Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
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Byler Disease is the result of a homozygous missense (G308V) mutation in the ATP8B1 gene. The disease is typically manifest in the first year of life on the basis of complications of cholestasis; common presentations include jaundice, poor growth, bleeding related to vitamin K deficiency, and/or weak bones related to vitamin D deficiency. Early management of Byler Disease is directed at nutritional issues which tend to be responsive to medical intervention, unlike the pruritus/scratching which remains a devastating problem. Progressive liver disease develops in Byler Disease and can lead to cirrhosis and end-stage liver disease. This is an open label expanded access protocol of RAVICTI in children with Byler Disease. The primary hypothesis is that the administration of RAVICTI in these children is feasible, well tolerated and safe. It is also hypothesized that RAVICTI treatment leads to an improvement in biochemical markers of liver disease and it may ameliorates or prevents the development of scratching behavior as a manifestation of pruritus attributed to the liver disease.
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Layout table for eligibility information
Ages Eligible for Study:
130 Days to 21 Years (Child, Adult)
Sexes Eligible for Study:
Byler Disease as identified by a homozygous mutation in ATP8B1 predicted to yield a G308V missense mutation
Total serum bile acid > 100 µM
Male or female subjects of age greater than 130 days to begin screening procedures
Male or female subjects of age greater than 180 days to begin RAVICTI therapy
Ability and willingness to adhere to all study protocols
Access to intermittent phone contact
Written informed consent
Prior surgical interruption of the enterohepatic circulation (including but not limited to partial biliary diversion and/or ileal exclusion)
Other diagnosed concomitant liver disease
Evidence of portal hypertension
Platelet count < 150,000 and
Spleen palpable > 2 cm below the costal margin, or
History of a clinical complication/feature c/w portal hypertension
esophageal or gastric varix or variceal hemorrhage
Coagulopathy (PT > 15 seconds or INR > 1.5) despite vitamin K therapy
ALT > 10 X ULN
Allergy/hypersensitivity to RAVICTI or 4-phenylbutyrate
Severe concurrent illnesses, such as neurological, cardiovascular, pulmonary, metabolic, endocrine, and renal disorders, that would interfere with the conduct and results of the study
Known diagnosis of human immunodeficiency virus (HIV) infection
Cancer or history of cancer
Any female who is pregnant or lactating or who is planning to become pregnant with 1 year of enrollment