Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects

Long-term safety study of personalized cholic acid treatment in patients with bile acid synthesis defects - Cholic Acid

Status

Recruiting

Phases

Phase 4

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON56230

Enrollment

Registered

2020-03-27

Start date

2020-05-28

Completion date

Unknown

Last updated

2025-09-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Metabolic disease Zellweger spectrum disorder

Interventions

Cholic acid treatment

Eligibility

Age

No minimum to 99 Years

Inclusion criteria

Inclusion criteria: Bile acid synthesis defect due to single enzyme deficiency OR Zellweger spectrum disorder with at least one of the following hallmarks: steatorrhea (confirmed per local protocol), elevated transaminases (ALAT and/or ASAT), developmental delay, neurological symptoms

Exclusion criteria

Exclusion criteria: • Short life expectancy of 20 µmol/L) • Prolonged prothrombin time (PT > 15s not due to vitamin K deficiency) • Pregnancy and high total bile acid serum level ( > 40µmol/L) • Allergy to one of the components of CA capsules. Additional exclusion criteria are set for Zellweger spectrum disorder: • Increased liver enzymes during previous CA treatment • Normal biochemical parameters (THCA and/or DHCA

Design outcomes

Primary

Measure	Time frame
1. Degree of suppression of endogenous bile acid synthesis (decrease in urine and/or serum DHCA and THCA bile acid intermediates and increase in FGF-19) 2. Type and number of adverse events 3. Type and number of side effects (change in plasma transaminases (aspartate transaminase [AST], alanine transaminase [ALT]) and conjugated bilirubin)	—

Secondary

Measure	Time frame
- Increase in normal primary bile acids (increase in urine CA) - Change in serum ALT, AST, transminases, γ-glutamyltrans- peptidase, conjugated bilirubin, total bilirubin levels, gamma-GT, alkaline phosphatase, alpha-1-phetoprotein - Change in liver protein synthesis (determined by prothrombin time [PT]) - Change in degree of coagulopathy (measured by PT, aPTT, Factor V and Factor VII) - Change in weight gain (weight-for-height percentile) - Change total body length growth rate (cm/year; only in those with remaining growth potential). - Change in fat soluble vitamins (A,D,E) level and total cholesterol - Development of fibrosis (determined by fibroscan and ELF-test) - Development of cirrhosis - Neurological development	—

Measure

Time frame

- Increase in normal primary bile acids (increase in urine CA) - Change in serum ALT, AST, transminases, γ-glutamyltrans- peptidase, conjugated bilirubin, total bilirubin levels, gamma-GT, alkaline phosphatase, alpha-1-phetoprotein - Change in liver protein synthesis (determined by prothrombin time [PT]) - Change in degree of coagulopathy (measured by PT, aPTT, Factor V and Factor VII) - Change in weight gain (weight-for-height percentile) - Change total body length growth rate (cm/year; only in those with remaining growth potential). - Change in fat soluble vitamins (A,D,E) level and total cholesterol - Development of fibrosis (determined by fibroscan and ELF-test) - Development of cirrhosis - Neurological development

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Countries

Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)