Clinical trials: Sturge-Weber Syndrome, open to volunteers
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, 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
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.
Haemorrhagic Hereditary Telangiectasia
Institutional Registry of Haemorrhagic Hereditary Telangiectasia
The purpose of this study is to create an institutional and population-based registry of Haemorrhagic Hereditary Telangiectasia with a prospective survey based on epidemiological data, risk factors, diagnosis, prognosis…
- Trial name
- NCT01761981
- Where
- Argentina
- Volunteers
- 590 people
- Sponsor
- Hospital Italiano de Buenos Aires
Sturge - Weber Syndrome (SWS)
Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome
The goal of this observational study is to learn about the neuropsychological profile of Sturge-Weber Syndrome (SWS) in children and adults with this rare neurocutaneous condition.
- Trial name
- NPS-SWS (NCT07655492)
- Where
- Italy
- Volunteers
- 40 people
- Sponsor
- University of Roma La Sapienza