Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum)

Cholic acid treatment in Peroxisomal Biogenesis Disorders (Zellweger spectrum): biochemical and clinical effects

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

ISRCTN

Registry ID

ISRCTN96480891

Enrollment

Registered

2012-01-30

Start date

2012-04-01

Completion date

Unknown

Last updated

2016-10-17

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

Conditions

Zellweger spectrum disorder Neonatal Diseases Zellweger spectrum disorder

Interventions

Investigational product: Cholic acid is the predominant human bile acid. In this study, cholic acid will be supplemented for 9 months in a regular dose. No placebo will be used. Use of co-interventio

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: 1. Zellweger spectrum disorder 2. At least one of the following hallmarks: 2.1. Steatorrhea 2.2. Elevated transaminases 2.3. Growth retardation 2.4. Neurological symptoms

Exclusion criteria

Exclusion criteria: Short life expectancy (severe multiple organ dysfunction at the time of diagnosis)

Design outcomes

Primary

Measure	Time frame
1. Degree of suppression of endogenous bile acid synthesis [Decrease in urine 3 alpha,7 alpha -dihydroxycholestanoic acid (DHCA) and 3 alpha,7alpha,12 alpha - trihydroxycholestanoic acid (THCA) bile acid intermediates and increase in FGF-19] 2. Increase in normal primary bile acids [increase in urine cholic acid (CA)] 3. Change in fat soluble vitamins levels (T= 24 weeks versus T= 42 weeks) 4. Change in weight gain (weight-for-height percentile) (T= 36 weeks versus T=72 weeks) 5. Change total body length growth rate (cm/year; only in those with remaining growth potential) 6. Feasiibility and side effects of cholic acid supplementation; diarrhea, vomiting, liver dysfunction and others Measured at 0, 24, 36, 48, 72 weeks	—

Measure

Time frame

1. Degree of suppression of endogenous bile acid synthesis [Decrease in urine 3 alpha,7 alpha -dihydroxycholestanoic acid (DHCA) and 3 alpha,7alpha,12 alpha - trihydroxycholestanoic acid (THCA) bile acid intermediates and increase in FGF-19] 2. Increase in normal primary bile acids [increase in urine cholic acid (CA)] 3. Change in fat soluble vitamins levels (T= 24 weeks versus T= 42 weeks) 4. Change in weight gain (weight-for-height percentile) (T= 36 weeks versus T=72 weeks) 5. Change total body length growth rate (cm/year; only in those with remaining growth potential) 6. Feasiibility and side effects of cholic acid supplementation; diarrhea, vomiting, liver dysfunction and others Measured at 0, 24, 36, 48, 72 weeks

—

Secondary

Measure	Time frame
1. Change in seizure frequency 2. Change in the obtained developmental mile stones 3. Change serum transminases and ?-glutamyltrans- peptidase levels 4. Change in fibroscan liver elasticity measurements 5. Change in liver protein synthesis 6. Change in markers of peroxisomal / mitochondrial functioning Measured at 0, 24, 36, 48, 72 weeks	—

Countries

Netherlands, United States of America

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026