Not recruitingRare disease

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

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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 genetic conditions known as Long-chain Fatty Acid Oxidation Disorders (LC-FAOD). These disorders affect the body's ability to break down certain fats into energy, especially during periods without food. The study will compare the effects of a treatment called Triheptanoin, also known by its code name UX007 and marketed as DOJOLVI®, with another treatment involving Even-chain, Medium-chain Triglycerides (MCT). Triheptanoin is an oral liquid that provides an alternative energy source for patients with LC-FAOD.

The purpose of the study is to evaluate how Triheptanoin affects the frequency of major clinical events, such as episodes of low blood sugar or muscle breakdown, in children with LC-FAOD. Participants in the study will be randomly assigned to receive either Triheptanoin or MCT. The study will be conducted in a double-blind manner, meaning neither the participants nor the researchers will know which treatment is being given to each participant. This helps ensure that the results are not biased.

The study will last for up to 24 months, during which participants will take the assigned treatment orally. Throughout the study, participants will be monitored for any changes in their condition, including the occurrence of major clinical events. The study aims to provide valuable information on the effectiveness of Triheptanoin in managing LC-FAOD and improving the quality of life for affected individuals.

The research process

The trial runs in 4 steps – from screening to follow-up. Each step says what happens and what the team monitors.

Step 1
Joining the study
Upon joining the study, the patient will be randomly assigned to receive either triheptanoin or medium-chain triglycerides (MCT).
The study aims to evaluate the effect of triheptanoin on major clinical events in patients with long-chain fatty acid oxidation disorders (LC-FAOD).
Step 2
Medication administration
The patient will take the assigned medication orally in the form of a liquid.
The dosage and frequency will be determined by the study protocol and adjusted as necessary by the study team.
Step 3
Monitoring and assessments
Throughout the study, the patient will undergo regular monitoring to assess the frequency and duration of major clinical events.
Additional assessments may include evaluations of heart function and liver fat content, depending on the patient's participation in specific sub-studies.
Step 4
Completion of the study
The study is expected to continue until June 2027.
Upon completion, the patient's health and response to the medication will be thoroughly evaluated to determine the overall effect of the treatment.

Who can join the trial?

11 criteria

Have a confirmed diagnosis of **Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)**. This includes specific conditions like **carnitine palmitoyl transferase (CPT) I deficiency**, **CPT II deficiency**, **carnitine/acylcarnitine translocase (CACT) deficiency**, **very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency**, **long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency**, and **mitochondrial trifunctional protein (TFP) deficiency**. The diagnosis must be confirmed by specific medical tests or genetic analysis.
Be a male or female from birth (including newborns) up to less than 18 years old.
Have a caregiver who is willing and able to help with all study requirements.
Have a legally authorized representative who can provide written consent after understanding the study details. The participant should also be able to give written agreement appropriate for their age.
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Have at least one of the following significant health issues related to LC-FAOD:
- At least 2 severe episodes of **metabolic decompensation** (such as low blood sugar, muscle breakdown, or worsening heart problems) in the past year, or 3 in the past 2 years, requiring emergency or hospital care.
- Repeated low blood sugar symptoms needing treatment.
- Prone to low blood sugar after short fasting periods (less than 4 to 12 hours, depending on age).
- Heart problems needing ongoing medical care or signs of heart failure.
- A sibling with the same genetic variant who has had major clinical events (MCEs).
- Genetic variants known or suspected to cause very low enzyme activity or severe disease symptoms.
- Females who can have children and males who are fertile must agree to use highly effective birth control methods from the time of consent until 5 days after the last study drug dose. Females must agree not to become pregnant, and males must agree not to father a child or donate sperm.

Who cannot join the trial?

4 criteria

Individuals who do not have a diagnosis of Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) cannot participate. LC-FAOD is a condition where the body has trouble breaking down certain fats to use for energy.
Participants must be within a specific age range, which is not specified here, but generally means that very young children or older adults might not be eligible.
Both males and females can participate, so gender is not a reason for exclusion.
People who are considered part of a vulnerable population may not be eligible. Vulnerable populations can include groups like children, pregnant women, or those with certain disabilities, who might need extra protection in research studies.

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Verified sites

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

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Hospital Sant Joan De Deu Barcelona
Esplugues De Llobregat, Spain
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Hospital Universitario 12 De Octubre
Madrid, Spain
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Instytut Pomnik Centrum Zdrowia Dziecka
Warsaw, Poland

Trial locations

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Investigated drugs

Triheptanoin
is a type of oil that is being studied to see if it can help reduce major clinical events in children with long-chain fatty acid oxidation disorders. These disorders affect how the body breaks down certain fats to produce energy, especially during periods without food. Triheptanoin is thought to provide an alternative energy source that might help improve the health of these patients.
Medium-chain Triglycerides (MCT)
are a type of fat that is easier for the body to break down and use for energy. In this study, MCT is being compared to triheptanoin to see which one is more effective in reducing major clinical events in children with long-chain fatty acid oxidation disorders. MCT is commonly used in dietary supplements and medical foods for people with certain metabolic disorders.

What is already known about the treatment

Triheptanoin
This medication is administered orally and is used in the form of an oil. It is currently being studied in clinical trials for its effectiveness in treating Long-chain Fatty Acid Oxidation Disorders (LC-FAOD). The main therapeutic indication is to reduce the frequency of major clinical events in patients with LC-FAOD. At the molecular level, triheptanoin provides an alternative energy source by supplying odd-chain fatty acids, which can be converted into energy in the body. It is classified as a medium-chain triglyceride.
Medium-chain Triglycerides (MCT)
This medication is also administered orally and is available in oil form. It is being compared to triheptanoin in clinical trials for its role in managing Long-chain Fatty Acid Oxidation Disorders (LC-FAOD). The primary therapeutic use is to serve as an energy source for patients with LC-FAOD, potentially reducing major clinical events. MCTs are metabolized quickly by the body, providing a rapid source of energy, and are classified as medium-chain triglycerides.

Investigated diseases

Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) – These are a group of rare genetic conditions that affect the body's ability to break down long-chain fatty acids into energy, especially during periods of fasting or increased energy demands. Individuals with LC-FAOD may experience muscle weakness, low blood sugar, and liver problems. The disorder can lead to episodes of metabolic crisis, which are characterized by symptoms such as extreme fatigue, muscle pain, and heart problems. These episodes can be triggered by illness, fasting, or intense exercise. Over time, repeated metabolic crises can cause damage to organs and tissues. Management of the condition often involves dietary adjustments to prevent energy deficits.