Clinical trials: Cortical Dysplasia
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
Epilepsy; Seizure, Neuromuscular Diseases
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family…
- Conditions
- Epilepsy; Seizure, Neuromuscular Diseases, Brain Malformation, Intellectual Disability
- Trial name
- NCGENES2 (NCT03548779)
- Testing
- Pre-visit prep, usual care + exome seq
- Where
- 3 sites in United States
- Volunteers
- 548 people
- Sponsor
- University of North Carolina, Chapel Hill
Pulmonary Embolism, Venous Thrombosis
XENITH: Rivaroxaban for Pulmonary Embolism Managed With Catheter Directed Thrombolysis
The trial is an open-label, randomized, trial examining novel biomarkers of thrombosis in patients managed with rivaroxaban vs. standard care following treatment of pulmonary embolism (PE) with catheter-guided alteplase.
- Trial name
- XENITH (NCT02506985)
- Testing
- rivaroxaban, warfarin
- Volunteers
- 10 people
- Sponsor
- Susan Smyth
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
Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1)
Precision Medicine for Neurocutaneous Syndromes in Western China
The goal of this observational study (retrospective multicenter cohort study) is to learn if precision medicine approaches-including genetic testing, targeted drugs, and coordinated care from multiple specialists-can improve…
- Conditions
- Neurocutaneous Syndromes, Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome (SWS)
- Trial name
- NCT07327164
- Where
- China
- Volunteers
- 1,200 people
- Sponsor
- West China Hospital
Cortical Dysplasia
Evaluating Dietary Intervention Before surgicaL Treatment for Epilepsy
The investigators are undertaking the first European Randomised Controlled Trial (RCT) for epilepsy surgery in children with FCD type II, to prospectively evaluate the role of the KD prior to surgery in improving seizure outcome.
- Trial name
- EDIBLE (NCT02261753)
- Testing
- Classical ketogenic diet
- Where
- 15 sites in United States, Austria and 6 more
- Volunteers
- 3 people
- Sponsor
- University College, London
Epilepsy and Focal Cortical Dysplasia II
A Study Investigating the Anti-epileptic Efficacy of Afinitor (Everolimus) in Patients With Refractory Seizures Who Have Focal Cortical Dysplasia Type II (FCD II)
This is a prospective, randomized, double-blind, placebo-controlled cross over study designed to evaluate the efficacy and safety of everolimus (trough 5-15 ng/mL) given as adjunctive therapy in patients with focal cortical…
- Trial name
- NCT03198949
- Testing
- Afinitor (everolimus)
- Where
- South Korea
- Volunteers
- 23 people
- Sponsor
- Yonsei University
Epilepsy, Dravet Syndrome
A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies
The purpose of this study is to investigate the effect on the frequency of all seizures (convulsive and drop) in participants treated with TAK-935 compared to placebo.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- ELEKTRA (NCT03650452)
- Testing
- TAK-935
- Where
- 44 sites in United States, Australia and 6 more
- Volunteers
- 141 people
- Sponsor
- Takeda
Autism, Extra-axial Fluid
Transcranial Ultrasonography Using Linear 2D Imaging of the Brain
This study will use linear 2D ultrasound imaging to look at the brain of individuals diagnosed with autism and their siblings. This is called transcranial ultrasound (TUS).
- Trial name
- NCT01980186
- Testing
- TUS transcranial 2D ultrasound
- Where
- 2 sites in United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Brain Treatment Center
Cushing's Syndrome, Ectopic Corticotropin Syndrome
Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome
The study aim was to investigate the efficacy and safety of Osilodrostat in patients with Cushing's syndrome due to causes other than Cushing's disease in Japan.
- Conditions
- Cushing's Syndrome, Ectopic Corticotropin Syndrome, Adrenal Adenoma, Adrenal Carcinoma
- Trial name
- NCT02468193
- Testing
- Osilodrostat
- Where
- 4 sites in Japan
- Volunteers
- 9 people
- Sponsor
- Novartis Pharmaceuticals
Ureteropelvic Junction Obstruction
CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome
Cortical transit time on diuretic renogram as an early marker of significant obstruction in antenatally detected uretero-pelvic junction syndrome
- Trial name
- JUMP (NCT02812212)
- Testing
- ultrasonography, diuretic renography
- Where
- 5 sites in France
- Volunteers
- 75 people
- Sponsor
- Centre Hospitalier Universitaire de la Réunion
Epilepsy, Focal Cortical Dysplasia
Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery
Refractory epilepsy, meaning epilepsy that no longer responds to medication, is a common neurosurgical indication in children. In such cases, surgery is the treatment of choice.
