Ongoing Clinical Trials for Tuberous Sclerosis Complex
There are currently 9 clinical trials ongoing for Tuberous Sclerosis Complex, a genetic disorder that causes non-cancerous tumors to form in various organs and often leads to seizures and other neurological symptoms. These studies are testing various medications including mTOR inhibitors, cannabinoid-based therapies, and other novel treatments across several European countries.
Clinical trial locations
- Austria
- Belgium
- Germany
- Italy
- Study on Radiprodil for Seizures and Behavioral Symptoms in Patients with Tuberous Sclerosis Complex or Focal Cortical Dysplasia Type II
- Study on Basimglurant for Children, Adolescents, and Young Adults with Tuberous Sclerosis Complex-Related Seizures
- Study on Cannabidiol Oral Solution for Infants with Tuberous Sclerosis, Dravet Syndrome, or Lennox-Gastaut Syndrome Experiencing Uncontrolled Seizures
- Netherlands
- Poland
- Study on Radiprodil for Seizures and Behavioral Symptoms in Patients with Tuberous Sclerosis Complex or Focal Cortical Dysplasia Type II
- Study on the Effectiveness and Safety of Sirolimus for Patients with Drug-Resistant Epilepsy Linked to Tuberous Sclerosis Complex
- Study on the Safety and Effectiveness of Sirolimus and Vigabatrin for Preventing Symptoms in Infants with Tuberous Sclerosis Complex
- Long-Term Safety Study of Everolimus for Patients with Tuberous Sclerosis Complex and Refractory Seizures
- Study on Basimglurant for Children, Adolescents, and Young Adults with Tuberous Sclerosis Complex-Related Seizures
- Study on Cannabidiol as Add-on Therapy for Seizures in Patients Aged 1-65 with Tuberous Sclerosis Complex
- Spain
- Study on Radiprodil for Seizures and Behavioral Symptoms in Patients with Tuberous Sclerosis Complex or Focal Cortical Dysplasia Type II
- Study on the Effects of Full Spectrum Cannabis Extract (Dronabinol, Cannabidiol) for Patients with Hard-to-Treat Epilepsy in Tuberous Sclerosis Complex
- Study on Basimglurant for Children, Adolescents, and Young Adults with Tuberous Sclerosis Complex-Related Seizures
- Study on Cannabidiol Oral Solution for Infants with Tuberous Sclerosis, Dravet Syndrome, or Lennox-Gastaut Syndrome Experiencing Uncontrolled Seizures
Study on Radiprodil for Seizures and Behavioral Symptoms in Patients with Tuberous Sclerosis Complex or Focal Cortical Dysplasia Type II
This study is testing a medication called Radiprodil in patients with Tuberous Sclerosis Complex or Focal Cortical Dysplasia Type II. The main focus is to assess whether Radiprodil can help manage seizures and behavioral symptoms in these conditions.
Who can participate: Children and adolescents aged 6 months to 18 years who have tried at least two anti-seizure medications without success can join. Participants must have a confirmed diagnosis of either condition and experience at least 8 countable motor seizures within a 4-week period. All current treatments for epilepsy or behavior must have been stable for at least 28 days before the study begins. Participants or their caregivers must be willing to complete a daily electronic diary to track seizures.
Who cannot participate: Patients with medical conditions other than the two specified conditions, those outside the required age range, and members of vulnerable populations are excluded from participation.
What the study involves: Radiprodil is given as an oral liquid medicine. The study monitors how safe and well-tolerated the medication is when given in individually adjusted doses. Researchers will track seizure frequency, behavioral symptoms, and any side effects throughout the study. Regular check-ups include physical exams, blood tests, and heart monitoring.
The medication: Radiprodil is designed to help reduce seizures and improve behavior in patients with these specific brain conditions. It works by modulating certain receptors in the brain to help reduce seizure activity.
Study on the Effectiveness and Safety of Sirolimus for Patients with Drug-Resistant Epilepsy Linked to Tuberous Sclerosis Complex
This trial is investigating whether sirolimus (also known as rapamycin) can help manage drug-resistant epilepsy in individuals with Tuberous Sclerosis Complex. The study compares sirolimus to a placebo to determine its effectiveness in reducing seizures.
