Table 2.
Clinical characteristics of the untreated versus treated groups
| Non-miglustat group n = 16 | Miglustat-treated group n = 10 | p value | |
|---|---|---|---|
| Year of birth | |||
| 1987–2005 | 15 | 0 | |
| 2006–2012 | 1 | 10 | |
| Sex ratio ( boys/girls) | 11/5 | 5/5 | 0.42 |
| NP-C1 (NPC1 gene) | 14 | 10 | 0.51 |
| NP-C2 (NPC2 gene) | 2 | 0 | |
| Consanguinity | 44% (7/16) | 50% (5/10) | |
| Age at diagnosis (years) | 1.88 y (antenatal-4.9) | 0.3 y (0.04–1.4) | 0.02 |
| Age at neurological onset (months) | 12 m (3–18) | 9 m (5–18) | 0.22 |
| Diagnosis before neurological onset | 37.5% | 100% | 0.003 |
| Age at death (years) | 11/16 4.42 (2.58–6.52) | 10/10 5.56 (2.79–7.43) | 0.16 |
| Visceral signs | |||
| Neonatal cholestasis | 5/16 (31%) | 9/10 (90%) | 0.005 |
| Duration (months) | 3 m (3–6); uk n = 2 | 8 m (3–9); uk n = 3 | Nd |
| Specific pulmonary dysfunction | 5/12 (42%) | 6/10 (60%) | 0.70 |
| Splenomegaly | 13/14 (93%) | 8/8 (100%) | > 0.99 |
| Age at discovery (months) | 1.4 m (0.01–28) | 1 m (0.1–4) | 0.20 |
| Hepatomegaly | 12/13 (92%) | 9/9 (100%) | > 0.99 |
| Age at discovery (months) | 3.2 m (0.4–33) | 1 m (0.1–4) | 0.07 |
| Nutrition | |||
| Malnutrition at last follow-up | 4/13 (31%) | 2/8 (25%) | 1 |
| Nutritional support | 8/9 (88%) | 8/8 (100%) | > 0.99 |
| Age at start (years) | 2.75y (1.5–6) | 2.92y (0.5–6.7) | 0.92 |
| Medications | |||
| Oxygen or non-invasive ventilation | 2/7 (29%) | 7/9 (78%) | 0.13 |
| Antiepileptics | 5/7 (71%) | 4/8 (50%) | 0.61 |
| Antispastics or antidystonics | 6/7 (86%) | 7/10 (70%) | > 0.99 |
| Antalgics | 5/7 (71%) | 6/7 (86%) | > 0.99 |
Percentages were calculated taking into account the number of patients for whom information was available. Results are reported as median (range). Abbreviations: y = years; m = months; uk = data unknown; nd = no statistical test due to inadequate sample size