Byler DiseaseNCT02094222
Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
A study testing RAVICTI in people with Byler Disease, run by Robert Squires, Jr..
Trial 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… Read more about this study
- Who is it for?
- Ages 130 days to 21 years
- Conditions the study is for
- Byler Disease
- What is being tested?
- RAVICTI
- How many people
- Not given
- Where
- No sites listed yet
- Study dates
- Start not givento not given
- Phase
- Expanded access
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 130 days to 21 years
- All sexes
- Child, Adult
Who may be able to join
- 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
Who cannot join
- 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
Show all 18Show fewer
- 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
About this study
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.
- Conditions
- Byler Disease
- Being tested
- RAVICTI
- Medical subject headings
- Cholestasis, progressive familial intrahepatic 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
RAVICTIDrug
Also called glycerol phenylbutyrate
open label expanded access protocol of titrated dosing regimen of RAVICTI for up to 60 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Mar 2014 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Byler DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Expanded access
Sponsor and investigators
- Lead sponsor
- Robert Squires, Jr.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Robert Squires, Jr., University of Pittsburgh
- Investigators
- Robert H Squires, MD, Principal investigator, University of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02094222
- Sponsor's protocol ID
- PRO13110219
- Status last verified
- Feb 2019
- First submitted
- 19 Mar 2014
- Last updated
- 18 Feb 2019
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Feb 2019. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
- ClinicalTrials.gov ID
- NCT02094222
- Acronym / sponsor ID
- PRO13110219
- Conditions
- Byler Disease
- Study type
- Expanded access
- Recruitment status
- No Longer Available
- Lead sponsor
- Robert Squires, Jr.University, hospital or other
- First posted
- 21 Mar 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
Who may qualify
- Ages
- 130 days to 21 years
- Sex
- All
- Age groups
- Child, Adult
Key inclusion criteria (7 listed)
- 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
Key exclusion criteria (18 listed)
- 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
- esophageal or gastric varix or variceal hemorrhage
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| RAVICTIAlso: glycerol phenylbutyrateopen label expanded access protocol of titrated dosing regimen of RAVICTI for up to 60 weeks | Drug | – |
Primary outcome
Not reported in the source record.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Feb 2019.
Related trials for Byler Disease
RecruitingObservational study
A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in China
Progressive Familial Intrahepatic Cholestasis
Active, not recruitingObservational study
Odevixibat Outcomes in Patients With PFIC Versus an External Control Cohort (OvEC-PFIC)
PFIC - Progressive Familial Intrahepatic Cholestasis
RecruitingObservational study
A Study of the Effectiveness, Safety and the Long-term Outcomes of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Who Take Odevixibat (Bylvay) in South Korea
Progressive Familial Intrahepatic Cholestasis
RecruitingObservational study
Long-Term SafEty and Clinical Outcomes of LivmArli in Patients in the United States (LEAP-US)
Alagille Syndrome, Progressive Familial Intrahepatic Cholestasis
RecruitingObservational study
Pediatric Evaluation and Registry for Liver Cholestasis in Canada
PFIC - Progressive Familial Intrahepatic Cholestasis, Alagille Syndrome (ALGS)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Robert H Squires, MD principal investigator
University of Pittsburgh
Questions about this trial
What is this clinical trial studying?
A study testing RAVICTI in people with Byler Disease, run by Robert Squires, Jr..
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 18 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 18 Feb 2019. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Feb 2019.