Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects

Launched by JOHANNES HAEBERLE · Jul 3, 2025

Keywords

ClinConnect Summary

This clinical trial is studying how the liver works in people with a rare condition called citrin deficiency, compared to healthy individuals. Citrin deficiency affects how the liver processes energy and removes ammonia, a waste product, from the body. This study will use special tests involving safe, labeled substances to see how well the liver performs these important tasks. It’s the first time these detailed liver functions will be measured in people with this condition.

Adults between 18 and 65 years old who have been genetically diagnosed with citrin deficiency may be eligible to participate, along with healthy volunteers who closely match them in age, sex, and ethnicity. Participants will be asked to undergo tests where they consume small amounts of labeled substances, and their liver’s activity will be measured through blood and other samples. People with other health issues, pregnant women, or those on certain medications or diets won’t be able to join. This study aims to better understand how citrin deficiency affects the liver, which could help improve future treatments.

Gender

ALL

Eligibility criteria

• Inclusion criteria for AACD patients are:
• • Subjects with citrin deficiency, confirmed by genetic analysis to carry pathogenic variant(s) in the SLC25A13 gene
• • Age from 18 years to 65 years inclusive
• • Male or female
• • Written informed consent has been given
• • Understands and is willing, able and likely to comply with study procedures and restrictions
• Inclusion criteria for healthy subjects are:
• • Age from 18 years to 65 years inclusive, and not more than five years younger or older than the specified paired participant from the AACD group
• • Same sex as the specified paired participant from the AACD group
• • Same ethnicity the specified paired participant from the AACD group
• • Written informed consent has been given
• • Understands and is willing, able and likely to comply with study procedures and restrictions
• Exclusion criteria for AACD patients are:
• • acute and chronic disease requiring treatment of any kind, other than his/her AACD
• • females who are pregnant or lactating or attempting to become pregnant
• • use of any medication which, in the opinion of the investigator, is likely to interfere with liver function
• Exclusion criteria for healthy subjects are:
• • carry any pathogenic variant in the SLC25A13 gene
• • current or recurrent disease that could affect the metabolic function of the liver
• • acute and chronic disease requiring treatment of any kind
• • females who are pregnant or lactating or attempting to become pregnant
• • use of any medication which, in the opinion of the investigator, is likely to interfere with liver function
• • weight loss ≥10% within 3 months before study screening
• • daily alcohol consumption of more than 2 standard-sized beer for men and more than 1 standard-sized beer for women, or the equivalent
• • BMI \> 30 kg/m2
• • currently smoking \>1 cigarette daily
• • liver transplant recipients
• • type 1 and 2 diabetes
• • currently on a ketogenic diet
• • currently taking medium chain triglyceride (MCT) supplements