Clinical trials: Sturge-Weber Syndrome
Sturge Weber Syndrome, Port-wine Mark
Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol
Primary Objective: To assess the possible utility of topical timolol in the management of port-wine mark (PWM) in Sturge-Weber syndrome in children.
- Trial name
- NCT01533376
- Testing
- Timolol, Preservative free artificial tear gel.
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Wills Eye
Sturge-Weber Syndrome
Biomarker Development in Sturge-Weber Syndrome
This is a study of 40 individuals with Sturge-Weber Syndrome (SWS) brain and/or eye involvement. It will examine the test-retest reliability of the following clinical tests: 1. Quantitative EEG 2. Transcranial Doppler 3.
- Trial name
- Pilot (NCT01345305)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Lymphatic Malformation, Generalized Lymphatic Anomaly (GLA)
Lymphatic Anomalies Registry for the Assessment of Outcome Data
Lymphatic anomalies are a rare subset of vascular anomalies that are poorly understood. the understanding of the natural history, long-term outcomes, risk factors for morbidity and mortality, and the relative benefit of medical…
- Conditions
- Lymphatic Malformation, Generalized Lymphatic Anomaly (GLA), Central Conducting Lymphatic Anomaly, CLOVES Syndrome
- Trial name
- NCT02399527
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Boston Children's Hospital
Vascular Anomaly, Generalized Lymphatic Anomaly
Identification of Biomarkers for Patients with Vascular Anomalies
The study will use blood (serum and plasma) and tissue obtained from participants undergoing prescribed surgical resection of vascular anomalies of interest proposed in this study.
- Conditions
- Vascular Anomaly, Generalized Lymphatic Anomaly, Kaposiform Hemangioendothelioma, Kaposiform Lymphangiomatosis
- Trial name
- NCT03001180
- Where
- 2 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Sturge-Weber Syndrome
Novel Cognitive Treatment Targets for Epidiolex in Sturge- Weber Syndrome
The purpose of this study is to better understand the utility of cannabidiol (CBD/ Epidiolex) for improving the treatment of cognitive impairments in Sturge-Weber syndrome (SWS).
- Trial name
- NCT04447846
- Testing
- Cannabidiol
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Anne Comi, MD
Sturge- Weber Syndrome
Efficacy and Safety Study of Topical Rapamycin Associated With Pulsed Dye Laser in Patients With Sturge-Weber Syndrome
Sturge-Weber syndrome (SWS) is a rare congenital neuro-cutaneous disorder considered as a rare or orphan disease. SWS is characterized by a capillary vascular malformation (CM) localized on the skin of the face, eyes and central…
- Trial name
- RSW (NCT02080624)
- Testing
- Drug: Topical Rapamycin
- Where
- Spain
- Volunteers
- 23 people
- Sponsor
- Clinica Universidad de Navarra, Universidad de Navarra
Sturge-Weber Syndrome
Longitudinal Neuroimaging in Sturge-Weber Syndrome
In this project the accuracy of a novel, rapid magnetic resonance imaging (MRI) approach to detect brain abnormalities in patients with Sturge-Weber syndrome (SWS) will be tested; this new imaging approach, that can create…
- Trial name
- NCT04517565
- Testing
- Brain magnetic resonance imaging, Neuro-psychology testing
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Wayne State University
Sturge-Weber Syndrome
Longitudinal Studies to Identify Biomarkers for Sturge-Weber Syndrome
Individuals with Sturge-Weber Syndrome (SWS) sometimes have brain involvement which can result in seizures, stroke-like episodes and neurologic deficits.
- Trial name
- NCT04717427
- Where
- 8 sites in United States
- Volunteers
- 161 people, healthy volunteers welcome
- Sponsor
- University of Illinois Chicago
Sturge-Weber Syndrome, Neurocutaneous Syndromes
Neurocutaneous Syndromes in Children: Prevalence and Clinical Characteristics
This cross-sectional study aims to determine the prevalence, clinical characteristics, and management patterns of neurocutaneous syndromes among children attending the Pediatric Neurology Unit at Assiut University.
