Table 1.
Demographic and clinical characteristics in the fracture risk analysis population by ATI and fracture status
| Parameter | < 18 years ATI cohort | 18 to < 50 years ATI cohort | >= 50 years ATI cohort | |||
|---|---|---|---|---|---|---|
| Patients with fracture | Patients without fracture | Patients with fracture | Patients without fracture | Patients with fracture | Patients without fracture | |
| Number of patients, n | ||||||
| 33 | 623 | 167 | 1318 | 88 | 419 | |
| Sex, n (%) | ||||||
| Male | 14 (42.4) | 297 (47.7) | 72 (43.1) | 569 (43.2) | 30 (34.1) | 241 (57.5) |
| Female | 19 (57.6) | 326 (52.3) | 95 (56.9) | 749 (56.8) | 58 (65.9) | 178 (42.5) |
| Age at GD1 diagnosis, years | ||||||
| Mean (SD) | 8.3 (4.64) | 7.0 (4.33) | 20.5 (13.44) | 23.2 (12.65) | 45.7 (18.26) | 38.8 (20.45) |
| Median (25th, 75th) | 6.9 (4.6, 11.8) | 6.1 (3.6, 10.0) | 20.8 (7.5, 29.3) | 23.5 (12.8, 32.6) | 50.1 (32.9, 58.3) | 39.8 (23.2, 55.3) |
| Range | 2.9, 17.6 | 0.0, 17.4 | 0.0, 49.3 | 0.0, 49.7 | 0.5, 81.8 | 2.3, 78.9 |
| Age at imiglucerase initiation, years | ||||||
| Mean (SD) | 12.0 (4.61) | 10.0 (4.48) | 36.6 (8.22) | 33.8 (9.03) | 60.5 (8.00) | 60.9 (8.32) |
| Median (25th, 75th) | 14.1 (8.3, 15.2) | 10.2 (6.1, 13.8) | 37.5 (30.3, 43.7) | 33.8 (26.5, 41.4) | 59.0 (53.8, 65.6) | 59.3 (54.4, 65.7) |
| Range | 3.1, 17.9 | 0.2, 18.0 | 18.3, 49.9 | 18.0, 50.0 | 50.0, 84.1 | 50.2, 84.2 |
| Time interval between diagnosis and imiglucerase initiation, years | ||||||
| Mean (SD) | 3.7 (4.36) | 2.9 (3.79) | 16.1 (12.09) | 10.6 (11.02) | 14.9 (15.95) | 22.1 (18.59) |
| Median (25th, 75th) | 0.9 (0.3, 7.7) | 1.0 (0.3, 4.6) | 17.5 (2.9, 25.0) | 6.8 (0.7, 18.0) | 8.9 (0.8, 26.7) | 18.4 (1.4, 39.1) |
| Range | 0.1, 12.9 | 0.0, 16.6 | 0.0, 44.0 | 0.0, 46.5 | 0.0, 61.4 | 0.0, 60.6 |
| Genotype, n (%) | ||||||
| N370S/N370S | 6 (18.2) | 65 (10.4) | 35 (21.0) | 309 (23.4) | 43 (48.9) | 166 (39.6) |
| All other genotypes | 24 (72.7) | 481 (77.2) | 116 (69.4) | 775 (58.8) | 34 (38.6) | 179 (42.7) |
| Unknown genotype | 3 (9.1) | 77 (12.4) | 16 (9.6) | 234 (17.8) | 11 (12.5) | 74 (17.7) |
| Splenectomized prior to or on treatment initiation date, n (%) | ||||||
| No | 27 (81.8) | 567 (91.0) | 88 (52.7) | 942 (71.5) | 56 (63.6) | 299 (71.4) |
| Yes | 6 (18.2) | 56 (9.0) | 79 (47.3) | 376 (28.5) | 32 (36.4) | 120 (28.6) |
| Age at splenectomy, years | ||||||
| n | 6 | 56 | 79 | 376 | 32 | 120 |
| Mean (SD) | 8.7 (4.84) | 7.7 (3.97) | 17.5 (11.27) | 19.4 (10.74) | 27.2 (13.78) | 36.6 (16.62) |
| Median (25th, 75th) | 8.3 (3.8, 12.6) | 7.5 (4.3, 10.1) | 14.1 (8.0, 25.3) | 18.5 (10.4, 26.5) | 27.2 (14.2, 37.1) | 37.8 (23.0, 50.1) |
| Range | 3.7, 15.6 | 2.1, 17.3 | 1.7, 45.0 | 1.5, 48.8 | 5.0, 57.1 | 4.5, 72.9 |
| Bone crisis reported prior to or on treatment initiation date, n (%) | ||||||
| No | 30 (90.9) | 555 (89.1) | 134 (80.2) | 1201 (91.1) | 77 (87.5) | 398 (95.0) |
| Yes | 3 (9.1) | 68 (10.9) | 33 (19.8) | 117 (8.9) | 11 (12.5) | 21 (5.0) |
ATI = Age at treatment initiation; GD1 = Gaucher disease type 1
*Excludes patients from total study sample with first fracture prior to treatment initiation, first fracture prior to age 18, and patients whose follow-up did not extend past age 18 years