In short
There are currently 2 ongoing clinical trials focused on developing treatments for cortical dysplasia and related conditions. These trials are investigating medications that may help reduce seizures in patients whose epilepsy does not respond well to standard treatments. The studies are being conducted across multiple European countries and involve both children and adolescents.
Clinical trial locations
- Belgium
- Italy
- Netherlands
- Poland
- Spain
Study on Radiprodil for Seizures and Behavioral Symptoms in Patients with Tuberous Sclerosis Complex or Focal Cortical Dysplasia Type II
This trial is investigating Radiprodil, a medication given as an oral liquid suspension, for patients with Focal Cortical Dysplasia Type II or Tuberous Sclerosis Complex. The study aims to understand how Radiprodil can help manage seizures and behavioral symptoms associated with these conditions.
Main focus: The study is designed to assess the safety and tolerability of Radiprodil, as well as how the body processes the medication. Researchers will monitor seizure frequency and behavioral symptoms over time using electronic diaries to record seizure activity. Regular check-ups will track any side effects, changes in vital signs, and other health indicators. The medication dosage will be adjusted individually for each participant to find the most suitable amount.
Who can participate:
- Children and adolescents between 6 months and 18 years of age
- Patients with a confirmed diagnosis of Focal Cortical Dysplasia Type II (confirmed by symptoms and MRI scan) or Tuberous Sclerosis Complex (confirmed by clinical or genetic criteria)
- Patients who have tried at least 2 different anti-seizure medications without success
- Patients experiencing at least 8 countable motor seizures in a 4-week period, with at least 1 seizure in 3 out of 4 weeks
- Patients on stable epilepsy or behavioral treatments for at least 28 days before the study
- Participants or caregivers must be willing to complete daily electronic diaries
- An MRI scan must have been performed within 12 months before starting the study drug
- If of childbearing potential, participants must use acceptable birth control methods
Who cannot participate:
- Patients with medical conditions other than Focal Cortical Dysplasia Type II or Tuberous Sclerosis Complex
- Patients outside the specified age range
- Patients who are part of a vulnerable population
Study medication: Radiprodil is being studied for its potential to reduce seizure activity in the brain. It works by modulating specific receptors in the brain and is classified as an anticonvulsant. The medication is not yet widely used in medical practice and is currently under investigation.
Study on the Safety and Effectiveness of Sirolimus for Treating Drug-Resistant Epilepsy in Children with Rare Brain Disorders Linked to mTOR Pathway Activation
This trial is studying Rapamune (also known as sirolimus or rapamycin), which is given as an oral solution. The study focuses on children who have epilepsy that does not respond to standard treatments and is linked to rare brain conditions called mTORopathies, including focal cortical dysplasia and LEATs.
Main focus: The study aims to evaluate the safety and effectiveness of Rapamune in reducing seizures in children with these conditions. Researchers will monitor the number of seizures experienced by participants and assess whether the medication can reduce seizures by at least 50%. The study will also evaluate any side effects and the overall impact on quality of life for the children and their families. The trial is expected to conclude by January 31, 2027.
Who can participate:
- Children between 4 months and 18 years old
- Patients with a diagnosis of drug-resistant epilepsy with focal onset
- Patients with confirmed or suspected mTORopathy on MRI scan (such as focal cortical dysplasia, hemimegalencephaly, or LEATs)
- Patients who have experienced at least 8 seizures in the 4 weeks before joining the study
- Legal caregivers must provide informed consent; patients aged 13 or older must also consent
- If of reproductive age, a negative pregnancy test within 2 weeks before starting the study is required
- Sexually active participants must agree to use effective contraception or abstain from sexual activity during the study and for 3 months after treatment ends
Who cannot participate:
- Individuals who do not have epilepsy or related conditions like mTORopathies, focal cortical dysplasia, or LEATs
- People outside the age range of 2 to 18 years old
- Individuals who are not part of a vulnerable population
Study medication: Rapamycin works by inhibiting the mTOR pathway, which is involved in cell growth and metabolism. It is classified as an mTOR inhibitor and is being tested for its potential to manage epilepsy that does not respond to other treatments in children with rare central nervous system disorders.
Summary
Both ongoing clinical trials are focused on children and adolescents with difficult-to-treat epilepsy associated with specific brain abnormalities. The first trial is testing Radiprodil across multiple European countries including Spain, Poland, Italy, Belgium, and the Netherlands, making it a multi-national study. The second trial is being conducted in Poland and focuses specifically on children with mTORopathies.
Both studies require participants to have tried multiple seizure medications without success, highlighting the focus on drug-resistant epilepsy. The trials are investigating different types of medications: Radiprodil, which modulates brain receptors, and Rapamune, which targets the mTOR pathway. Both medications aim to achieve at least a 50% reduction in seizure frequency while monitoring safety and quality of life improvements.
Poland stands out as the only country participating in both trials, potentially offering more options for patients in that location. The studies emphasize careful monitoring through electronic diaries, regular assessments, and comprehensive safety evaluations to ensure participant wellbeing throughout the treatment period.