Who can participate: Participants must have a confirmed diagnosis of Tuberous Sclerosis Complex and drug-resistant epilepsy, meaning they experience at least 8 seizures in 4 weeks despite taking medication. Boys and girls aged 3 months to 55 years old can participate if they weigh at least 6 kilograms. Parents or caregivers must be willing and able to give consent and follow all study requirements.
Who cannot participate: Patients without Tuberous Sclerosis Complex or without associated epilepsy or organ tumors cannot participate. Those outside the specified age range, pregnant or breastfeeding individuals, and those with serious health conditions that might interfere with the study are also excluded.
What the study involves: Participants are randomly assigned to receive either rapamycin oral solution or a placebo for 12 weeks. Throughout the study, researchers monitor the number of seizures each week, aiming for at least a 50% reduction in seizures during the final month compared to the screening phase. The study also tracks any adverse events and their severity.
The medication: Rapamycin works by inhibiting a protein called mTOR, which plays a role in cell growth and proliferation. This mechanism may help reduce seizure frequency in patients with Tuberous Sclerosis Complex.
Study on the Effects of Full Spectrum Cannabis Extract (Dronabinol, Cannabidiol) for Patients with Hard-to-Treat Epilepsy in Tuberous Sclerosis Complex
This trial explores the use of a full-spectrum cannabis extract containing dronabinol and cannabidiol (code name YCJ-01) for patients with refractory epilepsy associated with Tuberous Sclerosis Complex. The goal is to evaluate whether this treatment can safely and effectively reduce seizure frequency.
Who can participate: Patients of any sex between 2 and 65 years old with a confirmed diagnosis of Tuberous Sclerosis Complex and refractory epilepsy can join. Participants must experience at least 4 epileptic seizures within 4 weeks before starting treatment. Current anti-epileptic drugs and other interventions must have been stable for at least 4 weeks. Women of child-bearing age must agree to use contraceptive measures during the study.
Who cannot participate: Patients without refractory epilepsy related to Tuberous Sclerosis Complex, those outside the specified age range, or those unable to comply with study procedures are excluded.
What the study involves: Participants receive the YCJ-01 treatment or a placebo as an oral oil over a 52-week period. Regular monitoring assesses changes in seizure frequency, safety, and any adverse effects. Caregivers maintain a seizure diary to help researchers evaluate treatment effectiveness.
The medication: YCJ-01 is believed to work by interacting with the endocannabinoid system, which plays a role in regulating neurological functions. The study aims to determine if this cannabinoid-based therapy can significantly decrease seizure frequency.
Study on the Effects of Sirolimus and Drug Combination for Children Under 4 Months with Tuberous Sclerosis Complex
This study focuses on very young children under 4 months of age with Tuberous Sclerosis Complex. The trial evaluates the long-term neuropsychological outcomes of treatment with sirolimus, an mTOR inhibitor, compared to standard care.
Who can participate: Infants must be younger than 4 months old with a definite diagnosis of Tuberous Sclerosis Complex according to 2021 criteria. If born prematurely, their corrected age must be at least 39 weeks. Legal guardians must provide signed informed consent before any study procedures begin.
Who cannot participate: Patients without Tuberous Sclerosis Complex or those outside the specified age range are excluded.
What the study involves: Children receive either sirolimus (Rapamune) as an oral solution or a placebo in addition to standard care. The study monitors development over 24 months using the Bayley Scales of Infant and Toddler Development. Researchers assess cognitive abilities, behavior, signs of autism spectrum disorder, seizure frequency, and tumor size in the brain and heart.
The medication: Sirolimus works by inhibiting the mTOR pathway, which helps reduce the size and number of tumors associated with Tuberous Sclerosis Complex. Early treatment may lead to better cognitive development in young children.
