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

Phase 2

Completed

• Conditions: Peroxisomal biogenesis disorder; Zellweger spectrum disorder; 10027424

• Registration Number: NL-OMON39837
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 20

Inclusion Criteria

Phenotypically mild Zellweger spectrum disorder.
At least one of the following hallmarks: steatorrhea, elevated transaminases, growth retardation, neurological symptoms

Exclusion Criteria

Short life expectancy based on severe multiple organ dysfunction at the time of diagnosis

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>1- the degree of suppression of endogenous bile acid synthesis<br /><br>2- change in fat soluble vitamins levels<br /><br>3- change in weight and length growth<br /><br>4- side effects of cholic acid suppementation</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>1- change in seizure frequency - change in the obtained developmental mile<br /><br>stones<br /><br>2- change liver enzymes - change in fibroscan liver elasticity measurements -<br /><br>change in liver protein synthesis<br /><br>3- change in markers of peroxisomal/mitochondrial functioning</p><br>