RecruitingNAINTERVENTIONAL

Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder (CTNNB1 Gene)

This research is investigating a medicine called L-dopa for children between 1 and 15 years old who have a rare genetic condition known as CTNNB1 syndrome. This condition is similar to cerebral palsy and can cause delays in development, learning difficulties, and problems with movement, like walking and muscle stiffness. Researchers believe that some of these problems might be due to a lack of a chemical in the brain. L-dopa is a medicine that can increase this chemical. Early observations in a few children with CTNNB1 syndrome have shown promising signs, with improvements in their alertness, language, and movement. This study aims to formally test if L-dopa can help improve these motor and non-motor symptoms for more children with CTNNB1 syndrome.

At a glance

Status

Recruiting

Phase

Sponsor

University Hospital, Montpellier

Enrolment target

Start

08 Apr 2026

Estimated completion

01 May 2027

CTNNB1 L-DOPA

What is this study about?

This study is about a rare genetic condition called CTNNB1 syndrome, which affects how children develop. It's similar in some ways to cerebral palsy, as it can cause delays in learning and movement, and sometimes affect eyesight. Every child with CTNNB1 syndrome is different, but they often experience difficulties with walking, muscle stiffness, and sometimes difficulties with social interactions. These challenges happen because of a change in a specific gene called CTNNB1, which is important for brain development.

Researchers believe that the changes in the CTNNB1 gene might lead to lower levels of an important brain chemical called dopamine. When dopamine levels are too low, it can cause problems with movement and other brain functions. The medicine being tested in this study is called L-dopa. It's commonly used for conditions like Parkinson's disease where dopamine levels are low. The idea is that giving L-dopa to children with CTNNB1 syndrome might help to correct some of these low dopamine levels and improve their symptoms.

This study is important because there isn't a specific cure for CTNNB1 syndrome right now, and treatment often focuses on managing individual symptoms. Previous observations of a few children with CTNNB1 syndrome who tried L-dopa showed some encouraging improvements in their alertness, ability to communicate, and movement. This study aims to properly test if L-dopa can indeed help improve these symptoms for more children with the condition, which could make a real difference to their daily lives.

Key takeaways

The study is for children aged 1-15 with CTNNB1 syndrome.
It tests if L-dopa can improve developmental and movement difficulties.
CTNNB1 syndrome is a rare genetic condition similar to cerebral palsy.
Early results in a few children showed positive signs with L-dopa.
Participation involves strict eligibility criteria.

Who may be eligible?

To be considered for this study, children need to be between 1 and 15 years old and have a confirmed diagnosis of CTNNB1 syndrome caused by a specific genetic change. They also need to experience muscle stiffness or unusual movements, known as dystonia.

There are certain situations where a child would not be able to participate. For example, if they have an allergy to L-dopa, are already taking L-dopa or similar medications, or have certain health conditions like stomach ulcers, a type of glaucoma (an eye condition), or low blood pressure when standing up. Also, if a child is currently taking part in another study or if the parents are unable to give their full consent, they wouldn't be able to join.

It's important that parents are happy to follow specific guidelines, including any contraception requirements mentioned in the detailed study information, if applicable to the child's situation. Pregnant individuals or those planning to become pregnant within 12 months after starting the study cannot take part.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Is your child between 1 and 15 years old?
Has your child been diagnosed with CTNNB1 syndrome?
Does your child experience muscle stiffness or unusual movements (dystonia)?
Does your child have any known allergies to L-dopa or similar medications?
Is your child currently taking L-dopa or similar Parkinson's-type medications?

Answer every question to see your result.

What does participation involve?

The detailed description of what taking part involves is not provided in your summary. Typically, clinical trials involve regular visits to a clinic or hospital for assessments, which might include physical examinations, movement tests, and possibly blood tests. You would be given the L-dopa medication to administer, and there would be follow-up appointments to check on any changes in your child's condition and to monitor for side effects. The total duration of the study would be specified in the full trial information. You would always have the right to withdraw from the study at any time.

Potential risks and benefits

Participating in this study might offer a potential benefit for your child, as L-dopa could improve their movement, alertness, and communication, based on early observations. However, as with any medication, there are potential risks and side effects, which will be fully explained by the study team. These could include stomach upset, dizziness, or changes in blood pressure. You have the right to withdraw your child from the study at any time without giving a reason, and this will not affect their future medical care.

Locations (1)

CHU de Montpellier
Verified postcode
Montpellier, France· Recruiting

Common questions

What is CTNNB1 syndrome?

It's a rare genetic condition that affects children's development, learning, and movement, similar in some ways to cerebral palsy.

What is L-dopa?

L-dopa is a medicine that can help increase a natural chemical in the brain called dopamine, which is important for movement and other brain functions.

Why are you studying L-dopa for CTNNB1 syndrome?

Early observations suggest that L-dopa might help improve some symptoms like movement and alertness in children with this condition, and researchers want to test this formally.

Will my child definitely get better if they take part?

There's no guarantee of improvement. The study is designed to find out if L-dopa is effective. Every child is different, and results may vary.

What if we change our minds about participating?

You can withdraw your child from the study at any time, for any reason, and it won't affect their regular medical care.

How to find out more

Agathe Roubertie, Pr.

a-roubertie@chu-montpellier.fr +33 4.67.33.01.82 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.