- Conditions
- Epilepsy, Focal Cortical Dysplasia, Tuberous Sclerosis, Hemimegalencephaly
- Trial name
- NCT04344626
- Testing
- Intra-operative brain tonometry
- Where
- 2 sites in United States, Canada
- Sponsor
- University of California, Los Angeles
Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC)
Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME)
This is a multinational, open-label, single-arm trial of adjunctive SVG103 (paxalisib) treatment in adults with FCD-II, TSC, and HME.
- Conditions
- Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC), Hemimegalencephaly
- Trial name
- NCT07287202
- Testing
- SVG103
- Where
- 2 sites in Australia
- Volunteers
- 12 people
- Sponsor
- Sovargen
Ureteropelvic Junction Obstruction, Renal Functional Recovery
Renal SWE as a Predictor After Pediatric Pyeloplasty for UPJO
Ureteropelvic junction obstruction is an important cause of hydronephrosis and potentially reversible renal functional impairment in children.
- Trial name
- UPJO-SWE (NCT07624019)
- Where
- Egypt
- Volunteers
- 84 people
- Sponsor
- Beni-Suef University
Refractory Epilepsy, Focal Epilepsy
Study of Predictive Biomarkers for Rational Management of Drug-resistant Epilepsy Associated With Focal Cortical Dysplasia
Focal Cortical Dysplasias (FCDs) are neurodevelopmental disorders that represent a major cause of early onset drug-resistant epilepsies with cognitive and behavioral impairments, carrying a lifelong perspective of disability and…
- Conditions
- Refractory Epilepsy, Focal Epilepsy, Focal Cortical Dysplasia
- Trial name
- SPREAD (NCT03321240)
- Testing
- visual and quantitative SEEG signal analysis, Resective epilepsy surgery procedure
- Where
- 11 sites in France
- Volunteers
- 240 people
- Sponsor
- University Hospital, Strasbourg, France
Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia
Study to Evaluate the Pharmacokinetics and Safety Effects Following Coadministration of Carbamazepine or Itraconazole With Radiprodil in Healthy Adults
This is a Phase 1, open-label, 2-part study to evaluate the effect of multiple doses of oral carbamazepine or oral itraconazole on the plasma pharmacokinetic profile of radiprodil in healthy adult participants.
- Conditions
- Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia, Other Neurological Disorders
- Trial name
- NCT06965881
- Testing
- Radiprodil with Carbamazepine, Radiprodil with Itraconazole
- Where
- 2 sites in Australia
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- GRIN Therapeutics, Inc.
Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia
Phase 1, Open-label, Drug-drug Interaction Study to Assess Effect Between Radiprodil and the Co-administered Drugs.
This is a Phase 1, open-label, 3-period study to determine radiprodil's potential to act as a perpetrator of cytochrome P-450 (CYP) metabolic pathways and transporter pathways.
- Conditions
- Tuberous Sclerosis Complex (TSC), Focal Cortical Dysplasia, Other Neurological Disorders
- Trial name
- NCT06975605
- Testing
- Radiprodil + co-administered drugs
- Where
- Australia
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- GRIN Therapeutics, Inc.
Hippocampal Sclerosis, Dysembryoplastic Neuroepithelial Tumor
Exploration and Evaluation of Amygdalo-Hippocampectomy According to Prof. Coubes' Technique: An Anatomical, Clinical, and Educational Approach
The goal of this retrospective study is to evaluate the long-term clinical outcomes and complications associated with amygdalo-hippocampectomy using the surgical technique developed by Pr. Coubes (Montpellier, FRANCE).
- Conditions
- Hippocampal Sclerosis, Dysembryoplastic Neuroepithelial Tumor, Cortical Dysplasia, Ganglioglioma
- Trial name
- NCT06915649
- Testing
- Amygdalo-Hippocampectomy
- Where
- France
- Volunteers
- 3,504 people
- Sponsor
- University Hospital, Montpellier
Ichthyosis, Palmoplantar Keratoses
Reproductive Options in Inherited Skin Diseases
The goal of this observational study is to learn about the indications for prenatal diagnostics and preimplantation genetic testing for patients/couples affected by an inherited skin disease, and evaluate the clinical outcomes of…
- Conditions
- Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa, Ectodermal Dysplasia
- Trial name
- REPRO-ISD (NCT06330324)
- Where
- Netherlands
- Volunteers
- 650 people
- Sponsor
- Maastricht University Medical Center
Epilepsy, Focal Cortical Dysplasia
First-in-human Experience Using Novel Ultraflexible Low-impedance Electrode Arrays: an IDEAL Stage 1 Study
The goal of this first-in-human study is to evaluate a novel ultraflexible microelectrode in children undergoing neurosurgery to remove tissue that causes epilepsy (seizures) in focal cortical dysplasia (FCD) or long-term…
- Trial name
- NCT06116279
- Testing
- Insertion of electrode during planned neurosurgery for epilepsy
- Where
- United Kingdom
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust