Skip to main content

Table 2 Patient characteristics and diagnostic studies, baseline

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

Patient identification Gender Age at diagnosis Signs/Symptoms at diagnosis Diagnostic tests NPC1 filipin/Genotype Miglustat treatment
SEQ1 Female 3 years Splenomegaly, pancytopenia, cognitive impairment Cultured fibroblast, positive filipin; genotype heterozygous for c.1920delG exon 12 and IVS9 c.1554-1009G > A missense mutation yes
SEQ2 Female 3 years Splenomegaly, pancytopenia, cognitive impairment Cultured fibroblast, positive filipin; genotype heterozygous for c.1920delG exon 12 and IVS9 c.1554-1009G > A missense mutation yes
SEQ3 Female 7 years Cognitive impairment Cultured fibroblast, equivocal filipin; genotype heterozygous for c.1552C > T, p.R518W (p.ARG518Trp) in exon 9 and c.2594C > T, p.5865 L (p.Ser865Leu) in exon 17 yes
SEQ4 Female 5 years Ataxia Cultured fibroblast, equivocal filipin; genotype heterozygous for c.1552C > T, p.R518W (p.ARG518Trp) in exon 9 and c.2594C > T, p.5865 L (p.Ser865Leu) in exon 17 yes
SEQ5 Male 10 years Dysarthria, cognitive impairment, anxiety, hypotonia, VSGP Cultured fibroblast, positive filipin; genotype heterozygous for R978C missense and IVS21–2 A > G splice site mutation yes
SEQ6 Female 7 years Splenomegaly, VSGP Cultured fibroblast, positive filipin; genotype heterozygous for R978C missense and IVS21–2 A > G splice site mutation Yes
SEQ7 Male 2 years Neonatal hepatosplenomegaly, conjugated hyperbilirubinemia, hypotonia, global developmental delay, failure to thrive Cultured fibroblast, positive filipin; Genotype heterozygous for c.2008_2011delITGCT and c.3565_3566insG yes
SEQ8 Female 1 year Liver dysfunction, cholestatic jaundice, hepatosplenomegaly, developmental delay Genotype heterozygous for c.2213C > A and c.3234_3237dupATTT Yes
SEQ9 Female 20 years Cognitive decline, ataxia, hepatosplenomegaly Cultured fibroblast, positive filipin; Genotype heterozygous for c.688_69delTCTGTG and c.3182 T > C No
IV1 Female 8 months Hepatosplenomegaly, liver fibrosis, difficulty feeding Cultured fibroblast, positive filipin; Genotype heterozygous for p.I923V and A1151T (c.2767A > G/3541G > A) No
IV2 Male 15 years Hepatosplenomegaly, behavioral disturbance, epilepsy, cognitive decline LS-509 biomarker normal; Confirmed NPC1 gene mutation, results not available yes
IV3 Female 16 years Liver dysfunction at birth, hepatosplenomegaly, schizophrenia LS-509 biomarker increased; genotype not available yes
  1. SEQ1–9: patients received intravenous followed by addition of intrathecal treatment
  2. IV1–3: patients received intravenous treatment only
  3. VSGP vertical supranuclear gaze palsy