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Phase 3 N=85 Treatment

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

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

Enrolled (actual)
85
Serious AEs
25.3%
Results posted
Jul 2020
Primary outcome: Primary: Number of Participants With Excretion of Atypical Bile Acids in Urine by Category — 10; 51; 11; 9 Participants

Study Design & Population

Study type
Interventional
Phase
Phase 3
Interventions
Cholic Acids (Drug)
Age
Pediatric, Adult, Older Adult
Sex
All
Sponsor
Mirum Pharmaceuticals, Inc.
Primary completion
Dec 2009

Outcome Measures

OutcomeResultp-value
PRIMARY
Number of Participants With Excretion of Atypical Bile Acids in Urine by Category
10; 51; 11; 9; 16; 4
SECONDARY
Change in Liver Function Tests (LFTs) Measured in Serum
14; 49; 16; 13; 8; 2
SECONDARY
Liver Histology
19; 16; 5; 4; 3; 0
SECONDARY
Height and Weight
30.1; 44.0; 21.3; 42.3
SECONDARY
Adverse Events
79; 38

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

Eligibility 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 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.
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00007020). 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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