Clinical trials: Tuberous Sclerosis
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
Tuberous Sclerosis Complex, Aspirin
Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex
There had been much evidence in aspirin controlling tumorous conditions conducted by basic researches, especially through mammilian target of rapamycin (mTOR) pathway.
- Conditions
- Tuberous Sclerosis Complex, Aspirin, Epilepsy, Cognitive Decline
- Trial name
- NCT03356769
- Testing
- Aspirin, AED
- Where
- China
- Volunteers
- 98 people
- Sponsor
- Peking Union Medical College Hospital
Angiofibroma of Face, Tuberous Sclerosis
Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex
The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric…
- Trial name
- NCT03363763
- Testing
- Sirolimus 0.2%, Sirolimus 0.4%
- Where
- 8 sites in United States, China
- Volunteers
- 24 people
- Sponsor
- Aucta Pharmaceuticals, Inc
Tuberous Sclerosis Complex
Early Biomarkers of Autism in Infants With Tuberous Sclerosis Complex (TSC)
The investigators are enrolling 3-12 month old infants with a diagnosis of tuberous sclerosis complex (TSC) for a new study on early markers of autism.
- Trial name
- NCT01780441
- Where
- 5 sites in United States
- Volunteers
- 166 people
- Sponsor
- Boston Children's Hospital
Tuberous Sclerosis Complex
Acceptance and Commitment Therapy in Tuberous Sclerosis Complex
The study will assess the acceptability and feasibility of a randomised controlled trial of 6-12 sessions of remotely-delivered Acceptance and Commitment Therapy (ACT) versus waitlist control.
- Trial name
- ACT in TSC (NCT05867576)
- Testing
- Acceptance and Commitment Therapy (ACT)
- Where
- United Kingdom
- Volunteers
- 15 people
- Sponsor
- University Hospitals Bristol and Weston NHS Foundation Trust
Autism, Tuberous Sclerosis
Studies of Autistic Patients: Gene Networks and Clinical Subtypes
Background: Researchers who are studying autism spectrum disorders are interested in developing a collection of research samples from both children with autism and healthy individuals, some of whom may be related to the children…
- Trial name
- NCT01092208
- Where
- United States
- Volunteers
- 11 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Developmental and Epileptic Encephalopathy, Dravet Syndrome
Open-label, Long-term Safety Study of LP352 in Subjects With Developmental and Epileptic Encephalopathy
The objective of this study is to assess the long-term safety, tolerability, and efficacy of adjunctive therapy of LP352 in subjects with developmental and epileptic encephalopathies who completed participation in Study LP352-201.
- Conditions
- Developmental and Epileptic Encephalopathy, Dravet Syndrome, Lennox-Gastaut Syndrome
- Trial name
- NCT05626634
- Testing
- LP352, bexicaserin
- Where
- 28 sites in United States, Australia
- Volunteers
- 41 people
- Sponsor
- Longboard Pharmaceuticals
Tuberous Sclerosis Complex, Epilepsy
The Effectiveness and Safety of Vagus Nerve Stimulation for TRE
Prospective cohort studies to identify clinical epilepsy control, cognitive changes, and safety of VNS in patients with tuberous sclerosis complex-related epilepsy.
