Study of glycerol phenylbutyrate (oral liquid) for treatment of fatigue in patients with pyruvate dehydrogenase deficiency

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What is this study about?

This clinical trial focuses on studying Pyruvate Dehydrogenase Deficiency, a rare genetic condition that affects how the body processes certain nutrients. The study will test a medication called Glycerol Phenylbutyrate (also known as RAVICTI), which is given as a liquid that can be taken by mouth or through feeding tubes.

The purpose of this research is to evaluate how well Glycerol Phenylbutyrate works in reducing tiredness and fatigue in people who have Pyruvate Dehydrogenase Deficiency. The study will last for 6 months, during which participants will take the medication daily. The maximum daily dose of the medication will be 12 grams.

The treatment will be given as a liquid medicine that can be taken orally or administered through a nasogastric tube or gastrostomy tube (a feeding tube that goes directly into the stomach). Throughout the study, doctors will monitor how the treatment affects participants’ energy levels and overall well-being using specialized questionnaires that measure fatigue levels.

1 Initial assessment

Your doctor will perform baseline evaluations and complete the PedsQL™ Multidimensional Fatigue Scale questionnaire to assess your current fatigue level

This initial assessment will establish your starting point (M0) for measuring treatment effectiveness

2 Starting medication

You will begin taking RAVICTI (glycerol phenylbutyrate) oral liquid

The medication is administered through mouth, nasogastric tube, or stomach feeding tube

Your doctor will provide specific dosing instructions for the liquid medication

3 Treatment period

Continue taking RAVICTI as prescribed for 6 months

Regular follow-up visits will be scheduled to monitor your progress

Your doctor will track any changes in your condition during this period

4 6-month evaluation

After 6 months of treatment (M6), you will complete the fatigue scale questionnaire again

Your doctor will compare the results with your initial assessment

A 20% improvement in the overall score indicates treatment success

5 Study completion

Final medical evaluation will be performed

Your doctor will discuss the results with you

Continue using effective contraception for 7 days after study completion if applicable

Who Can Join the Study?

Age requirement: Must be either a child between 2 and 17 years old OR an adult between 18 and 25 years old
Must have confirmed PDH deficiency (a rare genetic condition affecting energy production in cells) proven through genetic testing with specific variants in one of these genes:
- PDHA1 gene with specific type of genetic change
- PDHB or DLAT genes with specific genetic changes
- PDHX gene with specific genetic changes
For women who can become pregnant:
- Must have a negative pregnancy test
- Must use effective birth control methods (such as birth control pills, IUD, barrier methods with spermicide, or abstinence) until 7 days after study end
For men:
- Must use effective birth control (condom or abstinence) until 7 days after study end
Must have legal representative’s signature for participation
Must have active social security coverage

Who Cannot Join the Study?

Current treatment with sodium phenylbutyrate (a medication used to treat urea cycle disorders)
Known allergic reactions to glycerol phenylbutyrate or similar substances
Severe liver problems or abnormal liver function tests
Pregnant women or women planning to become pregnant during the study
Breastfeeding mothers
Participation in another clinical trial within the last 30 days
Any serious medical condition that could interfere with study participation
Unable to follow study procedures or attend scheduled visits
History of non-compliance with medical treatments
Mental conditions that could affect the ability to provide informed consent
Active substance abuse or addiction
Use of medications that could interact with the study drug

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

Site Name	City	Country	Status
Centre Hospitalier Universitaire De Lille	Lille	France

Other Sites

Site Name	City	Country
Centre Hospitalier Universitaire De Montpellier	Montpellier	France
Centre Hospitalier Lyon Sud	Pierre Benite	France
Hopital Beaujon	Clichy	France
Akqazfcbbv Pxogvpyr Hyouzxjy Dl Mhqordngo	Marseille	France

Trial status

Country	Status	Recruitment Start
France	Recruiting	01.05.2025

Trial locations

Investigated drugs:

Glycerol Phenylbutyrate

Glycerol Phenylbutyrate (RAVICTI) is a medication used to treat patients with Pyruvate Dehydrogenase Deficiency (PDH). It works by helping the body manage certain metabolic processes. The medication is designed to reduce fatigue in patients with this rare metabolic condition. RAVICTI is taken orally and helps control the buildup of harmful substances in the body that can occur in people with PDH.

Pyruvate dehydrogenase deficiency – A rare genetic metabolic disorder that affects how the body processes certain nutrients to produce energy. The condition occurs when an enzyme called pyruvate dehydrogenase complex (PDC) fails to break down pyruvate properly in cells. This leads to a buildup of lactic acid in the body and prevents cells from producing enough energy. People with this condition often experience fatigue, muscle weakness, and poor muscle tone. The symptoms typically begin in infancy or early childhood and can vary in severity among different individuals.

Trial ID:

2024-516410-38-00

Protocol code:

APHP230834

Trial Phase:

Therapeutic exploratory (Phase II)

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Study of glycerol phenylbutyrate (oral liquid) for treatment of fatigue in patients with pyruvate dehydrogenase deficiency

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?