Phase 3
Completed N=85
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Infantile Refsum's Disease · Zellweger Syndrome · Adrenoleukodystrophy · Peroxisomal Disorders
Source: ClinicalTrials.gov NCT00007020 ↗
Enrolled (actual)
85
Serious AEs
25.3%
Results posted
Jul 2020
Primary outcomePrimary: Number of Participants With Excretion of Atypical Bile Acids in Urine by Category — 10; 51; 11; 9 Participants
◆ Published Evidence
Established
65citations · ~7 / year
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.
Summary
OBJECTIVES:
I. To Evaluate the therapeutic efficacy of cholic acid during provision of compassionate treatment to patients with identified inborn errors of bile acid synthesis and metabolism
II. To assess the safety and tolerability of cholic acid
Linked Publications
-
Oral Cholic Acid Is Efficacious and Well Tolerated in Patients With Bile Acid Synthesis and Zellweger Spectrum Disorders.
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Number of Participants With Excretion of Atypical Bile Acids in Urine by Category |
10; 51; 11; 9; 16; 4 | — |
| SECONDARY Change in Liver Function Tests (LFTs) Measured in Serum |
14; 49; 16; 13; 8; 2 | — |
| SECONDARY Liver Histology |
19; 16; 5; 4; 3; 0 | — |
| SECONDARY Height and Weight |
30.1; 44.0; 21.3; 42.3 | — |
| SECONDARY Adverse Events |
79; 38 | — |
Eligibility Criteria
PROTOCOL ENTRY CRITERIA:
--Disease Characteristics--
Clinical or biochemical evidence of liver disease, unexplained fat-soluble vitamin malabsorption, or peroxisomal dysfunction that compromises bile acid biosynthesis
Inclusion criteria for enrollment were:
- Infants 2mg/dl or increased serum bile acids
- Older subjects of any age with cholestatic liver disease if urine screens suggested that they had inborn errors of bile acid metabolism
- Confirmation of a diagnosis of an inborn error of bile acid synthesis based upon urine analysis by FAB-MS to determine whether specific abnormalities in bile acid synthesis are indicated
- The patient and/or parent/legal guardian must have signed the written informed consent document before study start.
- The patient must be willing and able to comply with all study assessments and procedures.
Data sourced from ClinicalTrials.gov (NCT00007020) 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.