Study on the Safety and Effectiveness of Sirolimus and Vigabatrin for Preventing Symptoms in Infants with Tuberous Sclerosis Complex
This trial compares two medications, sirolimus (Rapamune) and vigabatrin (Sabril), to see how well they can prevent symptoms in infants with Tuberous Sclerosis Complex. The study is designed to be double-blind, meaning neither participants nor researchers know who receives which treatment.
Who can participate: Boys and girls aged up to 16 weeks old (between 41 to 56 weeks from expected birth date) can join. Infants must have a definite diagnosis of Tuberous Sclerosis Complex and at least one area of cortical dysplasia found on a brain MRI. Parents or caregivers must agree to follow all study rules and requirements.
Who cannot participate: Patients without a diagnosis of Tuberous Sclerosis Complex, without associated epilepsy or tumors, those not in the infant age range, or those unable to take the study medication safely are excluded. Pregnant or breastfeeding individuals and those currently in another clinical trial cannot participate.
What the study involves: Infants are randomly assigned to receive either vigabatrin oral solution (500 mg) or rapamycin oral solution (1 mg/mL). The study lasts up to two years, monitoring physical development, seizure occurrence, tumor volume, developmental quotient, and risk of autism. Regular follow-up visits track the infant’s response to treatment.
The medications: Vigabatrin works by inhibiting an enzyme that increases levels of the neurotransmitter GABA in the brain, helping reduce seizure activity. Rapamycin inhibits the mTOR protein, which controls cell growth, thereby managing abnormal cell growth and seizures.
Long-Term Safety Study of Everolimus for Patients with Tuberous Sclerosis Complex and Refractory Seizures
This is a long-term safety study for patients who have already participated in the EXIST-3 study. It gathers information on the extended safety of everolimus in managing refractory seizures in patients with Tuberous Sclerosis Complex.
Who can participate: Patients must currently be enrolled in the EXIST-3 study and receiving everolimus. They must be benefiting from the treatment as determined by their doctor and have demonstrated compliance with the previous study requirements. Written informed consent or adolescent assent is required before enrolling.
Who cannot participate: Patients without refractory seizures associated with Tuberous Sclerosis Complex, those outside the specified age range, or those not part of a vulnerable population are excluded.
What the study involves: Participants continue taking everolimus as dispersible tablets, with dosage determined by their healthcare provider. Regular visits monitor safety, frequency and severity of adverse events, and clinical benefit. The study aims to provide ongoing assessment of long-term safety until August 2027.
The medication: Everolimus is an mTOR inhibitor that works by targeting specific pathways involved in cell growth and immune function, helping reduce seizure frequency and severity in patients with Tuberous Sclerosis Complex.
Study on Basimglurant for Children, Adolescents, and Young Adults with Tuberous Sclerosis Complex-Related Seizures
This study evaluates basimglurant (code name NOE-101) as an additional treatment alongside current seizure medications for managing seizures in children, adolescents, and young adults with Tuberous Sclerosis Complex.
Who can participate: Participants must be aged 5 to 30 years with a documented history of Tuberous Sclerosis Complex and refractory seizure history. They must be currently receiving one or more anti-epileptic drugs that have been stable for 30 days before study entry. Participants or caregivers must be willing to complete assessments and use contraception if applicable.
Who cannot participate: Patients not diagnosed with Tuberous Sclerosis Complex, not receiving anticonvulsive therapy, unable to take medication as directed, pregnant or breastfeeding, with recent participation in another trial, history of substance abuse, known allergy to the medication, or unable to comply with procedures are excluded.
What the study involves: The study consists of a 30-week period where participants are randomly assigned to receive either basimglurant capsules or placebo, followed by a 52-week phase where all receive basimglurant. Researchers monitor seizure frequency, daily activities, caregiver impressions, and safety throughout the study.
The medication: Basimglurant is a negative allosteric modulator of the metabotropic glutamate receptor 5 (mGluR5), which modulates certain brain receptors to help reduce seizure frequency.
Study on Cannabidiol as Add-on Therapy for Seizures in Patients Aged 1-65 with Tuberous Sclerosis Complex
This trial explores how adding Epidyolex (containing cannabidiol) to current treatment affects behavior and seizure activity in people with Tuberous Sclerosis Complex who experience seizures.
