Odevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series

Table 1 Principal patient characteristics prior to odevixibat treatment

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Gender	Boy	Girl	Boy	Boy	Boy
Age at first symptoms¹	6 months	5 months	7 years	1 month	15 months
Age at diagnosis of myosin 5B deficiency	18 months	15 months	7 years	9 months	25 months
Age at odevixibat initiation	9 years 11 mo	4 years	7 years 2 mo	15 months	3 years
MYO5B variants	c.356A > G, p.(Tyr119Cys) homozygous	c.3190 C > T^#, p.(Arg1064Ter) heterozygous	c.244G > A, p.(Glu82Lys) homozygous	c.1208 C > A^#, p.(Ala403Asp); c.1361G > A^#, p.(Cys454Tyr)	c.1072 C > G^#, p.(Leu358Val); del Exon 1–23
Serum bile acids²	293 µmol/L	174 µmol/L	252 µmol/L	380 µmol/L	337 µmol/L
Total bilirubin²	54 µmol/L	26 µmol/L	89 µmol/L	102 µmol/L	62 µmol/L
Alanine aminotransferase²	41 IU/L	57 IU/L	58 IU/L	100 IU/L	37 IU/L
Prothrombin time/INR²	97%	100%	1.0	97%	100%
Pruritus²	Moderate	Severe	Severe	Moderate	Severe
Sleep disturbances²	Mild	Severe	Severe	Severe	Moderate

¹First documentation, actual date of first symptoms unknown. ²Reported at the visit preceding the start of odevixibat treatment. ^#MYO5B variant not previously reported. Reference values for the laboratory tests are listed in Supplementary Table 1

ISSN: 1750-1172