progressive familial intrahepatic cholestasis type 2
Conditions
Interventions
To subscribe 450 or 600mg/kg/day sodium phenylbutylate (buphenyl) for 24 weeks
Sponsors
Japan Agency for Medical Research and Development
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1)Patients who are diagnosed with PFIC type 2 2)Hospitalised- or out-patients 3)Those who can intake medicine per oral and continue the treatment 4)Those who can receive the observation necessary in this study 5) Those who have given written informed consent on the use of their data for the study (patients or legally acceptable representative)
Exclusion criteria
Exclusion criteria: 1)Those who participated in another study within 3 months 2)Those who have hypersensitivity with phenylbutylate and/or its metabolite 3)Those who received liver transplantation 4)Those who received biliary diversion 5)Those who are pregnant or hoping pregnancy 6)Those who cannot accept to practice contraception 7)Those with congestive heart failure 8)Those with renal dysfunction 9)Those with nonsense or frameshift mutation, or exon deletion in both ABCB11 alleles 10) Those with liver cirrhosis
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To evaluate liver histopathology before and after 24-weeks treatment with sodium phenylbutylate | — |
Secondary
| Measure | Time frame |
|---|---|
| 1)Liver histopathological score 2)Reliability of histopathological scoring system 3)Biomarkers such as AST, ALT, g-GTP, T.Bil, D.Bil 4)Itching 5)Biomarkers such as plasma amino acid fraction (isoleucine, glutamine, glutamic acid, argineine), and anmonia 6)Survival rate 7)Liver transplantation avoidance rate 8)Pharmacokinetics 9)Adverse events | — |
Countries
Japan
Contacts
Public ContactHiroki Kondou
Kindai University Nara Hospital Department of Pediatrics
Outcome results
None listed