Who can participate: Participants must be aged 1 to 65 years (ages vary slightly by region) with a confirmed diagnosis of Tuberous Sclerosis Complex and a history of seizures. They must exhibit behaviors like aggression, impulsivity, or mood swings with a score of 6 or higher at study start. Participants must have a dedicated caregiver and be willing to follow study requirements. Female participants must use effective birth control during the study.
Who cannot participate: Individuals without a diagnosis of Tuberous Sclerosis Complex, those not experiencing related seizures, children under 3 and adults over 65, pregnant or breastfeeding individuals, those currently in another trial, and those with significant medical conditions that could interfere are excluded.
What the study involves: Participants take Epidyolex oral solution as add-on therapy for up to 56 weeks. Regular assessments monitor behavior, seizure activity, quality of life, family functioning, and sleep patterns. The study focuses on improvements in the most challenging behaviors identified by caregivers.
The medication: Epidyolex contains cannabidiol, which interacts with the endocannabinoid system in the brain. It is used to reduce seizure frequency and improve behavioral outcomes in patients with Tuberous Sclerosis Complex.
Study on Cannabidiol Oral Solution for Infants with Tuberous Sclerosis, Dravet Syndrome, or Lennox-Gastaut Syndrome Experiencing Uncontrolled Seizures
This study evaluates the safety and effectiveness of cannabidiol oral solution (GWP42003-P) as an additional treatment for young children with Tuberous Sclerosis Complex, Dravet Syndrome, or Lennox-Gastaut Syndrome who have seizures not well controlled by current treatments.
Who can participate: Children with Tuberous Sclerosis Complex should be between 1 month and less than 2 years old, while those with Dravet or Lennox-Gastaut Syndrome should be between 1 year and less than 2 years old. Participants must have inadequately controlled seizures and be taking at least one anti-seizure medication. Caregivers must complete at least 75% of seizure diary entries during the 28 days before study start. A suitable video electroencephalogram (VEEG) must be available or performed.
Who cannot participate: Patients with severe allergic reactions to the medication, pregnant or breastfeeding individuals, those with significant liver or kidney disease, recent participants in other trials, those with substance abuse history, and those unable to comply with study procedures are excluded.
What the study involves: Participants receive Epidyolex 100 mg/ml oral solution for 52 weeks in addition to their current seizure medications. The study is open-label, meaning all participants receive the active treatment. Regular monitoring includes assessments of seizure frequency, health evaluations, blood tests to measure medication levels, and developmental assessments.
The medication: Cannabidiol works by interacting with the endocannabinoid system in the brain, which may help reduce seizure frequency in young children with these challenging epilepsy conditions.
Summary
The nine ongoing clinical trials for Tuberous Sclerosis Complex reflect a diverse approach to managing this complex genetic disorder. Poland emerges as a significant hub for research, hosting six of the nine trials, followed by Spain and Italy with four trials each. This concentration suggests strong research infrastructure and expertise in these countries.
The trials focus primarily on managing seizures, the most challenging symptom of Tuberous Sclerosis Complex. Several different therapeutic approaches are being investigated, including mTOR inhibitors (sirolimus, everolimus), cannabinoid-based therapies (cannabidiol in various formulations), and novel compounds like radiprodil and basimglurant. The emphasis on cannabidiol across multiple studies indicates growing interest in cannabinoid-based treatments for seizure management.
Age ranges vary significantly across studies, from very young infants (as young as 1 month) to adults up to 65 years. Several trials specifically target the youngest patients, reflecting the importance of early intervention in this genetic disorder. The inclusion of long-term safety studies, such as the everolimus follow-up trial, demonstrates commitment to understanding the extended effects of these treatments.
Most trials require participants to have tried multiple treatments without success, emphasizing the focus on drug-resistant epilepsy. The studies consistently monitor not only seizure frequency but also behavioral symptoms, quality of life, and developmental outcomes, acknowledging the multifaceted impact of Tuberous Sclerosis Complex on patients and families.
