Clinical trials: Cortical Development Malformation
Epilepsy, Dravet Syndrome
Turmeric as Treatment in Epilepsy
This is a single center open-label pilot clinical trial of patients 1-70 years of age with greater than 6 seizures per month diagnosed with Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis, or focal seizures.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis
- Trial name
- NCT03254680
- Testing
- Turmeric
- Where
- United States
- Sponsor
- NYU Langone Health
Tuberous Sclerosis, Lymphangioleiomyomatosis
TSC Biosample Repository and Natural History Database
The TSC Biosample Repository collects and stores samples of blood, DNA, and tissues that scientists can request to use in their research. The samples we collect are all linked to clinical data in the TSC Natural History Database.
- Trial name
- NCT05676099
- Testing
- Phlebotomy, Buccal (cheek) swab, Genetic Testing
- Where
- 26 sites in United States, Canada
- Volunteers
- 5,000 people
- Sponsor
- National Tuberous Sclerosis Association
Fertility Preservation, Ovarian Tissue Cryopreservation
Preservation of Ovarian Cortex Tissue in Girls With Turner Syndrome
Rationale: Infertility due is a major concern for girls with Turner syndrome (TS) and their parents. Physicians are often asked about possible options to preserve their fertility.
- Conditions
- Fertility Preservation, Ovarian Tissue Cryopreservation, Turner Syndrome, Live Birth
- Trial name
- NCT03381300
- Testing
- Ovarian tissue cryopreservation
- Where
- Netherlands
- Volunteers
- 106 people
- Sponsor
- Radboud University Medical Center
Tuberous Sclerosis Complex
Predicting Epileptogenic Tubers in Patients with Tuberous Sclerosis Complex
Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging because ETs lack distinct pathological or genetic markers that differentiate them from other…
- Trial name
- NCT06789419
- Volunteers
- 112 people
- Sponsor
- Beijing Children's Hospital
Focal Cortical Dysplasia, Epilepsy
Determining the Extent of Diffusion Tensor Abnormalities in Focal Cortical Dysplasia
Focal cortical dysplasia (FCD) is a common finding in epilepsy surgery in pediatric patients. Children with intractable epilepsy would have extensive tests to identify the cause of epilepsy; this includes MR brain, video EEG and…
- Trial name
- FCP (NCT00687024)
- Testing
- Magnetoencephalography, MR imaging, Diffusion Tensor Imaging
- Where
- Canada
- Volunteers
- 12 people
- Sponsor
- The Hospital for Sick Children
Cerebra-retinal Angiopathy
COL4A1 Gene Related Cerebra-retinal Angiopathy
This prospective multicenter cohort study aims to define the clinical, radiological and mutational spectrum of the disease related to COL4A1 gene.
- Trial name
- COL4A1 (NCT01097564)
- Testing
- COL4A1 genetic testing
- Where
- France
- Volunteers
- 132 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Tuberous Sclerosis Complex
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment
The purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be…
- Trial name
- NCT02962414
- Testing
- everolimus
- Where
- 67 sites in United States, Australia and 16 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
- Trial name
- NCT06160310
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- David M. Ritter
Autism Spectrum Disorder, Fragile X Syndrome
Speech-in-noise Perception in Autism and Fragile X
The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact.
- Trial name
- NCT06088589
- Testing
- Mismatch negativity
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
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
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
Cortical Development Malformation, Multiparametric Magnetic Resonnance Imaging
Normative Brain Volume Profiles From Multicenter Fetal MRI
Fetal brain MRI is an essential diagnostic tool to inform parents about the prognosis of abnormalities detected on routine ultrasound.
- Conditions
- Cortical Development Malformation, Multiparametric Magnetic Resonnance Imaging, Brain Cortical Thickness, Prenatal Diagnosis
- Trial name
- MULTINORMFET (NCT06081036)
- Testing
- Questionnaire
- Where
- France
- Volunteers
- 1,423 people, healthy volunteers welcome
- Sponsor
- Assistance Publique Hopitaux De Marseille
Lennox Gastaut Syndrome, Dravet Syndrome
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- NCT05044819
- Testing
- Cannabidiol
- Where
- 26 sites in United States
- Volunteers
- 154 people
- Sponsor
- Jazz Pharmaceuticals
Facial Angiofibroma, Tuberous Sclerosis
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex
The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC).
- Trial name
- NCT03826628
- Testing
- rapamycin
- Where
- 17 sites in United States, Australia and 7 more
- Volunteers
- 107 people
- Sponsor
- Dermatology Specialties Limited Partnership
Tuberous Sclerosis, Autism Disorder
Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
The purpose of this study is to characterize the developmental phenotype of ASD and ID and to identify biomarkers using advanced MRI methodology and electrophysiological biomarkers of synaptic function and connectivity predictive…
- Conditions
- Tuberous Sclerosis, Autism Disorder, Intellectual Disability
- Trial name
- NCT02461459
- Where
- 6 sites in United States
- Volunteers
- 205 people, healthy volunteers welcome
- Sponsor
- Boston Children's Hospital
Tuberous Sclerosis Complex, Focal Cortical Dysplasia
Astroscape: A Study of Radiprodil on Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms in Patients With TSC or FCD Type II
Study RAD-GRIN-201 is a phase 1B/2A trial to assess safety, tolerability, pharmacokinetics (PK), and potential efficacy of radiprodil in participants with Tuberous Sclerosis Complex (TSC) or Focal Cortical Dysplasia (FCD) type…
- Trial name
- NCT06392009
- Testing
- Radiprodil
- Where
- 18 sites in Australia, Belgium and 6 more
- Volunteers
- 30 people
- Sponsor
- GRIN Therapeutics, Inc.
Microcephaly, Mental Retardation
Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
This prospective cohort study will determine the natural history of fetal exposure to Zika virus (ZIKV) and its effects on the fetus and newborn with emphasis on neurodevelopment outcome.
- Trial name
- ZENI (NCT02943304)
- Testing
- Symptomatic pregnant women with positive RT-PCR ZIKV in serum or urine, or a positive serologic test specific for ZIKV
- Where
- Colombia
- Volunteers
- 284 people, healthy volunteers welcome
- Sponsor
- Universidad Industrial de Santander
Developmental and Epileptic Encephalopathy, Dravet Syndrome
Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
The objective of this study is to assess the long-term safety, tolerability, and efficacy of adjunctive therapy of LP352 in subjects with developmental and epileptic encephalopathies who completed participation in Study LP352-201.
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- NCT05626634
- Testing
- LP352, bexicaserin
- Where
- 28 sites in United States, Australia
- Volunteers
- 41 people
- Sponsor
- Longboard Pharmaceuticals
Tuberous Sclerosis Complex, Seizures
A Randomized Controlled Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)
This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The blinded phase only will be described in this record. Participants will receive 1 of 2 doses of GWP42003-P or matching placebo.
- Trial name
- NCT02544763
- Testing
- GWP42003-P
- Where
- 44 sites in United States, Australia and 4 more
- Volunteers
- 224 people
- Sponsor
- Jazz Pharmaceuticals
TSC
TSC Remote Assessment and Intervention
The investigators propose a study to adapt an evidence-based caregiver training program to improve access in order to better serve the TSC community.
- Trial name
- TRAIN (NCT04698538)
- Testing
- JASPER
- Where
- United States
- Volunteers
- 54 people
- Sponsor
- University of California, Los Angeles