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

Conditions

Bile acid synthesis defects

Brief summary

Degree of suppression of endogenous bile acid synthesis (decrease in serum [and urine] DHCA and THCA bile acid intermediates), Type and number of adverse events, Type and number of side effects

Detailed description

Increase in normal primary bile acids (increase in urine cholic acid [CA]), Change in serum ALT, AST, transaminases, γ-glutamyltrans- peptidase, conjugated bilirubin, total bilirubin levels, gamma-GT, alkaline phosphatase, alpha-1-phetoprotein, Change in liver protein synthesis (determined by albumin, pre-albumin and 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/cirrhosis (determined by fibroscan or US elastography), Neurological development

Related papers

No related papers found yet.

Interventions

DRUGCHOLIC ACID

Eligibility

Sex/Gender

All

Age

0 Years to No maximum

Design outcomes

Primary

Measure	Time frame
Degree of suppression of endogenous bile acid synthesis (decrease in serum [and urine] DHCA and THCA bile acid intermediates), Type and number of adverse events, Type and number of side effects	—

Secondary

Measure	Time frame
Increase in normal primary bile acids (increase in urine cholic acid [CA]), Change in serum ALT, AST, transaminases, γ-glutamyltrans- peptidase, conjugated bilirubin, total bilirubin levels, gamma-GT, alkaline phosphatase, alpha-1-phetoprotein, Change in liver protein synthesis (determined by albumin, pre-albumin and 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/cirrhosis (determined by fibroscan or US elastography), Neurological development	—

Measure

Time frame

Increase in normal primary bile acids (increase in urine cholic acid [CA]), Change in serum ALT, AST, transaminases, γ-glutamyltrans- peptidase, conjugated bilirubin, total bilirubin levels, gamma-GT, alkaline phosphatase, alpha-1-phetoprotein, Change in liver protein synthesis (determined by albumin, pre-albumin and 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/cirrhosis (determined by fibroscan or US elastography), Neurological development

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Countries

Netherlands

Outcome results

None listed