Ongoing Clinical Trials for Neurodevelopmental Disorders
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 on the Safety and Effects of Radiprodil for Children with GRIN-related Disorder
This trial is testing Radiprodil, an oral medication being studied for children with GRIN-related disorder, a genetic condition caused by mutations in the GRIN genes. These genes are responsible for creating NMDA receptors in the brain, which are important for learning and memory. When these genes don’t work properly, children can experience seizures, developmental delays, and behavioral problems.
Who can participate: Children aged 6 months to 12 years with confirmed changes in the GRIN gene affecting the NMDA receptor. For one group of participants, children must have at least one noticeable motor seizure per week and at least four motor seizures during a 4-week observation period. Motor seizures involve physical movements. For another group, children must have significant behavioral or movement issues. All children must have tried at least two different anti-seizure medications without successfully controlling their seizures. Current treatments must remain stable throughout the study, and caregivers must be willing to fill out a daily electronic diary about the child’s condition.
Who cannot participate: Children without a GRIN-related disorder, those outside the specified age range, those unable to follow study procedures or take the medication as required, those with other medical conditions that might interfere with the study, those taking medications that might interact negatively, those who have had recent surgery or are planning surgery during the study, pregnant or breastfeeding patients, those with a history of drug or alcohol abuse, those who participated in another trial recently, and those with allergies to the study medication or its ingredients.
Study focus: The trial aims to determine if Radiprodil is safe for long-term use in children with GRIN-related disorder and to find the right dose that doesn’t cause too many side effects. Researchers will monitor how the body processes the medication, how it affects seizure frequency, and whether it improves behavioral symptoms. The study is conducted in two parts: the first part tests different doses over eight weeks to find a safe and well-tolerated dose, while the second part continues to monitor children for long-term effects.
This trial is being conducted across multiple European countries, including France, Spain, Germany, Belgium, Netherlands, Italy, Slovenia, and Poland.
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.
Study on the Safety and Feasibility of Oral Zinc Acetate Dihydrate for Patients with GNAO1-Related Disorders
This clinical trial is studying Wilzin (zinc acetate dihydrate) for people with GNAO1 associated disorders. These are rare genetic conditions caused by changes in the GNAO1 gene, which can lead to symptoms such as movement problems, muscle weakness, seizures, and developmental delays. The disorders can cause various movement abnormalities including dystonia (involuntary muscle contractions) and dyskinesia (involuntary movements).
Who can participate: Patients aged 6 months to 30 years with a GNAO1 associated neurological disorder, confirmed by either a proven or likely harmful change in the GNAO1 gene, or a change that is not clearly understood but with symptoms that match GNAO1 issues. Patients must have at least one common symptom such as movement disorder, low muscle tone, epilepsy, or global developmental delay. They must have a Gross-Motor-Function measure-66 (GMFM-66) score of 75 or less, which measures how well a person can perform certain physical activities. Parents or legal guardians must provide written informed consent. Patients must have been stable on certain treatments (anti-seizure medication, baclofen, or deep brain stimulation) for at least 3 months before joining the trial.
Who cannot participate: Patients who do not have GNAO1 associated disorders or who are not within the specified age range.
Study focus: The trial aims to assess how feasible and safe it is to use oral zinc as a treatment for individuals with GNAO1 associated disorders. Zinc is a mineral important for many bodily functions, including the immune system and cell growth. Throughout the study, researchers will monitor how often the zinc is taken correctly and check for any side effects. The study will also look at changes in motor skills, quality of life, and other symptoms related to GNAO1 disorders. Caregivers will keep a daily log of the participant’s behavior, sleep patterns, and any seizures. Blood tests will measure zinc levels and ensure there are no deficiencies in other important substances like iron and copper. The study will also analyze stool samples to see if there are any changes in the gut related to the disorders.
This trial is being conducted in Germany.
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.
