Participant Demographics and Clinical Characteristics
| Characteristic | Natural History Cohort (n=21) | NIH HPβCD Treated Cohort (n=14) | p-value |
|---|---|---|---|
| Age at baseline - years | |||
| Mean* | 10.7 ± 60 | 1.51 ± 5.5 | 0.61 |
| Median (range) | 10.0 (4.0–21.09) | 14 6 (4–2-23–5) | |
| Sex number (%) | |||
| Male | 9(43) | 7(50) | 0.73 |
| Female | 12(57) | 7(50) | |
| Total NSS at baseline - points | |||
| Mean | 14.5 ± 9.7 | 19.3 ± 7.5 | 0.72 |
| Median (range) | 14 (1–35) | 19(5–32) | |
| Total NSS-hearing at baseline - points | |||
| Mean | 13.2 ± 9.4 | 17.0 ± 7.4 | 0.77 |
| Median (range) | 12(1–33) | 16 (5–32) | |
| Age of first NPC symptom – years | |||
| Mean | 2.3 ± 3.7 | 3.5 ± 43 | 0.83 |
| Median (range) | 0.6 (0.0–13.0) | 1.0 (0.0–12.0) | |
| Age of first neurological symptom – years | |||
| Mean | 5.4 ± 4.2 | 5.9 ± 3.5 | 0.93 |
| Median (range) | 3.5 (1.2–15.0) | 6.0 (1.0–1.2) | |
| Age of diagnosis – years | |||
| Mean | 7.1 ± 6.5 | 9.1 ± 5.6 | 0.83 |
| Median (range) | 7.0 (0.3–21.0) | 9.0 (2.0–20.0) | |
| Miglustat use - number (%) | |||
| Yes | 16 (76) | 12 (86) | 0.68 |
| No | 5 (24) | 2 (14) | |
*
± SEM