Clinical trials: Tuberous Sclerosis Complex
Epilepsy, Tuberous Sclerosis Complex
A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD
The purpose of this study is to measure if the drug called Everolimus effects mTOR signaling (an electrical activity signal in the brain) in patients with Tuberous Sclerosis Complex (TSC) and Focal Cortical Dysplasia (FCD) with…
- Conditions
- Epilepsy, Tuberous Sclerosis Complex, Focal Cortical Dysplasia
- Trial name
- NCT02451696
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- NYU Langone Health
Tuberous Sclerosis Complex, Self-injury
Rapalogues for Autism Phenotype in TSC: A Feasibility Study
The purpose of this study is to assess the feasibility and safety of administering rapalogues, sirolimus or everolimus, in participants with Tuberous Sclerosis Complex (TSC) and self-injury and to measure cognitive and behavioral…
- Conditions
- Tuberous Sclerosis Complex, Self-injury, Autism
- Trial name
- RAPT (NCT01929642)
- Testing
- Sirolimus, Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Tuberous Sclerosis Complex
Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)
The investigators are enrolling 3-12 month old infants with a diagnosis of tuberous sclerosis complex (TSC) for a new study on early markers of autism.
- Trial name
- NCT01780441
- Where
- 5 sites in United States
- Volunteers
- 166 people
- Sponsor
- Boston Children's Hospital
TSC1, TSC2
Everolimus for Cancer With TSC1 or TSC2 Mutation
In this research study, the investigators are evaluating the clinical benefit of everolimus in cancer patients with inactivating TSC1 or TSC2 mutations or activating MTOR mutations.
- Conditions
- TSC1, TSC2, Tuberous Sclerosis Complex, MTOR
- Trial name
- NCT02201212
- Testing
- Everolimus
- Where
- 2 sites in United States
- Volunteers
- 30 people
- Sponsor
- Dana-Farber Cancer Institute
Lymphangioleiomyomatosis, Tuberous Sclerosis Complex
Safety of Simvastatin in LAM and TSC
The purpose of this research study is to see if simvastatin can be taken safely in patients with either LAM or TSC, who are already being treated with everolimus or sirolimus.
- Trial name
- SOS (NCT02061397)
- Testing
- Simvastatin, Sirolimus Oral Product, Everolimus Oral Product
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- University of Pennsylvania
Tuberous Sclerosis Complex, Aspirin
Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex
There had been much evidence in aspirin controlling tumorous conditions conducted by basic researches, especially through mammilian target of rapamycin (mTOR) pathway.
- Conditions
- Tuberous Sclerosis Complex, Aspirin, Epilepsy, Cognitive Decline
- Trial name
- NCT03356769
- Testing
- Aspirin, AED
- Where
- China
- Volunteers
- 98 people
- Sponsor
- Peking Union Medical College Hospital
Tuberous Sclerosis Complex
Dermatologic Patterns of Tuberous Sclerosis Patients and Somatic Mutation Relationship
Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction…
- Trial name
- NCT04112537
- Where
- France
- Volunteers
- 90 people
- Sponsor
- University Hospital, Montpellier
Tuberous Sclerosis Complex
Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC
To determine whether EEGs during infancy is a reliable biomarker to identify TSC patients that will develop infantile spasms/epilepsy in the near future and thus are appropriate candidates for an antiepileptogenic drug trial.
- Trial name
- NCT01767779
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- University of Alabama at Birmingham
Tuberous Sclerosis Complex-associated Refractory Seizures
A Placebo-controlled Study of Efficacy & Safety of 2 Trough-ranges of Everolimus as Adjunctive Therapy in Patients With Tuberous Sclerosis Complex (TSC) & Refractory Partial-onset Seizures
This study evaluated the efficacy and safety of two trough-ranges of everolimus given as adjunctive therapy in patients with tuberous sclerosis complex (TSC) who had refractory partial-onset seizures.
- Trial name
- EXIST-3 (NCT01713946)
- Testing
- RAD001, Antiepileptic drug (1 to 3 only), open label RAD001 (only used for post-extension phase)
- Where
- 104 sites in United States, Argentina and 23 more
- Volunteers
- 366 people
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis Complex
Trial of RAD001 and Neurocognition in Tuberous Sclerosis Complex (TSC)
Tuberous Sclerosis Complex (TSC) is a multi-system disease, usually presenting with seizures, mental retardation and autism, and exhibiting a high variability in clinical findings both among and within families.
- Trial name
- TSC (NCT01289912)
- Testing
- RAD001
- Where
- 2 sites in United States
- Volunteers
- 52 people
- Sponsor
- Mustafa Sahin
Complex Partial Seizures
Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients
This is an open-label, phase 4 study to examine the safety and efficacy of vigabatrin (Sabril) in Tuberous Sclerosis patients, a subset of the larger refractory complex partial epilepsy population for which the drug is approved.
- Trial name
- STARS (NCT01266291)
- Testing
- vigabatrin
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Pennsylvania
Tuberous Sclerosis Complex
Tuberous Sclerosis Complex Natural History Study: Renal Manifestations
Eighty percent of patients with tuberous sclerosis complex (TSC) have renal angiomyolipomata. These lesions grow and can lead to significant morbidity by hemorrhage or renal failure.
- Trial name
- NCT00598455
- Where
- United States
- Volunteers
- 450 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Epilepsy, Tuberous Sclerosis Complex
Everolimus (RAD001) Therapy for Epilepsy in Patients With Tuberous Sclerosis Complex (TSC)
The goal of this study is to learn if the study drug RAD001 can reduced the number of epileptic seizures, and can be taken safety by people who have epilepsy associated with Tuberous Sclerosis Complex.
- Trial name
- NCT01070316
- Testing
- Everolimus
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals
Neurofibromatosis Type I, Tuberous Sclerosis Complex
The Cognitive Variability in NF1 and TSC Monozygotic Twins
Both Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) are highly heterogeneous diseases. Cognitive features seem to vary widely even between family members carrying the same mutation.
- Trial name
- COVANTT (NCT02436746)
- Where
- Netherlands
- Volunteers
- 116 people
- Sponsor
- Erasmus Medical Center
Tuberous Sclerosis Complex, TSC Related Cognitive Disability
Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a genetic disease that leads to mental retardation in over 50% of patients, and to learning problems, behavioral problems, autism and epilepsy in up to 90% of patients.
- Conditions
- Tuberous Sclerosis Complex, TSC Related Cognitive Disability, TSC Related Autism, TSC Related Learning Problems
- Trial name
- RAPIT (NCT01730209)
- Testing
- Everolimus
- Where
- Netherlands
- Volunteers
- 60 people
- Sponsor
- Erasmus Medical Center
TSC, Tuberous Sclerosis Complex
Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex
The primary objective of clinical part of EPISTOP project is to identify the clinical and molecular biomarkers of epileptogenesis in a prospective clinical study of patients with TSC.
- Conditions
- TSC, Tuberous Sclerosis Complex, Epilepsy
- Trial name
- EPISTOP (NCT02098759)
- Testing
- epilepsy early diagnosis protocol
- Where
- 9 sites in Austria, Belgium and 6 more
- Volunteers
- 100 people
- Sponsor
- Sergiusz Jozwiak