (%) . | Median (range) . |
|---|---|---|
| Patient characteristics | ||
| Overall | 217* | |
| Sex (male) | 122 (56) | |
| Ethnicity (Caucasian) | 198 (91) | |
| Genotype (nonsense-nonsense) | 76 (56)† | |
| Age at HCT, months | 16 (2-47) | |
| Age at diagnosis, months | 9 (0-42) | |
| Follow-up age, years | 9 (3-23) | |
| Donor characteristics | ||
| Source (CB/BM/PBSC) | 85/118/14 (39/54/7) | |
| Relation (related) | 73 (34) | |
| Carrier status (carrier) | 39 (19) | |
| Transplantation characteristics | ||
| Number of HCT (1/2/3) | 179/36/2 (83/16/1) | |
| Year of HCT | 2002 (1985-2011) | |
| ERT (yes) | 45 (21) | |
| TBI (yes) | 25 (12) | |
| Donor chimerism (<95%‡) | 49 (23) | |
| IDUA level¶ (<reference§) | 55 (26) | |
| IDUA level¶ (% of mean) | 82 (13-302) |
| Characteristics . | N (%) . | Median (range) . |
|---|---|---|
| Patient characteristics | ||
| Overall | 217* | |
| Sex (male) | 122 (56) | |
| Ethnicity (Caucasian) | 198 (91) | |
| Genotype (nonsense-nonsense) | 76 (56)† | |
| Age at HCT, months | 16 (2-47) | |
| Age at diagnosis, months | 9 (0-42) | |
| Follow-up age, years | 9 (3-23) | |
| Donor characteristics | ||
| Source (CB/BM/PBSC) | 85/118/14 (39/54/7) | |
| Relation (related) | 73 (34) | |
| Carrier status (carrier) | 39 (19) | |
| Transplantation characteristics | ||
| Number of HCT (1/2/3) | 179/36/2 (83/16/1) | |
| Year of HCT | 2002 (1985-2011) | |
| ERT (yes) | 45 (21) | |
| TBI (yes) | 25 (12) | |
| Donor chimerism (<95%‡) | 49 (23) | |
| IDUA level¶ (<reference§) | 55 (26) | |
| IDUA level¶ (% of mean) | 82 (13-302) |
All characteristics concern the last HCT. BM, bone marrow; CB, cord blood; PBSC, peripheral blood stem cells; TBI, total body irradiation.
Centers: University of Minnesota (n = 45), Duke University (n = 45), Royal Manchester Children’s Hospital (n = 30), Our Lady’s Children’s Hospital (n = 27), Hopital Universitaire Necker-Enfants Malades (n = 19), University Medical Center Utrecht (n = 14), Great Ormond Street Hospital (n = 13), San Gerardo University Hospital (n = 6), University Hospitals Leuven (n = 3), Ghent University Hospital (n = 3).
Of known mutations.
Median, 75% (range, 16%-94%).
Measured in leukocytes.
Lower limit of normal, as defined by the local reference laboratory testing IDUA activity.