Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease (NCT02094222) | Clinical Trial Compass
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Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
Plain-language summary
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.
Who can participate
Age range
130 Days – 21 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* 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
Exclusion Criteria:
* Prior surgical interruption of the enterohepatic circulation (including but not limited to partial biliary diversion and/or ileal exclusion)
* Liver transplantation
* 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
* ascites
* hepatic encephalopathy
* 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 e…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.