In short
Currently, 3 clinical trials are investigating new treatment approaches for neurodevelopmental disorders. These studies focus on genetic forms of the condition, testing different medications to improve movement abilities, reduce seizures, and address behavioral symptoms in children and young adults.
Clinical trial locations
- Belgium
- France
- Germany
- Italy
- Netherlands
- Poland
- Slovenia
- Spain
Study of levodopa and carbidopa treatment for patients with neurodevelopmental disorder caused by CTNNB1 gene mutation
This study is testing a combination of two medications, levodopa and carbidopa, for patients with a condition called CTNNB1 syndrome. This is a rare genetic disorder caused by mutations in the CTNNB1 gene, which affects brain development and function. People with this condition typically experience developmental delays, intellectual disability, and problems with movement and muscle control.
Who can participate: Patients between 1 and 15 years old with a confirmed CTNNB1 gene variant. Both males and females can participate. Patients must be able to participate in motor skills assessments and complete the Gross Motor Function Measure (GMFM-88), a detailed test that evaluates movement abilities like walking, sitting, and crawling. A legal guardian must provide informed consent for the patient's participation.
Who cannot participate: Patients without a confirmed genetic diagnosis of CTNNB1 mutation, individuals older than 18 years, those who cannot complete the GMFM-88 assessment, those participating in other clinical trials simultaneously, 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, patients taking medications that could interfere with the study treatment, individuals who cannot attend regular study visits, and those whose legal guardian cannot provide consent.
Study focus: The main goal is to determine if the combination of levodopa and carbidopa can improve movement abilities in people with CTNNB1-related disorder. The treatment lasts for 12 months, during which participants take the medications daily. Levodopa works by converting into dopamine in the brain, a chemical that helps control movement. Doctors will monitor how well patients can move and perform various physical activities, track changes in thinking abilities and language development, assess overall quality of life, and carefully watch for any side effects through regular medical check-ups.
This trial is being conducted in France.
Summary
Three clinical trials are currently recruiting patients with specific genetic forms of neurodevelopmental disorders. Each study focuses on a different genetic cause: GRIN-related disorder, CTNNB1 syndrome, and GNAO1-associated disorders. All three trials aim to test treatments that may improve movement abilities, reduce seizures, or address other symptoms affecting children and young adults.
The GRIN-related disorder trial is the most widely available, being conducted across eight European countries including France, Spain, Germany, Belgium, Netherlands, Italy, Slovenia, and Poland. The other two studies are more geographically limited, with the CTNNB1 study taking place only in France and the GNAO1 study only in Germany.
The treatments being tested vary significantly. Radiprodil is a medication specifically designed to modulate brain receptors and is being tested for GRIN-related disorder. Levodopa and carbidopa are established medications already used for movement disorders, now being studied for CTNNB1 syndrome. Zinc acetate represents a different approach, testing whether a mineral supplement might help manage symptoms of GNAO1 disorders.
All three studies require genetic confirmation of the specific disorder and include detailed monitoring of motor skills, quality of life, and safety. The studies require significant caregiver involvement, including maintaining daily logs and attending regular follow-up visits.
