Fatty acid oxidation disorder Trials in Disease

Study on the Effects of Triheptanoin and Medium-chain Triglycerides in Children with Long-chain Fatty Acid Oxidation Disorders

This clinical trial focuses on long-chain fatty acid oxidation disorders (LC-FAOD), a group of rare genetic conditions that affect how the body breaks down certain fats into energy. These disorders are particularly problematic during periods when a person hasn't eaten for a while, as the body struggles to produce the energy it needs from stored fats.

Main focus and goal: The study aims to compare two different treatments and see which one is better at preventing serious health problems in children with LC-FAOD. Researchers will evaluate how well triheptanoin (also known as UX007 or marketed as DOJOLVI®) works compared to medium-chain triglycerides (MCT). Both treatments are given as oral liquids that provide alternative energy sources for children whose bodies cannot break down fats normally. The study will track how often participants experience major clinical events such as episodes of dangerously low blood sugar or muscle breakdown over a period of up to 24 months.

Investigational drugs: The study tests two medications. Triheptanoin is a special type of oil that provides odd-chain fatty acids, which the body can convert into energy more easily than long-chain fats. Medium-chain triglycerides (MCT) are another type of fat that the body can break down and use for energy more quickly than the long-chain fats that cause problems in LC-FAOD. Both are given orally in liquid form.

Who can participate (inclusion criteria): Children from birth up to 18 years old with a confirmed diagnosis of LC-FAOD can join this study. The diagnosis must be confirmed through specific medical tests or genetic analysis and includes conditions such as carnitine palmitoyl transferase (CPT) I or II deficiency, carnitine/acylcarnitine translocase (CACT) deficiency, very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, or mitochondrial trifunctional protein (TFP) deficiency.

To be eligible, participants must also have experienced significant health problems related to their condition. This includes having at least 2 severe metabolic crises in the past year (or 3 in the past 2 years) that required emergency or hospital care, repeated low blood sugar symptoms needing treatment, becoming prone to low blood sugar after short fasting periods, heart problems requiring ongoing medical care, a sibling with the same genetic variant who has had major complications, or genetic variants known to cause very severe disease.

Each participant must have a caregiver who can help with all study requirements and a legally authorized representative who can provide written consent. Teenagers and older children who can understand will also be asked to give their agreement to participate. For participants who are old enough to have children, effective birth control methods must be used throughout the study.

Who cannot participate (exclusion criteria): People without a confirmed diagnosis of LC-FAOD cannot join the study. Participants must be within the specified age range of birth to under 18 years old, so older teenagers and adults are not eligible. Both males and females can participate, so gender is not a reason for exclusion.

Study design: This is a double-blind study, which means neither the participants nor the researchers will know which treatment each child is receiving during the study. Participants will be randomly assigned to receive either triheptanoin or MCT. Throughout the 24-month study period, participants will take their assigned medication orally and undergo regular monitoring to assess the frequency and duration of major clinical events. Some participants may also have additional assessments of heart function and liver fat content as part of specific sub-studies. The trial is expected to continue until June 2027.