Clinical trial NCT01438411: Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis
Official title: An Open Label, Single Center, Nonrandomized Continuation Study of Cholic Acid Capsules to Treat Subjects With Inborn Errors of Bile Acid Synthesis
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE3
Conditions: Bile Acid Synthesis Defect
Keywords: Cholic Acid
Inborn Error
Bile Acid Metabolism
Inborn Error of Bile Acid Synthesis
Lead sponsor: Mirum Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2011-09-22
Enrollment: 53
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

Brief summary: The primary purpose of the study is to evaluate the therapeutic efficacy and safety of cholic acid in subjects with identified inborn errors of bile acid synthesis.

Detailed description: This is a Phase 3, open-label, single center, nonrandomized study. This continuation protocol will consist of eligible subjects who have previously received cholic acid through the Cincinnati Children's Hospital Medical Center (CCHMC) Compassionate Use (91-10-10), CAC-001-01 study protocols and newly diagnosed subjects.

New subjects will be infants, children, adolescents identified from urine samples obtained from the clinical services of programs across the U.S., Canada, South America, Europe, and Asia. Subject or their legal representative will receive information regarding the study, and the principle investigator (PI) or designee will obtain informed consent. Serum and urine samples will be collected and sent to CCHMC to measure complete bile acid profile analysis. Clinical records including medical history, physical exams, vital signs, and laboratory assessments performed as standard of care will be reviewed to ensure subject eligibility and determine baseline values.

Subjects who have participated in Protocols conducted under IND 45,470 will be consented to continue to receive cholic acid capsules under this continuation protocol. Subjects will serve as their own controls and no placebo will be utilized.

Eligibility criteria: Inclusion Criteria:

Subjects who received cholic acid through CCHMC protocols 91-10-10 or CAC-002-01 and meet the following criteria are eligible for study participation.

1. The subject and/or parent/legal guardian must have provided informed consent prior to study start.
2. The subject must have a diagnosis of an inborn error of bile acid synthesis.
3. The subject must be willing and able to comply with all study assessments and procedures.
4. Subjects with other organ dysfunction will not be excluded

Primary outcomes:
measure: Change in Atypical Urinary Bile Acid Excretion by FAB-MS (Fast-Atom-Bombardment Ionization-Mass Spectrometry)
timeFrame: At baseline, then every 12 months for an average of 3.5 years
Secondary outcomes:
measure: Evaluation of Serum Transaminases: ALT
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Evaluation of Serum Transaminases: AST
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Clinical Laboratory Results: Bilirubin
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Clinical Laboratory Results: Gamma Glutamyl Transferase (GGT)
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Clinical Laboratory Results: Alkaline Phosphatase
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Clinical Laboratory Results: Prothrombin Time
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Physical Examinations: Height
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Physical Examinations: Body Weight
timeFrame: At baseline, then every 12 months for an average of 3.5 years
measure: Incidence of Adverse Events
timeFrame: At baseline, then every 12 months for an average of 3.5 years
Other outcomes:
Locations:
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
Study officials:
affiliation: Children's Hospital Medical Center, Cincinnati
name: James E Heubi, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Children's Hospital Medical Center, Cincinnati
name: Kenneth Setchell, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: Heubi JE, Setchell KDR. Open-label Phase 3 Continuation Study of Cholic Acid in Patients With Inborn Errors of Bile Acid Synthesis. J Pediatr Gastroenterol Nutr. 2020 Apr;70(4):423-429. doi: 10.1097/MPG.0000000000002618.