- Trial name
- NCT04198207
- Where
- China
- Volunteers
- 70 people
- Sponsor
- Beijing Children's Hospital
Tuberous Sclerosis, STXBP1 Encephalopathy With Epilepsy
Gait in Rare Diseases
The aim of this pilot study is to explore whether the knowledge and experience gained during the T-GaiD project (Treatment of Gait Disorders in Dravet Syndrome - NCT03857451) can be transferred to other populations with similar…
- Trial name
- GAGA (NCT05161494)
- Where
- Belgium
- Volunteers
- 41 people
- Sponsor
- Universiteit Antwerpen
Angiofibromas, Tuberous Sclerosis
Topical Rapamycin to Erase Angiofibromas in TSC
The study is a multi-center prospective, randomized, double-blind, placebo-controlled evaluation of the safety and efficacy of a topically applied formulation of rapamycin to cutaneous angiofibromas in subjects with Tuberous…
- Trial name
- Treatment (NCT01526356)
- Testing
- Rapamycin
- Where
- 10 sites in United States, Australia
- Volunteers
- 179 people
- Sponsor
- The University of Texas Health Science Center, Houston
Lennox Gastaut Syndrome, Dravet Syndrome
Assessment of Potential for Chronic Liver Injury in Participants Treated With Epidiolex (Cannabidiol) Oral Solution
This study will monitor for potential chronic liver injury and liver fibrosis, in participants treated with cannabidiol oral solution.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- NCT05044819
- Testing
- Cannabidiol
- Where
- 26 sites in United States
- Volunteers
- 154 people
- Sponsor
- Jazz Pharmaceuticals
Tuberous Sclerosis Complex
Early Behavioral Intervention to Improve Social Communication Function in Infants With Tuberous Sclerosis Complex
The investigators are running an intervention study for young children with Tuberous Sclerosis Complex (TSC). The study will include free play-based behavioral intervention that may improve social and communication skills in…
- Trial name
- NCT02687633
- Testing
- JASPER
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of California, Los Angeles
Tuberous Sclerosis Complex (TSC)
Observational, Retrospective, Multicenter, Nonprofit Study on the Prevalence of Renal Involvement in Pediatric Patients With Tuberous Sclerosis
Observational, retrospective, multicenter, nonprofit study on the prevalence of renal involvement in pediatric patients with tuberous sclerosis.
- Trial name
- NCT06764602
- Where
- Italy
- Volunteers
- 80 people
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
Chronic Kidney Disease, Proteinuria
A Smart Phone Application to Improve Adoption of the 2024 Kidney Disease Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) Guidelines
The goal of this study is to establish whether use of a digital intervention can improve adherence and alignment with the Kidney Disease: Improving Global Outcomes (KDIGO) Chronic Kidney Disease (CKD) 2024 Guidelines.
- Conditions
- Chronic Kidney Disease, Proteinuria, Blood Pressure Control, Congenital Anomalies of the Kidneys and Urinary Tract
- Trial name
- NCT07561957
- Testing
- Use of an electronic digital Application
- Where
- 2 sites in Ireland
- Volunteers
- 80 people
- Sponsor
- St. James's Hospital, Ireland
Epilepsy
ESIS in Pediatric DRE
The main reason for this research study is to gain information about how the brain makes seizures by causing seizures using very small amounts of current, or electrical stimulation.
- Trial name
- NCT05469373
- Where
- United States
- Volunteers
- 86 people
- Sponsor
- Sarah Katie Ihnen
Tuberous Sclerosis Complex
Open-label Study of Adjunctive GNX Treatment in Children and Adults With TSC-related Epilepsy
This is a Phase 3, global, open-label extension (OLE) study of adjunctive GNX treatment in children and adults with TSC who previously participated in either Study 1042-TSC-3001 or Study 1042-TSC-2001
- Trial name
- NCT05604170
- Testing
- Ganaxolone
- Where
- 54 sites in United States, Australia and 8 more
- Volunteers
- 117 people
- Sponsor
- Marinus Pharmaceuticals
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Tuberous Sclerosis Complex
Predicting Epileptogenic Tubers in Patients with Tuberous Sclerosis Complex
Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging because ETs lack distinct pathological or genetic markers that differentiate them from other…
- Trial name
- NCT06789419
- Volunteers
- 112 people
- Sponsor
- Beijing Children's Hospital
TSC, Behavioral Symptoms
Regulating Together in Tuberous Sclerosis Complex
The purpose of this study is to use a program called Regulating Together (RT), a remote, non-pharmacologic intervention to treat symptoms of emotion dysregulation in children and adolescents with Tuberous Sclerosis Complex (TSC)…
- Trial name
- RT (NCT06105736)
- Testing
- Behavioral Intervention in a small group platform
- Where
- 2 sites in United States
- Volunteers
- 105 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Tuberous Sclerosis Complex, TSC Related Cognitive Disability
Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is a genetic disease that leads to mental retardation in over 50% of patients, and to learning problems, behavioral problems, autism and epilepsy in up to 90% of patients.
- Conditions
- Tuberous Sclerosis Complex, TSC Related Cognitive Disability, TSC Related Autism, TSC Related Learning Problems
- Trial name
- RAPIT (NCT01730209)
- Testing
- Everolimus
- Where
- Netherlands
- Volunteers
- 60 people
- Sponsor
- Erasmus Medical Center