- Conditions
- Sturge-Weber Syndrome, Neurocutaneous Syndromes, Neurofibromatoses, Tuberous Sclerosis
- Trial name
- NCT07843823
- Volunteers
- 100 people
- Sponsor
- Assiut University
Venous Malformations, Lymphatic Malformations
A Study to Investigate Efficacy and Safety of KP-001 Compared With Placebo in Patients Aged ≥2 Years With Common VM, Common LM, or KTS/CLOVES Syndrome
This is a phase 3, double-blind, randomized, placebo-controlled, parallel group, adaptive, multicenter study planned to be conducted at multiple sites in North America, Canada, Taiwan and South Korea.
- Conditions
- Venous Malformations, Lymphatic Malformations, Klippel-Trenaunay Syndrome, CLOVES Syndrome
- Trial name
- S-KY (NCT07285005)
- Testing
- KP-001
- Where
- 5 sites in United States, South Korea and 1 more
- Volunteers
- 150 people
- Sponsor
- Kaken Pharmaceutical
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
Vascular Diseases, Vascular Malformation
A New Approach in Laser Surgery Using the Regenerative Solution in Children Diagnosed With Vascular Pathology
Laser treatment (LT) is the first-line treatment for Vascular Pathology. However even when LT is based on the selective photothermolysis it causes the first-degree burns.
- Conditions
- Vascular Diseases, Vascular Malformation, Capillary Malformation-Arteriovenous Malformation, Port-Wine Stain
- Trial name
- DOUBLE-SKIN (NCT04999618)
- Testing
- Haemoblock
- Where
- Russia
- Volunteers
- 200 people
- Sponsor
- Center for Vascular Pathology, Moscow
Sturge-Weber Syndrome
Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome
The purpose of this study is to determine the tolerability and optimal dose of cannabidiol (CBD) as an simultaneous treatment in children and young adults with Sturge-Weber syndrome (SWS) and drug resistant epilepsy.
- Trial name
- NCT02332655
- Testing
- Cannabidiol
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Anne Comi, MD
Sturge-Weber Syndrome
Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
This study has three aims that hope to expand the knowledge on the cause of Sturge-Weber Syndrome (SWS) and improve clinical care of Sturge-Weber Syndrome patients.
- Trial name
- NCT01425944
- Where
- 7 sites in United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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
Epilepsy, Sturge Weber Syndrome
Use of the Atkins Diet for Children With Sturge Weber Syndrome
This research is being done to find out if the Atkins Diet can be used safely and effectively to reduce seizures in children who have Sturge Weber syndrome.
- Trial name
- NCT00639730
- Testing
- modified Atkins diet
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Johns Hopkins University
Sturge Weber Syndrome
Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)
Sturge Weber Syndrome (SWS) is a rare disease that affects the patient's brain and causes benign (non-cancerous) tumors to grow in the brain. One of the symptoms of SWS is epilepsy. People with epilepsy have seizures.
- Trial name
- NCT01997255
- Testing
- Everolimus
- Where
- United States
- Sponsor
- Baylor College of Medicine
Sturge - Weber Syndrome (SWS)
Epidiolex Trial for Presymptomatic Treatment of Sturge-Weber Syndrome
Patients with Sturge-Weber syndrome (SWS) are frequently affected by seizures, and seizures are associated with poorer neurological outcomes. To date there is no established means of predicting or preventing seizure onset.
- Trial name
- Epi-Pre (NCT07778810)
- Testing
- Epidiolex 100 mg/mL Oral Solution
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Johns Hopkins University
Drug-resistant Focal Epilepsies in Pediatric Population
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2…
- Trial name
- GENEPHY (NCT02890641)
- Testing
- Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
- Where
- France
- Volunteers
- 450 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study)
This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, zovegalisib (RLY-2608), in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations…
- Conditions
- PIK3CA-Related Overgrowth Spectrum (PROS), Lymphatic Malformations, Vascular Malformations, PIK3CA Mutation
- Trial name
- NCT06789913
- Testing
- RLY-2608
- Where
- 40 sites in United States, Australia and 7 more
- Volunteers
- 277 people
- Sponsor
- Relay Therapeutics, Inc.