Peroxisomal biogenesis disorder Synonym: Zellweger spectrum disorder This syndrome encompasses a spectrum of severity in symptoms Previously the disorder was subdivided into three disorders based on the severity of symptoms
Conditions
Interventions
Product Name: cholic acid
Product Code: CA
Pharmaceutical Form: Capsule*
INN or Proposed INN: Cholic Acid
CAS Number: 81254
Current Sponsor code: CA
Other descriptive name: CHOLIC ACID
Concentration u
Sponsors
Department of Pediatric Gastroenterology, Academic Medical Centre
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Zellweger spectrum disorder At least one of the following hallmarks: steatorrhea, elevated transaminases, growth retardation, neurological symptoms Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: Short life expectancy based on severe multiple organ dysfunction in the first 6 months of life
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Biochemical and clinical effects of cholic acid supplementation in Zellweger spectrum disorder: - changes in bile acid pool - change in growth - change in fat soluble vitamines Feasibility and safety of cholic acid supplementation;Secondary Objective: Other biochemical and clinical effects of cholic acid supplementation in Zellweger spectrum disorder: - changes in liver abnormalities - change in neurological abnormalities ;Primary end point(s): 1- - Degree of suppression of endogenous bile acid synthesis - Increase in normal primary bile acids (increase in urine CA) 2- - Change in fat soluble vitamines levels 3- - Change in weight gain (weight-for-height percentile) - Change total body length growth rate (cm/year; only in those with remaining growth potential). | — |
Countries
Netherlands
Outcome results
None listed