Ongoing Clinical Trials for Bile Acid Synthesis Disorder
There is currently 1 ongoing clinical trial investigating treatment options for bile acid synthesis disorder, a rare genetic condition affecting the body’s ability to produce bile acids needed for digestion and fat absorption. The trial is evaluating the long-term safety of cholic acid treatment and is being conducted in the Netherlands.
Clinical trial locations
Long-term Safety Study of Cholic Acid for Patients with Bile Acid Synthesis Defects
This clinical trial is investigating the long-term safety of cholic acid treatment for patients with bile acid synthesis defects. These are rare genetic disorders where the body cannot properly produce bile acids, which are essential substances for digesting fats and absorbing fat-soluble vitamins. Without adequate bile acid production, toxic substances can build up in the liver and bloodstream, potentially causing serious liver damage and other health problems.
Inclusion criteria: The trial is open to patients of any gender and various age groups, including children and adults, who have been diagnosed with a bile acid synthesis defect. This diagnosis may be due to specific enzyme deficiencies or a condition called Zellweger spectrum disorder. To qualify, patients must show at least one of the following signs: steatorrhea (excessive fat in stool, making it appear greasy), elevated transaminases (high liver enzyme levels indicating potential liver problems), developmental delay (not reaching expected learning or physical milestones), or neurological symptoms (problems with brain and nerve function such as movement or coordination difficulties).
Exclusion criteria: There are no specific exclusion criteria listed for this study, making it broadly accessible to patients who meet the inclusion requirements.
Trial focus and goals: The primary goal of this study is to evaluate the safety of personalized cholic acid treatment over an extended period, with the trial expected to continue until December 2027. Participants will receive cholic acid in capsule form, taken orally, with dosages customized to each patient’s specific needs and medical condition. Throughout the study, researchers will closely monitor how well the treatment suppresses the body’s abnormal bile acid production by measuring specific bile acid intermediates in blood and urine samples. The study will also track liver function through regular blood tests, monitor growth patterns and weight changes, check vitamin levels, assess neurological development, and record any side effects or adverse events. This comprehensive monitoring will help determine whether cholic acid can be a reliable long-term treatment option for managing these rare conditions.
Investigational drug: The medication being tested is cholic acid, a bile acid derived from bovine sources and administered in capsule form. Cholic acid works by supplementing the body’s natural bile acids, helping with fat digestion and absorption of fat-soluble vitamins. It is classified as a bile acid replacement therapy and is personalized for each patient based on their clinical and biochemical needs.
Summary
Currently, only one clinical trial is actively recruiting patients with bile acid synthesis disorder, and it is being conducted in the Netherlands. This reflects the rarity of these conditions and the specialized nature of research in this area. The trial focuses exclusively on cholic acid as a treatment option, investigating its long-term safety profile through comprehensive monitoring of liver function, growth, development, and overall health parameters. The study’s extended timeline, running until 2027, demonstrates a commitment to understanding the sustained effects of this bile acid replacement therapy. Patients interested in participating should note that the trial has relatively open eligibility criteria with no specific exclusion factors listed, making it accessible to a broad range of individuals affected by these rare genetic disorders.
