Skip to content
Clinical Trials – home

Rare diseases

Investigational molecules

Locations

Our offerNewsroom

Not recruitingRare disease

Long-term Safety Study of Cholic Acid for Patients with Bile Acid Synthesis Defects

Verified siteRegistered drugNo placebo
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying a group of rare conditions known as bile acid synthesis defects. These are disorders where the body has trouble producing bile acids, which are important for digestion and absorbing fats and vitamins. The study is testing a treatment using cholic acid, a substance derived from bovine bile, which is given in the form of capsules. The purpose of the study is to investigate the long-term safety of this personalized treatment for patients with these defects.

Participants in the study will receive cholic acid capsules tailored to their specific needs. The study will monitor various health indicators over time, such as liver function and growth, to ensure the treatment is safe and effective. The study will also look at any side effects or adverse events that may occur during the treatment period.

The trial will last for several years, allowing researchers to gather comprehensive data on the safety of cholic acid treatment in individuals with bile acid synthesis defects. This information will help determine if this treatment can be a reliable option for managing these rare conditions in the long term.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, the patient will begin a long-term safety study focused on the use of cholic acid for treating bile acid synthesis defects.

    The study aims to assess the safety of personalized cholic acid treatment based on clinical and biochemical parameters.

  2. Step 2

    Medication administration

    The patient will receive cholic acid in capsule form, administered orally.

    The dosage and frequency of administration will be personalized based on the patient's specific needs and medical condition.

  3. Step 3

    Monitoring and assessments

    Throughout the study, the patient will undergo regular monitoring to evaluate the suppression of endogenous bile acid synthesis. This involves measuring the decrease in specific bile acid intermediates in serum and urine.

    The study will also track any adverse events or side effects experienced by the patient.

  4. Step 4

    Secondary assessments

    Additional assessments will include monitoring changes in normal primary bile acids, liver function tests, and levels of various enzymes and proteins.

    The study will also evaluate changes in weight, growth rate, vitamin levels, and neurological development.

  5. Step 5

    Study duration

    The study is expected to continue until December 30, 2027, providing a comprehensive evaluation of the long-term safety of cholic acid treatment.

Who can join the trial?

8 criteria

  • The patient must have a **bile acid synthesis defect**. This means there is a problem with how the body makes bile acids, which are important for digestion.
  • The defect can be due to specific enzyme deficiencies or a condition called **Zellweger spectrum disorder**. Enzymes are proteins that help chemical reactions happen in the body.
  • The patient must have at least one of the following signs:
    • **Steatorrhea**: This is when there is too much fat in the stool, making it look greasy.
    • **Elevated transaminases**: These are liver enzymes, and high levels can indicate liver problems. They are often checked with blood tests.
    • **Developmental delay**: This means the patient is not reaching milestones in learning or physical skills as expected for their age.
    • **Neurological symptoms**: These are problems related to the brain and nerves, like difficulty with movement or coordination.
    • The patient can be of any gender, meaning both males and females are eligible.
    • The patient must be within certain age ranges, which include children and adults.

Who cannot join the trial?

1 criterion

  • There are no specific reasons listed that would prevent a patient from participating in this study.
Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.

We usually reply within a few days

Verified sites

All sites with verified contact details – recruitment status may not be available; ask directly

  • Responsive

    Amsterdam UMC

    The NetherlandsAmsterdam, The Netherlands

Trial locations

Where you can join this trial

Countries are shaded by recruitment status. Click a recruiting country to ask about joining there.

Not recruiting
Not finding your country?

Not sure what to do next?

Joining a clinical trial can seem overwhelming. We guide you step by step, so you know exactly what to expect and how we support you through the process.

See the full process and FAQ

Investigated drugs

Cholic Acid is a medication used in this clinical trial to treat patients with bile acid synthesis defects. It is a type of bile acid that helps the body digest fats and absorb fat-soluble vitamins. In this study, the focus is on assessing the long-term safety of using cholic acid capsules, which are personalized for each patient based on their specific clinical and biochemical needs.

What is already known about the treatment

Cholic Acid – Cholic acid is administered orally in the form of capsules. It is currently being studied in clinical trials to assess its long-term safety for treating bile acid synthesis defects. This medication is primarily used to manage conditions where the body cannot produce bile acids properly, leading to liver and metabolic issues. At the molecular level, cholic acid works by supplementing the body's natural bile acids, aiding in the digestion and absorption of fats and fat-soluble vitamins. It is classified as a bile acid replacement therapy.

Investigated diseases

Bile Acid Synthesis Defects – These are rare genetic disorders that affect the body's ability to produce bile acids, which are crucial for digesting fats and absorbing fat-soluble vitamins. The condition can lead to the accumulation of toxic bile acid intermediates in the liver and bloodstream, potentially causing liver damage. Symptoms may include jaundice, poor growth, and developmental delays. Over time, individuals may experience liver dysfunction, which can manifest as changes in liver enzyme levels and protein synthesis. The disease can also affect the body's ability to clot blood properly, leading to coagulopathy. Monitoring of growth, vitamin levels, and liver health is essential in managing the progression of this condition.
Trial detailsLast updated 2 Oct 2026
Age18+ yearsPhasePhase ITrial ID2024-518652-23-00Estimated enrolment8 patientsSponsorAmsterdam UMC

sourced from the EU Clinical Trials Register and site verification

Want to learn more about this trial or check if you can participate?

Clinical Trials Concierge

Prefer not to search? Our Concierge searches the trials for you.

Tell us about your condition – we search every trial in Europe and connect you with the right site.