Phase 3
Completed N=5
GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis
Bile Acid Synthesis Defect · Inborn Error of Bile Acid Metabolism · Inborn Error of Bile Acid Conjugation
Source: ClinicalTrials.gov NCT01589523 ↗
Enrolled (actual)
5
Serious AEs
0.0%
Results posted
May 2022
Primary outcomePrimary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants
◆ Published Evidence
Highly cited
127citations · ~10 / year
Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
Summary
The purpose of this research study is to determine the way (mechanisms) by which your defect in bile acid handling (metabolism) causes your liver disease or abnormality in absorption of vitamins and the effect of an investigational bile acid therapy (glycocholic acid) on your vitamin absorption and your liver disease. An investigational therapy is one that not approved by the United States Food and Drug Administration (FDA) and is being provided to you under an Investigational New Drug application from the FDA.
Linked Publications (2)
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Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency.
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Treatment of bile acid amidation defects with glycocholic acid.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. |
5 | — |
| PRIMARY Evaluation of Levels of Atypical Bile Acid Metabolites After GCA Treatment Compared |
1.4; 1; 1 | — |
| SECONDARY Changes in Liver Function Tests of ALT From Baseline to Post-treatment |
43.8; 31.7 | 0.342 |
| SECONDARY Change in Liver Function Test: AST From Baseline to Post-treatment |
65; 39 | 0.116 |
| SECONDARY Change in Vitamin D, 25-OH Measure From Baseline to Post-treatment |
1.0; 25.7 | 0.065 |
Eligibility Criteria
Inclusion Criteria
- Confirmation of a diagnosis of an inborn error of bile acid synthesis/conjugation based upon urine analysis by FAB-MS.
- Any age
- Participant must be willing and able to comply with study assessments and procedures.
- The participant and/or parent/legal guardian must have signed the written informed consent document prior to study start.
Exclusion Criteria
- No confirmed diagnosis of inborn error of bile acid synthesis/conjugation based upon urine analysis by FAB-MS.
Data sourced from ClinicalTrials.gov (NCT01589523) and the linked publication. Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication. Informational only — not medical advice.