Clinical trials: Cortical Dysplasia
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Pulmonary Embolism Acute, Pulmonary Embolism Acute Massive
Cohort Study on Treatment Comes of Catheter-based Therapy in Patients With Acute Pulmonary Embolism in Hong Kong
This retrospective cohort study (Hong Kong PECT Registry) compares treatment outcomes between different percutaneous catheter-based therapies in patients with acute pulmonary embolism (PE).
- Conditions
- Pulmonary Embolism Acute, Pulmonary Embolism Acute Massive, Pulmonary Embolism Subacute Massive
- Trial name
- HK-PECT (NCT07029841)
- Testing
- catheter-based therapy
- Where
- Hong Kong
- Volunteers
- 1,000 people
- Sponsor
- Chinese University of Hong Kong
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
CASPR2-Antibody, Encephalitis Autoimmune
CASPR2 Encephalitis Initial Symptoms
Auto-immune encephalitides involve auto-antibodies targeting the central nervous system, and particularly the synapse and its structure, such as protein CASPR2.
- Conditions
- CASPR2-Antibody, Encephalitis Autoimmune, Paraneoplastic Syndromes
- Trial name
- iniCASPR2 (NCT04653571)
- Testing
- CASPR2 encephalitis
- Where
- France
- Volunteers
- 48 people
- Sponsor
- Hospices Civils de Lyon
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
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
Quality of Life, Ichthyosis
Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling
The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of…
- Conditions
- Quality of Life, Ichthyosis, Palmoplantar Keratoses, Epidermolysis Bullosa
- Trial name
- NCT06330350
- Testing
- Qualitative interview
- Where
- Netherlands
- Volunteers
- 25 people
- Sponsor
- Maastricht University Medical Center
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
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.
Hypomelanotic Macules, Facial Angiofibroma
Biomarkers for Tuberous Sclerosis Complex (BioTuScCom)
International, multicenter, observational, longitudinal study to identify biomarker/s for Tuberous Sclerosis Complex and to explore the clinical robustness, specificity, and long´-term variability of these biomarker/s
- Conditions
- Hypomelanotic Macules, Facial Angiofibroma, Shagreen Patches, Ungual Fibromas
- Trial name
- TuScCom (NCT02654340)
- Where
- 8 sites in Albania, Egypt and 6 more
- Volunteers
- 20 people
- Sponsor
- CENTOGENE GmbH Rostock
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
Autoimmune Encephalitis
Impact of Confirmed Autoimmune Encephalitis on Brain Glucose Metabolism
Prospective cohort study evaluating FDG PET in 56 patients with confirmed autoimmune encephalitis - based on 2016 Graus criteria, and 2021 paraneoplastic neurological syndromes criteria - at the acute phase, before…
- Trial name
- ENCEPHATAIP (NCT06079294)
- Testing
- FDG PET
- Where
- France
- Volunteers
- 56 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris