NCT00007020

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

Investigation in the Pathogenesis of Liver Disease in Patients With Inborn Errors of Bile Acid Metabolism

• Status: Completed
• Phase: Phase 3
• Study type: Interventional
• Enrollment: 85 (actual)
• Sponsor: Mirum Pharmaceuticals, Inc. · Industry
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Detailed description

Investigational Plan: A Phase III, open label, single arm, nonrandomized, non-comparative, compassionate treatment study of cholic acid in the treatment of defects of bile acid metabolism. The study was begun with a single study site at Cincinnati Children's Hospital Medical Center (CCHMC), but in 2005 was expanded so that compassionate treatment could be provided to additional patients who had been identified with inborn errors of bile metabolism through the center's screening/diagnostic program. Patients who were screened were contacted and evaluated with respect to the inclusion/exclusion criteria. Signed informed consent by the patient and/or parents/legal guardian was obtained as soon as it is confirmed that the patient met inclusion/exclusion criteria and the parents/guardian would agree for the child to participate in the study. The primary interventions for the study were: 1. Administration of study drug. 2. Collection of baseline physical exam, vital signs, blood and urine samples for laboratory tests. 3. Collection of periodic physical exam, vital signs, blood and urine samples for laboratory tests during the period of administration of the study drug. 4. Collection of any adverse event information. Time and Events Schedule: Baseline: 1. Confirm eligibility 2. Obtain written informed consent from patient and/or parents/legal guardian 3. Collect demographic data and disease and medication history, including family history Baseline and Ongoing: 4. Obtain body weight 5. Record adverse events 6. Obtain blood and urine samples for laboratory tests 7. Initiate study drug therapy \& monitor study drug therapy and adjust dose as needed

Conditions

• Infantile Refsum's Disease
• Zellweger Syndrome
• Adrenoleukodystrophy
• Peroxisomal Disorders
• Cholestasis

Interventions

Type	Name	Description
DRUG	Cholic Acids	10-15 mg/kg body weight/day taken orally.

Timeline

• Start date: 1992-01-01
• Primary completion: 2009-12-01
• Completion: 2009-12-01
• First posted: 2000-12-07
• Last updated: 2023-10-03
• Results posted: 2020-07-15

Locations

1 site across 1 country: United States