Trial Outcomes & Findings for GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis (NCT NCT01589523)

NCT ID: NCT01589523

Last Updated: 2022-06-08

Results Overview

This is the number of participants with bile acid amidation defects treated with oral glycocholic acid (15 milligrams/kilograms (mg/kg) of body weight/day (bw/day))

• Recruitment status: COMPLETED
• Study phase: PHASE3
• Target enrollment: 5 participants
• Primary outcome timeframe: Up to 10 years
• Results posted on: 2022-06-08

Participant Flow

Participant milestones

Measure	Glycocholic Acid 15 milligrams/kilograms (mg/kg) of body weight/day (bw/day)
Overall Study STARTED	5
Overall Study COMPLETED	4
Overall Study NOT COMPLETED	1

Reasons for withdrawal

Measure	Glycocholic Acid 15 milligrams/kilograms (mg/kg) of body weight/day (bw/day)
Overall Study Withdrawal by Subject	1

Baseline Characteristics

GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis

Baseline characteristics by cohort

Measure	Glycocholic Acid n=5 Participants 15 milligrams/kilograms (mg/kg) of body weight/day (bw/day)
Age, Categorical <=18 years	5 Participants n=5 Participants
Age, Categorical Between 18 and 65 years	0 Participants n=5 Participants
Age, Categorical >=65 years	0 Participants n=5 Participants
Sex: Female, Male Female	4 Participants n=5 Participants
Sex: Female, Male Male	1 Participants n=5 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	4 Participants n=5 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	1 Participants n=5 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants
Race (NIH/OMB) Asian	0 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	0 Participants n=5 Participants
Race (NIH/OMB) White	5 Participants n=5 Participants
Race (NIH/OMB) More than one race	0 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=5 Participants
Region of Enrollment United States	5 Participants n=5 Participants

PRIMARY outcome

Timeframe: Up to 10 years

This is the number of participants with bile acid amidation defects treated with oral glycocholic acid (15 milligrams/kilograms (mg/kg) of body weight/day (bw/day))

Outcome measures

Measure	15 mg/Kg Body Weight/Day n=5 Participants Open-label, no placebo group. Participants with bile acid conjugation defect confirmed by urine mass spectrometry analysis receiving glycocholic acid (15 mg/kg bw/day)
Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation.	5 Participants

PRIMARY outcome

Timeframe: Average of 6 months, average 12 months, and average of after year 1 to 10 years

Semi-quantitative descriptive evaluation of the levels of atypical bile acids in urine measured by mass spectrometry (FAB MS) based on a scale of 0 = absent or traces levels, 1 = low levels, 2 = moderate levels, 3 = high levels using the signal/noise ratio and intensity of ions. Atypical bile acids evaluated included m/z 407 (unconjugated cholic acid), m/z 471 (dihydroxy-choleanoic-sulfate) and m/z 583 (trihydroxy-choleanoic glucuronide).

Outcome measures

Measure	15 mg/Kg Body Weight/Day n=5 Participants Open-label, no placebo group. Participants with bile acid conjugation defect confirmed by urine mass spectrometry analysis receiving glycocholic acid (15 mg/kg bw/day)
Evaluation of Levels of Atypical Bile Acid Metabolites After GCA Treatment Compared 6 months average	1.4 score on a scale Interval 0.0 to 2.0
Evaluation of Levels of Atypical Bile Acid Metabolites After GCA Treatment Compared 12 months average	1 score on a scale Interval 1.0 to 1.0
Evaluation of Levels of Atypical Bile Acid Metabolites After GCA Treatment Compared average of year 1 to 10	1 score on a scale Interval 0.0 to 3.0

SECONDARY outcome

Timeframe: Comparison between baseline and post-treatment (average of available timepoints after year 1 through year 10)

Liver function tests Alanine Aminotransferease (ALT)

Outcome measures

Measure	15 mg/Kg Body Weight/Day n=5 Participants Open-label, no placebo group. Participants with bile acid conjugation defect confirmed by urine mass spectrometry analysis receiving glycocholic acid (15 mg/kg bw/day)
Changes in Liver Function Tests of ALT From Baseline to Post-treatment Baseline	43.8 units per liter (U/L) Standard Error 10.5
Changes in Liver Function Tests of ALT From Baseline to Post-treatment average of available timepoints after year 1 through year 10	31.7 units per liter (U/L) Standard Error 2.2

SECONDARY outcome

Timeframe: Comparison between baseline and post-treatment (average of available timepoints after year 1 through year 10)

Measure of Aspartate Aminotransferase (AST)

Outcome measures

Measure	15 mg/Kg Body Weight/Day n=4 Participants Open-label, no placebo group. Participants with bile acid conjugation defect confirmed by urine mass spectrometry analysis receiving glycocholic acid (15 mg/kg bw/day)
Change in Liver Function Test: AST From Baseline to Post-treatment Baseline	65 units per liter (U/L) Standard Error 14.2
Change in Liver Function Test: AST From Baseline to Post-treatment average of available timepoints after year 1 through year 10	39 units per liter (U/L) Standard Error 3.5

SECONDARY outcome

Timeframe: Pre-treatment and post treatment (average of available timepoints after year 1 through year 10)

Population: Missing data on Vitamin D from 2 participants.

Measure Vitamin D levels nanograms per milliliter (ng/mL)

Outcome measures

Measure	15 mg/Kg Body Weight/Day n=3 Participants Open-label, no placebo group. Participants with bile acid conjugation defect confirmed by urine mass spectrometry analysis receiving glycocholic acid (15 mg/kg bw/day)
Change in Vitamin D, 25-OH Measure From Baseline to Post-treatment Baseline	1.0 nanograms per milliliter (ng/mL) Standard Error 0.8
Change in Vitamin D, 25-OH Measure From Baseline to Post-treatment average of available timepoints after year 1 through year 10	25.7 nanograms per milliliter (ng/mL) Standard Error 5.9

Adverse Events

Glycocholic Acid

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Ken Setchell, PhD

Cincinnati Children's Hospital Medical Center

Phone: 5136364548

Email: kenneth.setchell@cchmc.org

Results disclosure agreements

• Principal investigator is a sponsor employee
• Publication restrictions are in place