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Study of levodopa and carbidopa treatment for patients with neurodevelopmental disorder caused by CTNNB1 gene mutation

Verified siteInvestigationalNo placebo
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What is this trial about?

A plain-language summary of the goals, design and what participants do

This study focuses on patients with a neurodevelopmental disorder caused by changes in the CTNNB1 gene. This is a rare condition that affects brain development and movement abilities. The study will test a treatment combining two medications: levodopa and carbidopa, which are taken as oral capsules.

The purpose of this research is to determine if this treatment can improve movement abilities in people with CTNNB1-related neurodevelopmental disorder. The treatment involves taking specific doses of levodopa and carbidopa that are calculated based on each person's weight. The study will last for 12 months, during which participants will take these medications daily.

Throughout the study, doctors will monitor how well patients can move and perform various physical activities. They will also track changes in thinking abilities, language development, and overall quality of life. The safety of the treatment will be carefully watched through regular medical check-ups and by keeping track of any side effects that may occur.

The research process

The trial runs in 5 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Initial assessment

    Your first visit will include a complete evaluation of your motor skills using the GMFM-88 assessment tool.

    Additional evaluations will include language, development, and cognitive assessments using specialized tests.

    A quality of life assessment will be conducted using specific questionnaires.

  2. Step 2

    Treatment initiation

    You will begin taking three medications in capsule form:

    - Carbidopa 0.75mg per kilogram of body weight daily

    - Carbidopa 0.3mg per kilogram of body weight daily

    - Levodopa 3mg per kilogram of body weight daily

    All medications are to be taken by mouth

  3. Step 3

    6-month evaluation

    After 6 months of treatment, you will undergo:

    A repeat motor skills assessment using the GMFM-88 tool

    A quality of life assessment

    Clinical examination to check for any side effects

  4. Step 4

    12-month evaluation

    At the one-year mark, you will have:

    Final motor skills assessment using GMFM-88

    Complete language and cognitive development evaluation

    Final quality of life assessment

    Overall safety and tolerance assessment

  5. Step 5

    Ongoing monitoring

    Throughout the study period, you will:

    Maintain a patient logbook to record any changes or concerns

    Receive regular clinical, neurological, and joint examinations

    Have any side effects monitored and documented

Who can join the trial?

7 criteria

  • Patient must be between 1 and 15 years old
  • Patient must have a confirmed CTNNB1 gene variant (a genetic change that affects normal development)
  • Both male and female patients can participate
  • Patient must be able to participate in motor skills assessments (tests that measure movement abilities)
  • Patient must have a neurodevelopmental disorder (a condition that affects brain development and function)
  • Legal guardian must be willing to provide informed consent for the patient's participation
  • Patient must be able to complete the Gross Motor Function Measure (GMFM-88) assessment (a detailed test that evaluates movement abilities like walking, sitting, and crawling)

Who cannot join the trial?

12 criteria

  • Patients who do not have a confirmed genetic diagnosis of CTNNB1 mutation
  • Individuals older than 18 years of age
  • Patients who cannot complete the Gross Motor Function Measure (GMFM-88) assessment (a test that measures movement abilities)
  • Those who are participating in other clinical trials at the same time
  • Patients with severe allergic reactions to medications in the past
  • Individuals with significant heart, liver, or kidney problems
  • Pregnant or breastfeeding women
  • Patients who have had major surgery in the past 3 months
  • Those with uncontrolled seizures (sudden, uncontrolled electrical disturbances in the brain)
  • Patients taking medications that could interfere with the study treatment
  • Individuals who cannot attend regular study visits and follow-ups
  • Those who cannot provide informed consent or whose legal guardian cannot provide consent
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Investigated drugs

L-dopa (also known as Levodopa) is a medication that helps improve movement and coordination. It works by converting into dopamine in the brain, a chemical that helps control movement. This medication is commonly used to treat various movement disorders. In this trial, it is being studied to help patients with movement difficulties caused by changes in the CTNNB1 gene. The medication aims to improve motor skills and physical function in these patients.

What is already known about the treatment

L-dopa – A medication administered orally that serves as a precursor to dopamine, primarily used in treating movement disorders and certain neurological conditions. L-dopa crosses the blood-brain barrier and converts to dopamine in the brain, helping to improve motor function in patients with neurodevelopmental disorders, particularly those associated with CTNNB1 gene mutations. This medication belongs to the class of aromatic amino acid decarboxylase drugs and is often prescribed to enhance mobility and motor skills in patients with movement impairments. The medication's effectiveness is typically measured through standardized assessments of gross motor function, making it a valuable therapeutic option for rare neurological conditions.

Investigated diseases

  • CTNNB1 Syndrome

    A rare genetic disorder caused by mutations in the CTNNB1 gene, which affects brain development and function. This condition typically causes developmental delays, intellectual disability, and problems with movement and muscle control. People with this syndrome often experience difficulties with walking, balance, and coordination. The condition also frequently involves speech delays and learning difficulties.

  • Neurodevelopmental Disorders

    A group of conditions that affect brain function and development during early childhood and adolescence. These disorders impact various areas of development including movement, learning, language, and behavior. The conditions in this group typically become apparent during a child's developmental period and can affect daily functioning. Children with these disorders may experience challenges with physical coordination, communication, attention, and social interactions.

Trial detailsLast updated 7 Oct 2026
Age0-17PhasePhase IITrial ID2024-514852-34-01Protocol codeRECHMPL23_0426Estimated enrolment7 patientsSponsorCentre Hospitalier Universitaire De Montpellier

sourced from the EU Clinical Trials Register and site verification

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