Clinical trials: Klippel Trenaunay Syndrome
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.
Sturge - Weber Syndrome (SWS)
Incidence of Ocular Antibodies in Patients With Sturge - Weber Syndrome (SWS)
Sturge-Weber Syndrome (SWS) is a neurological disorder characterized at birth by seizures and a large port-wine stain birthmark on the forehead and upper eyelid of one side of the face.
- Trial name
- NCT00610402
- Testing
- blood sample tear drop sample
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- University of California, Irvine
PIK3CA-related Overgrowth Spectrum, CLOVES Syndrome
National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)
Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth.
- Conditions
- PIK3CA-related Overgrowth Spectrum, CLOVES Syndrome, Klippel Trenaunay Syndrome, Megalencephaly
- Trial name
- COSY (NCT05563831)
- Testing
- national registry
- Where
- France
- Volunteers
- 28 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Sturge-Weber Syndrome (SWS), Glaucoma
A Study to Determine the Safety and Tolerability of 2 Concentrations of QLS-101
Safety and tolerability study of 2 concentrations of QLS-101 for adult subjects with Sturge Weber Syndrome (SWS)-related glaucoma due to elevated episcleral venous pressure (EVP).
- Conditions
- Sturge-Weber Syndrome (SWS), Glaucoma, Glaucoma Congenital, Ocular Hypertension
- Trial name
- NCT04947124
- Testing
- QLS-101ophthalmic solution 1%, QLS-101ophthalmic solution 2%
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Qlaris Bio, Inc.
Sturge-Weber Syndrome, Glaucoma
Safety and Tolerability Study of QLS-101 in Adolescents With Sturge-Weber Syndrome (SWS)-Related Glaucoma Due to Elevated Episcleral Venous Pressure (EVP)
Open-label study of an investigational product (IP), QLS-101, with 28-day every morning (QAM) dosing to both eyes (OU) in adolescents with SWS who have clinical evidence of glaucoma and/or ocular hypertension (OHT) related to SWS…
- Conditions
- Sturge-Weber Syndrome, Glaucoma, Ocular Hypertension
- Trial name
- NCT05495269
- Testing
- QLS-101 ophthalmic solution, 2.0 %
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Qlaris Bio, Inc.
Sturge-Weber Syndrome
Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome
The purpose of this research study is to gain a preliminary understanding of the safety of sirolimus in Sturge-Weber syndrome (SWS) and determine best outcomes to be used to assess the utility of sirolimus for the treatment of…
- Trial name
- NCT03047980
- Testing
- Sirolimus
- Where
- 2 sites in United States
- Volunteers
- 10 people
- Sponsor
- Anne Comi, MD
Port Wine Stain, Klippel Trenaunay Syndrome
French National Cohort of Children With Port Wine Stain
Port Wine Stain on a limb can be either isolated or associated with complications (venous or orthopedic impairment, arteriovenous malformations), leading sometimes to complex syndromes (Klippel-Trenaunay syndrome,Parkes-Weber…
- Conditions
- Port Wine Stain, Klippel Trenaunay Syndrome, Parkes Weber Syndrome
- Trial name
- CONAPE (NCT01364857)
- Testing
- search for polymorphisms of RASA1 gene
- Where
- 17 sites in France
- Volunteers
- 150 people
- Sponsor
- University Hospital, Tours
Vascular Malformations, Vascular Anomaly
Vascular Anomaly Pathology and Genomics Biopsy Study
The purpose of this research is to gather information on the safety and effectiveness of core biopsy of vascular anomalies for clinical pathology and clinical genomics studies.
- Conditions
- Vascular Malformations, Vascular Anomaly, Hemangioma, Arteriovenous Malformations
- Trial name
- NCT04836884
- Testing
- Percutaneous Vascular Anomaly/Malformation Biopsy
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Mayo Clinic
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