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

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

NL-OMON

Registry ID

NL-OMON25657

Enrollment

Registered

2020-05-18

Start date

2020-05-18

Completion date

Unknown

Last updated

2024-02-28

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

Conditions

Bile acid synthesis defects (BASD), 3ß-hydroxy-?5-C27-steroid oxidoreductase, ?4-3-oxosteroid-5ß-reductase, cholesterol 7a-hydroxylase (CYP7A1), and a-methylacyl-CoA racemase (AMACR), Zellweger spectrum disorder

Interventions

Cholic Acid

Eligibility

Inclusion criteria

Inclusion criteria: Bile acid synthesis defect due to: o single enzyme deficiency in either: - 3ß-hydroxy-?5-C27-steroid oxidoreductase - ?4-3-oxosteroid-5ß-reductase - a-methylacyl-CoA racemase (AMACR) - cholesterol 7a-hydroxylase (CYP7A1) o OR Zellweger spectrum disorder ? At least one of the following hallmarks: steatorrhea (confirmed per local protocol), elevated transaminases, developmental delay, neurological symptoms

Exclusion criteria

Exclusion criteria: Single enzyme deficiency patients will be excluded from participation when at least one of the following criteria is present: - Short life expectancy of 20 µmol/L) - Prolonged prothrombin time (PT > 15s not due to vitamin K deficiency) - Kidney dysfunction (eGFR 40µmol/L) - Allergy to one of the components of CA capsules. Zellweger spectrum disorder patients will be excluded from participation when at least one of the following criteria is present: - Increased liver enzymes during previous CA treatment - Normal biochemical parameters (THCA and/or DHCA =1.0 µmol/L) - Short life expectancy of 20 µmol/L) - Prolonged prothrombin time (PT > 15s not due to vitamin K deficiency) - Kidney dysfunction (eGFR 40µmol/L) - Allergy to one of the components of CA capsules.

Design outcomes

Primary

Measure	Time frame
1. Degree of suppression of endogenous bile acid synthesis 2. Type and number of adverse events 3. Type and number of side effects	—

Secondary

Measure	Time frame
1. Increase in normal primary bile acids 2. Change in liver chemistry 3. Change in height-weight 4. Change in fat soluble vitamins- and total cholesterol levels 5. Development of fibrosis/cirrhosis 6. Neurological development	—

Contacts

Public ContactYasmin Polak

Amsterdam UMC

y.polak@amsterdamumc.nl06 50503314

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)