Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

Table 4 Change in liver volume and liver enzymes in patient SEQ8

Age at Liver MRI	Treatment IV, IT HPβCD	Liver volume (cm³)	Liver volume/ body weight (cm³/kg)	Normal range liver volume/body weight (cm³/kg) [72]	AST (U/L) RR 15–46	ALT (U/L) RR 3–35	GGT (U/L) RR 5–55	AP (U/L) RR 80–270
1 year 9 months, Baseline	Pre-IV	772	91.4	28.56 +/−5.4 (1 year, 6 months)	88	37	116	274
2 years 2 months	Continued IV, pre-IT	767	71.1	31.83 +/− 5.9 (3 years 4 months)	75	28	102	189
2 years 9 months	IV/IT	699	58.5	31.83 +/− 5.9 (3 years 4 months)	41	28	77	171
3 years 9 months	IV/IT	777	49.8	31.83 +/− 5.9 (3 years 4 months)	40	36	< 10	159
4 years 11 months	IV/IT	812	47.5	31.83 +/− 5.9 (3 years 4 months)	41	37	113	169

Absolute volumetric liver measurements are shown with respect to age and timing of either IV, or sequential IV + IT treatment. A marked decrease in liver size relative to weight and expected volume by age [72] is seen following initiation of IV treatment and continues to decrease with sequential treatment. Liver enzymes show variability at baseline though AST decreases from twice upper limit of normal to a normal range to normal following 1 year of treatment
MRI magnetic resonance imaging, IV intravenous, IT intrathecal, AST aspartate aminotransferase, ALT alanine aminotransferase, GGT gamma-glutamyl transpeptidase, AP alkaline phosphatase, U/L units per liter, RR reference range

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