Back to resultsExpanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
Primary Purpose
Byler Disease
Status
No longer available
Phase
Locations
Study Type
Expanded Access
Intervention
RAVICTI
Sponsored by
About this trial
This is an expanded access trial for Byler Disease
Eligibility Criteria
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 enrollment
- Any known history of alcohol or substance abuse
Sites / Locations
Outcomes
Primary Outcome Measures
Secondary Outcome Measures
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT02094222
Brief Title
Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
Official Title
Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
Study Type
Expanded Access
2. Study Status
Record Verification Date
February 2019
Overall Recruitment Status
No longer available
Study Start Date
undefined (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor-Investigator
Name of the Sponsor
Robert Squires, Jr.
4. Oversight
5. Study Description
Brief 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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Byler Disease
7. Study Design
8. Arms, Groups, and Interventions
Intervention Type
Drug
Intervention Name(s)
RAVICTI
Other Intervention Name(s)
glycerol phenylbutyrate
Intervention Description
open label expanded access protocol of titrated dosing regimen of RAVICTI for up to 60 weeks
10. Eligibility
Sex
All
Minimum Age & Unit of Time
130 Days
Maximum Age & Unit of Time
21 Years
Eligibility Criteria
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 enrollment
Any known history of alcohol or substance abuse
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Robert H Squires, MD
Organizational Affiliation
University of Pittsburgh
Official's Role
Principal Investigator
12. IPD Sharing Statement
Learn more about this trial
Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
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