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Phase 3 N=5 Treatment

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

Enrolled (actual)
5
Serious AEs
0.0%
Results posted
May 2022
Primary outcome: Primary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants

Study Design & Population

Study type
Interventional
Phase
Phase 3
Interventions
Glycocholic Acid (Drug)
Age
Pediatric, Adult, Older Adult · 0+ yrs
Sex
All
Sponsor
Children's Hospital Medical Center, Cincinnati
Primary completion
Jan 2019

Outcome Measures

OutcomeResultp-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

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.

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.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT01589523). 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.

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