Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid

• Register: ClinicalTrials.gov
• Last refreshed on: 9 October 2023
• Main ID: NCT00007020
• Date of registration: 06/12/2000
• Prospective Registration: No
• Primary sponsor: Mirum Pharmaceuticals, Inc.
• Public title: Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
• Scientific title: Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism
• Date of first enrolment: January 1992
• Target sample size: 85
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/ct2/show/NCT00007020
• Study type: Interventional
• Study design: Allocation: N/A. Intervention model: Single Group Assignment. Primary purpose: Treatment. Masking: None (Open Label).
• Phase: Phase 3

Countries of recruitment

United States

Contacts

• Name: Kenneth Setchell, PhD
• Affiliation: Children's Hospital Medical Center, Cincinnati

• Name: James Heubi, MD
• Affiliation: Children's Hospital Medical Center, Cincinnati

Key inclusion & exclusion 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 < age 3 months

- Children presenting for evaluation of cholestasis defined as a conjugated bilirubin >
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.



Age minimum: N/A
Age maximum: N/A
Gender: All

Health Condition(s) or Problem(s) studied

Infantile Refsum's Disease

Adrenoleukodystrophy

Peroxisomal Disorders

Zellweger Syndrome

Cholestasis

Intervention(s)

Drug: Cholic Acids

Primary Outcome(s)

Number of Participants With Excretion of Atypical Bile Acids in Urine by Category [Time Frame: Baseline, then every 1, 3, or 6 months (depending on protocol version) for an average of 2.8 years]

Secondary Outcome(s)

Adverse Events [Time Frame: Baseline, then every 1, 3, or 6 months (depending on protocol version) for an average of 2.8 years]

Height and Weight [Time Frame: Baseline, then every 1, 3, or 6 months (depending on protocol version) for an average of 2.8 years]

Liver Histology [Time Frame: At baseline (if no historical data were available) and between 1 and 6 months following treatment start.]

Change in Liver Function Tests (LFTs) Measured in Serum [Time Frame: Baseline, then every 1, 3, or 6 months (depending on protocol version) for an average of 2.8 years]

Secondary ID(s)

NCRR-M01RR08084-0009

CAC-91-10-10

CCHMC-91-10-10

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

Children's Hospital Medical Center, Cincinnati

Results

• Results available: Yes
• Date Posted: 15/07/2020
• URL: https://clinicaltrials.gov/ct2/show/results/NCT00007020